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Home Blog Chronic Ailments Is Lupus Genetic? Unraveling the Mystery with Research-Based Insights

Is Lupus Genetic? Unraveling the Mystery with Research-Based Insights

By Dr. Ashish Bajaj +2 more

check_circle Medically reviewed by Dr. Ashish Bajaj

Last updated: Apr 18, 2024

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Table of Contents

Key Highlights:

Lupus is an autoimmune disease with both genetic and environmental factors playing a role
Over 60 genes have been associated with lupus, but no single gene or group of genes causes it
Certain ethnic groups are at higher risk due to genetic predispositions
Environmental triggers like infections, medications, hormonal factors, and ultraviolet light contribute to the development of lupus
Early detection and proper treatment can help control symptoms and improve quality of life for people with lupus

Introduction

Every year, lupus affects numerous individuals around the world. It’s an unending sickness where the immune system attacks the body’s own healthy tissues (autoimmune disease). This results in inflammation in different body systems including your joints, skin, kidneys, blood cells, brain, heart and lungs and an array of symptoms. Emphasizing the genetics of lupus aids diagnosis and treatment processes.

In this write-up, we delve into the fascinating world of lupus genetics. Intriguing aspects include the genetic risk factors and the role of ethnicity in lupus’ development. We’ll also discuss the disease’s symptoms, how to diagnose it, and common questions tied to this complex disorder.

I recently read a study which says that when cells undergo apoptosis (self-destruction) because they are damaged or no longer needed, they are not adequately eliminated from the body in lupus patients. According to research, these dead cells might produce chemicals that trigger an erroneous immune response, attacking bodily tissues and causing lupus symptoms and signs.
Dr. Rajeev Singh, BAMS

The Genetics of Lupus

While not purely hereditary, genetics play a massive part in relative lupus risks. Let’s investigate these factors further.

Genetic Factors Contributing to Lupus Risk

Several genetic elements come into play with respect to lupus risk. They incorporate inheritance patterns, certain genes, and instances known as monogenic lupus.

Inheritance patterns aren’t entirely clear, yet a family history of lupus does escalate one’s risk. Scientists have linked over 60 genes to lupus. These genes are mostly related to immune functions and inflammation. In rare Monogenic lupus cases, a single gene mutation might be the cause.

Lupus Risk Across Different Ethnicities

Lupus prevalence fluctuates across different ethnic groups. Understanding these variances could help shape preventative and treatment measures catered to these groups.

For instance, lupus is more prevalent in African, Asian, Latinx, Native American, Native Hawaiian, and Pacific Islander areas. Also, it is more common in women than men.

The Role of Genetic Research in Lupus

Advancements in genetic research on lupus have facilitated improved disease management. Recognition of lupus-associated genetic hallmarks aid in predicting susceptibility and guiding treatment plans.

Although the path of inheritance for lupus is mostly unknown, studies believe that they tend to run in families. Most people do not inherit lupus; instead, they may inherit a gene mutation that either raises or lowers the risk of the disorder. I suggest one should consult their doctor if they notice any symptoms indicating lupus.
Dr. Siddharth Gupta, MD

Promising Research into TLR7 Gene

One exciting area of research pertains to the TLR7 gene. Evidence suggests that the TLR7 gene plays an integral part in immune system activation and possibly in inducing lupus.

Environmental Factors and Lupus

Let’s remember that besides genetics, our surroundings also greatly affect lupus risks.

Common Environmental Triggers for Lupus

Many environmental factors can trigger lupus or amplify lupus activity.

Infections can provoke an autoimmune response, leading to lupus or worsening it. Certain medicines, like those for blood pressure, seizures, and antibiotics, can stir drug-induced lupus. Hormonal factors, especially estrogen levels, play a role in lupus. Lastly, exposure to sunlight or UV light, such as from tanning beds, can trigger lupus or aggravate its symptoms.

The Role of Environment in Lupus Development

Understanding the complex interplay between genetic and environmental factors is key for personalized prevention and management plans for lupus.

Researchers are studying potential links between specific environmental factors and the risk of lupus, like air pollution, diet, and chronic stress.

Risk factors

Factors that may increase your risk of lupus include:

Your sex: Lupus is more common in women.
Age: Although lupus affects people of all ages, it’s most often diagnosed between the ages of 15 and 45.
Race: Lupus is more common in African Americans, Hispanics and Asian Americans.

Complications

Inflammation caused by lupus can affect many areas of your body, including your:
Kidneys. Lupus can cause serious kidney damage, and kidney failure is one of the leading causes of death among people with lupus.
Brain and central nervous system. If your brain is affected by lupus, you may experience headaches, dizziness, behavior changes, vision problems, and even strokes or seizures. Many people with lupus experience memory problems and may have difficulty expressing their thoughts.
Blood and blood vessels. Lupus may lead to blood problems, including a reduced number of healthy red blood cells (anemia) and an increased risk of bleeding or blood clotting. It can also cause inflammation of the blood vessels.
Lungs. Having lupus increases your chances of developing an inflammation of the chest cavity lining, which can make breathing painful. Bleeding into lungs and pneumonia also are possible.
Heart. Lupus can cause inflammation of your heart muscle, your arteries or heart membrane. The risk of cardiovascular disease and heart attacks increases greatly as well.

Symptoms and Diagnosis of Lupus

Lupus, with its myriad symptoms, often proves difficult to diagnose. Early detection and accurate diagnosis are critical for effective disease management.

Common Symptoms of Lupus

At the point when a patient is suspected of having Lupus, healthcare providers look for common signs.

No two cases of lupus are exactly alike. Signs and symptoms may come on suddenly or develop slowly, may be mild or severe, and may be temporary or permanent. Most people with lupus have mild disease characterized by episodes — called flares — when signs and symptoms get worse for a while, then improve or even disappear completely for a time.

The signs and symptoms of lupus that you experience will depend on which body systems are affected by the disease. The most common signs and symptoms include:

Fatigue
Fever
Joint pain, stiffness and swelling
Butterfly-shaped rash on the face that covers the cheeks and bridge of the nose or rashes elsewhere on the body
Skin lesions that appear or worsen with sun exposure
Fingers and toes that turn white or blue when exposed to cold or during stressful periods
Shortness of breath
Chest pain
Dry eyes
Headaches, confusion and memory loss

Lupus facial rash

A typical sign of lupus is a red, butterfly-shaped rash over your cheeks and nose, often following exposure to sunlight.

Misdiagnosis, Challenges, and Importance of Early Detection

Due to symptoms resembling other diseases, diagnosing lupus can be challenging. Genetic studies can make the diagnostic process more precise and faster. The most distinctive sign of lupus — a facial rash that resembles the wings of a butterfly unfolding across both cheeks — occurs in many but not all cases of lupus. While there’s no cure for lupus, treatments can help control symptoms.

No one test can diagnose lupus. The combination of blood and urine tests, signs and symptoms, and physical examination findings leads to the diagnosis.

When to Contact a Doctor

If you think you might have lupus, it’s crucial to seek medical attention early. Rheumatologists are doctors who specialize in treatment of Lupus. Depending upon the involvement of other organs a rheumatologist may refer you to other specialists like a dermatologist, ophthalmologist, nephrologist, cardiologist, neurologist etc.

Once diagnosed with Lupus, it is important to adhere to the treatment plan and lifestyle changes as advised. Do not miss your follow up appointments.

Treatment:

Treatment for lupus depends on your signs and symptoms. Determining whether you should be treated and what medications to use requires a careful discussion of the benefits and risks with your rheumatologist.

The medications most commonly used to control lupus include:

Nonsteroidal anti-inflammatory drugs (NSAIDs)
Antimalarial drugs
Corticosteroids
Immunosuppressants
Biologics

Conclusion

To sum it up, lupus is a complex autoimmune disease with roots in genetics and influences from the environment. Delving into the subtle dance between genetic risk factors and environmental contributors is critical for early detection, correct diagnosis, and effective treatment. Continued research into lupus genetics holds promise for new treatment targets and personalized treatment plans, thus improving patient outcomes.

Raising awareness and supporting lupus research is fundamental for the benefit of patients, their families, and the wider medical community. Unified efforts can help us envision a future where lupus is significantly more manageable and less devastating for all those affected.

FAQ (Frequently Asked Questions)

Does lupus run in families?

Yes, about 20% of people with lupus have a parent or sibling with the disease, but how it’s inherited isn’t completely understood.

What are the three most common triggers of lupus?

Infections, certain drugs, and ultraviolet light exposure are the top three lupus triggers.

Is lupus hereditary?

Lupus isn’t only hereditary. Genetics can increase the risk of getting lupus, but environmental factors also play a role in its development.

What factors can trigger lupus to start?

Several factors, including infections, certain drugs, hormonal changes, and UV light exposure can trigger lupus, especially in genetically predisposed individuals.

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National Center for Biotechnology Information (NCBI). Genetic Variants of IκB Kinase β ( IKBKB ) and Polymerase β ( POLB ) Were Not Associated with Systemic Lupus Erythematosus Risk in a Chinese Han Population [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4500405
National Center for Biotechnology Information (NCBI). Association of the IKZF1 5′ UTR variant rs1456896 with lupus nephritis in a northern Han Chinese population [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=27684961
National Center for Biotechnology Information (NCBI). A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=29912393
National Center for Biotechnology Information (NCBI). A plausibly causal functional lupus-associated risk variant in the STAT1–STAT4 locus [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005081
National Center for Biotechnology Information (NCBI). Anti-TNF-alpha therapies in systemic lupus erythematosus [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=20625488
National Center for Biotechnology Information (NCBI). Anti-TNF- α Therapies in Systemic Lupus Erythematosus [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2896679
National Center for Biotechnology Information (NCBI). Epstein-Barr virus oncoprotein super-enhancers control B cell growth [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=25639793
National Center for Biotechnology Information (NCBI). Epstein-Barr Virus oncoprotein super-enhancers control B cell growth [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4539236
National Center for Biotechnology Information (NCBI). EBV-infected B cells in infectious mononucleosis: viral strategies for spreading in the B cell compartment and establishing latency [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=11070167
National Center for Biotechnology Information (NCBI). The expression pattern of Epstein-Barr virus latent genes in vivo is dependent upon the differentiation stage of the infected B cell [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=11070168
National Center for Biotechnology Information (NCBI). The B cell transcription program mediates hypomethylation and overexpression of key genes in Epstein-Barr virus-associated proliferative conversion [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=23320978
National Center for Biotechnology Information (NCBI). The B cell transcription program mediates hypomethylation and overexpression of key genes in Epstein-Barr virus-associated proliferative conversion [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663113
National Center for Biotechnology Information (NCBI). Large-scale hypomethylated blocks associated with Epstein-Barr virus-induced B-cell immortalization [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=24068705
National Center for Biotechnology Information (NCBI). Large-scale hypomethylated blocks associated with Epstein-Barr virus–induced B-cell immortalization [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3912409
National Center for Biotechnology Information (NCBI). Epstein-Barr virus reprograms human B lymphocytes immediately in the prelatent phase of infection [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=31341086
National Center for Biotechnology Information (NCBI). Epstein–Barr virus reprograms human B lymphocytes immediately in the prelatent phase of infection [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6690029
National Center for Biotechnology Information (NCBI). The Genetics of Transcription Factor DNA Binding Variation [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=27471964
National Center for Biotechnology Information (NCBI). Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=24136355
National Center for Biotechnology Information (NCBI). Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502466
National Center for Biotechnology Information (NCBI). Effects of sequence variation on differential allelic transcription factor occupancy and gene expression [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=22300769
National Center for Biotechnology Information (NCBI). Effects of sequence variation on differential allelic transcription factor occupancy and gene expression [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3337432
National Center for Biotechnology Information (NCBI). Lupus Risk Variant Increases pSTAT1 Binding and Decreases ETS1 Expression [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=25865496
National Center for Biotechnology Information (NCBI). Lupus Risk Variant Increases pSTAT1 Binding and Decreases ETS1 Expression [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570281
National Center for Biotechnology Information (NCBI). Low copy numbers of complement C4 and homozygous deficiency of C4A may predispose to severe disease and earlier disease onset in patients with systemic lupus erythematosus [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=29050534
National Center for Biotechnology Information (NCBI). IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=29930244
National Center for Biotechnology Information (NCBI). IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6013502
National Center for Biotechnology Information (NCBI). Unique Allelic eQTL Clusters in Human MHC Haplotypes [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=28600441
National Center for Biotechnology Information (NCBI). Unique Allelic eQTL Clusters in Human MHC Haplotypes [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5555465
National Center for Biotechnology Information (NCBI). Expression estimation and eQTL mapping for HLA genes with a personalized pipeline [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=31009447
National Center for Biotechnology Information (NCBI). Expression estimation and eQTL mapping for HLA genes with a personalized pipeline [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497317
National Center for Biotechnology Information (NCBI). Association study and mutational screening of SYNGR1 as a candidate susceptibility gene for schizophrenia [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=19641478
National Center for Biotechnology Information (NCBI). High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=24532676
National Center for Biotechnology Information (NCBI). Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=22961000
National Center for Biotechnology Information (NCBI). Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3459817
National Center for Biotechnology Information (NCBI). BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=19919682
National Center for Biotechnology Information (NCBI). BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3091323
National Center for Biotechnology Information (NCBI). Genome-wide association study identifies three novel susceptibility loci for systemic lupus erythematosus in Han Chinese [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=29494758
National Center for Biotechnology Information (NCBI). Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=27399966
National Center for Biotechnology Information (NCBI). Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4966635
National Center for Biotechnology Information (NCBI). Genome-Wide Association Study in an Amerindian Ancestry Population Reveals Novel Systemic Lupus Erythematosus Risk Loci and the Role of European Admixture [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=26606652
National Center for Biotechnology Information (NCBI). GWAS in an Amerindian ancestry population reveals novel systemic lupus erythematosus risk loci and the role of European admixture [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4829354
National Center for Biotechnology Information (NCBI). Genome-wide search followed by replication reveals genetic interaction of CD80 and ALOX5AP associated with systemic lupus erythematosus in Asian populations [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=25862617
National Center for Biotechnology Information (NCBI). Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=25827949
National Center for Biotechnology Information (NCBI). Identification of susceptibility genes for systemic lupus erythematosus with a genome-wide gene-based association study [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=24720365
National Center for Biotechnology Information (NCBI). A genome-wide association study identified AFF1 as a susceptibility locus for systemic lupus eyrthematosus in Japanese [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=22291604
National Center for Biotechnology Information (NCBI). A Genome-Wide Association Study Identified AFF1 as a Susceptibility Locus for Systemic Lupus Eyrthematosus in Japanese [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3266877
National Center for Biotechnology Information (NCBI). Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=20169177
National Center for Biotechnology Information (NCBI). Genome-Wide Association Study in Asian Populations Identifies Variants in ETS1 and WDFY4 Associated with Systemic Lupus Erythematosus [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2820522
National Center for Biotechnology Information (NCBI). A genome-wide study of lupus: preliminary analysis and data release [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=17911428
National Center for Biotechnology Information (NCBI). Transancestral mapping and genetic load in systemic lupus erythematosus [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=28714469
National Center for Biotechnology Information (NCBI). Transancestral mapping and genetic load in systemic lupus erythematosus [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5520018
National Center for Biotechnology Information (NCBI). Second-generation PLINK: rising to the challenge of larger and richer datasets [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=25722852
National Center for Biotechnology Information (NCBI). Second-generation PLINK: rising to the challenge of larger and richer datasets [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4342193
National Center for Biotechnology Information (NCBI). dbSNP: the NCBI database of genetic variation [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=11125122
National Center for Biotechnology Information (NCBI). dbSNP: the NCBI database of genetic variation [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC29783
National Center for Biotechnology Information (NCBI). The UCSC Table Browser data retrieval tool [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=14681465
National Center for Biotechnology Information (NCBI). The UCSC Table Browser data retrieval tool [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC308837
National Center for Biotechnology Information (NCBI). Trimmomatic: a flexible trimmer for Illumina sequence data [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=24695404
National Center for Biotechnology Information (NCBI). Trimmomatic: a flexible trimmer for Illumina sequence data [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4103590
National Center for Biotechnology Information (NCBI). Fast gapped-read alignment with Bowtie 2 [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=22388286
National Center for Biotechnology Information (NCBI). Fast gapped-read alignment with Bowtie 2 [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3322381
National Center for Biotechnology Information (NCBI). Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2 [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=25516281
National Center for Biotechnology Information (NCBI). Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2 [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302049
National Center for Biotechnology Information (NCBI). NCBI Reference Sequence (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=15608248
National Center for Biotechnology Information (NCBI). CHiCAGO: robust detection of DNA looping interactions in Capture Hi-C data [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=27306882
National Center for Biotechnology Information (NCBI). CHiCAGO: robust detection of DNA looping interactions in Capture Hi-C data [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908757
National Center for Biotechnology Information (NCBI). A compendium of promoter-centered long-range chromatin interactions in the human genome [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=31501517
National Center for Biotechnology Information (NCBI). A Compendium of Promoter-Centered Long-Range Chromatin Interactions in the Human Genome [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6778519
National Center for Biotechnology Information (NCBI). Shared genetic effects on chromatin and gene expression indicate a role for enhancer priming in immune response [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=29379200
National Center for Biotechnology Information (NCBI). Shared genetic effects on chromatin and gene expression indicate a role for enhancer priming in immune response [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6548559
National Center for Biotechnology Information (NCBI). Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=27863251
National Center for Biotechnology Information (NCBI). Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5119954
National Center for Biotechnology Information (NCBI). Passive and active DNA methylation and the interplay with genetic variation in gene regulation [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=23755361
National Center for Biotechnology Information (NCBI). Passive and active DNA methylation and the interplay with genetic variation in gene regulation [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3673336
National Center for Biotechnology Information (NCBI). Transcriptome and genome sequencing uncovers functional variation in humans [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=24037378
National Center for Biotechnology Information (NCBI). Transcriptome and genome sequencing uncovers functional variation in humans [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3918453
National Center for Biotechnology Information (NCBI). Common genetic variation drives molecular heterogeneity in human iPSCs [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=28489815
National Center for Biotechnology Information (NCBI). Common genetic variation drives molecular heterogeneity in human iPSCs [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5524171
National Center for Biotechnology Information (NCBI). Genetic Ancestry and Natural Selection Drive Population Differences in Immune Responses to Pathogens [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=27768889
National Center for Biotechnology Information (NCBI). Genetic Adaptation and Neandertal Admixture Shaped the Immune System of Human Populations [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=27768888
National Center for Biotechnology Information (NCBI). Genetic Adaptation and Neandertal Admixture Shaped the Immune System of Human Populations [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5075285
National Center for Biotechnology Information (NCBI). Molecular and functional variation in iPSC-derived sensory neurons [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=29229984
National Center for Biotechnology Information (NCBI). Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=25436857
National Center for Biotechnology Information (NCBI). Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=26624892
National Center for Biotechnology Information (NCBI). Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666611
National Center for Biotechnology Information (NCBI). Developmental and genetic regulation of the human cortex transcriptome illuminate schizophrenia pathogenesis [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=30050107
National Center for Biotechnology Information (NCBI). Developmental and genetic regulation of the human cortex transcriptome illuminate schizophrenia pathogenesis [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438700
National Center for Biotechnology Information (NCBI). An xQTL map integrates the genetic architecture of the human brain’s transcriptome and epigenome [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=28869584
National Center for Biotechnology Information (NCBI). An xQTL map integrates the genetic architecture of the human brain’s transcriptome and epigenome [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785926
National Center for Biotechnology Information (NCBI). C-reactive protein upregulates the whole blood expression of CD59 – an integrative analysis [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=28922377
National Center for Biotechnology Information (NCBI). C-reactive protein upregulates the whole blood expression of CD59 – an integrative analysis [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5609773
National Center for Biotechnology Information (NCBI). Integrative analysis of gene expression, DNA methylation, physiological traits, and genetic variation in human skeletal muscle [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=31076557
National Center for Biotechnology Information (NCBI). Integrative analysis of gene expression, DNA methylation, physiological traits, and genetic variation in human skeletal muscle [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6561151
National Center for Biotechnology Information (NCBI). Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=22446964
National Center for Biotechnology Information (NCBI). GENETICS OF GENE EXPRESSION IN PRIMARY IMMUNE CELLS IDENTIFIES CELL-SPECIFIC MASTER REGULATORS AND ROLES OF HLA ALLELES [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3437404
National Center for Biotechnology Information (NCBI). Innate immune activity conditions the effect of regulatory variants upon monocyte gene expression [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=24604202
National Center for Biotechnology Information (NCBI). Innate Immune Activity Conditions the Effect of Regulatory Variants upon Monocyte Gene Expression [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4064786
National Center for Biotechnology Information (NCBI). Pathogenic implications for autoimmune mechanisms derived by comparative eQTL analysis of CD4+ versus CD8+ T cells [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=28248954
National Center for Biotechnology Information (NCBI). Pathogenic implications for autoimmune mechanisms derived by comparative eQTL analysis of CD4 + versus CD8 + T cells [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5352142
National Center for Biotechnology Information (NCBI). Genomic modulators of gene expression in human neutrophils [Internet]. [cited 2023 Oct 16]. Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=26151758
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