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Is rheumatoid arthritis genetic

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Chronic abnormal inflammation is the hallmark of rheumatoid arthritis, a disease that primarily affects the joints. The most common symptoms include joint pain, swelling, and stiffness, with small joints in the hands and feet being the most frequently affected. However, larger joints like the shoulders, hips, and knees may also become involved later in the disease. The pattern of joint involvement is typically symmetrical, meaning that if one hand is affected, the other hand is likely to be involved as well. People with rheumatoid arthritis often experience increased joint pain and stiffness upon waking up in the morning or after prolonged periods of rest.

Inflammation of various tissues and organs, such as the eyes, lungs, and blood vessels, can also be caused by rheumatoid arthritis. Other indications and manifestations of this ailment may comprise fatigue, mild fever, weight loss, and anemia due to a deficiency of red blood cells. Certain individuals may also develop rheumatoid nodules, which are solid, benign growths that can emerge beneath the skin or in other parts of the body.

Numerous genes have been analyzed to determine their potential role as risk factors for rheumatoid arthritis, with a majority of them being associated with immune system function. The most noteworthy genetic risk factors for this condition are variations in the human leukocyte antigen (HLA) genes, particularly the HLA-DRB1 gene. These genes produce proteins that aid the immune system in distinguishing between the body's own proteins and those produced by foreign invaders like viruses and bacteria. Other gene variations seem to have a lesser effect on an individual's likelihood of developing rheumatoid arthritis.

STAT4, TRAF1/C5, and PTPN22 are genetic markers associated with rheumatoid arthritis. The STAT4 gene is responsible for regulating and activating the immune system, and mutations in this gene are also found in autoimmune disorders such as lupus. The TRAF1/C5 genes are known to contribute significantly to chronic inflammation. Additionally, in Caucasian patients, the PTPN22 gene plays a crucial role in supporting immune cell responses, affecting the development and manifestation of RA. This gene is one of the top genes linked to the risk of developing RA.

HLA-DR4, also referred to as Human Leukocyte Antigen or the major histocompatibility complex (MHC), is a gene that distinguishes itself from others. According to Xinli Hu, MD, PhD, director of computational genetics and a senior computational geneticist in Systems Immunology at Pfizer, this gene is predominantly linked with RA. Individuals possessing this gene have a higher likelihood of developing RA compared to those who do not.

Rheumatoid arthritis is thought to be influenced by non-genetic factors as well. Although the exact mechanism is unclear, these factors may activate the condition in individuals who are susceptible. Some potential triggers include alterations in sex hormones, particularly in women, exposure to specific types of dust or fibers in the workplace, and viral or bacterial infections. Additionally, long-term smoking is a known risk factor for developing rheumatoid arthritis and is linked to more severe symptoms in those who already have the disease.

Follow the link of the selected polymorphism to read a brief description of how the selected polymorphism affects Rheumatoid arthritis and see a list of existing studies.

SNP polymorphisms related to the topic Rheumatoid arthritis:

rs4272
rs4678
rs26232The C5orf30 rs26232 variant is a negative regulator of tissue damage in rheumatoid arthritis and is associated with joint damage in rheumatoid arthritis.
rs227163
rs231735
rs331463
rs615672
rs624988
rs657075
rs660895
rs678347
rs726288
rs743777
rs805297
rs874040RBPJ polymorphism associated with rheumatoid arthritis alters memory CD4+ T cells.
rs881375
rs909685
rs934734
rs947474
rs951005
rs968567
rs998731
rs1043099
rs1160542
rs1516971
rs1571878
rs1678542
rs1854853
rs1858037
rs1877030
rs1893592
rs1950897
rs1953126
rs1980422
rs2072438
rs2075876
rs2104286Genetic heterogeneity of IL2RA indicates susceptibility to multiple sclerosis and susceptibility to type 1 diabetes.
rs2230926Multiple polymorphisms in the TNFAIP3 region are independently associated with rheumatoid arthritis and systemic lupus erythematosus.
rs2233424
rs2233434
rs2240335
rs2240340
rs2317230
rs2327832
rs2442728
rs2451258
rs2469434
rs2476601This important SNP, located in the PTPN22 gene and also known as R620W or 1858C>T, may influence the risk of multiple autoimmune diseases such as rheumatoid arthritis, type 1 diabetes, autoimmune thyroiditis and systemic lupus erythematosus.
rs2561477
rs2582532
rs2664035
rs2671692
rs2736337
rs2736340The FAM167A-BLK rs2736340 polymorphism is associated with susceptibility to autoimmune diseases, particularly rheumatoid arthritis and systemic lupus erythematosus.
rs2812378
rs2837960
rs2841277
rs2847297
rs2867461
rs2872507
rs2961663
rs3087243The CTLA4 allelic variant alters T cell phosphorylation patterns and causes an increased risk of autoimmune diseases.
rs3093023
rs3093024
rs3125734
rs3184504A variant of celiac disease genetic risk associated with immune response. Also carrier associated type 1 diabetes.
rs3218251
rs3738919The ITGAV rs3738919-C allele is associated with rheumatoid arthritis in Caucasians.
rs3761847
rs3763309
rs3766379
rs3781913
rs3806624
rs3816587
rs3824660
rs3890745
rs4305317
rs4409785
rs4452313
rs4750316
rs4780401
rs4810485
rs5029937The single nucleotide polymorphism rs5029937 in the TNFAIP3 gene correlates with the risk of rheumatoid arthritis.
rs6457617
rs6457620
rs6496667
rs6679677An allelic variant of the PHTF1 gene is associated with a 5.2-fold increased risk of type 1 diabetes and a 3.3-fold increased risk of rheumatoid arthritis.
rs6682654
rs6684865
rs6715284
rs6732565
rs6822844Combined with the rs13119723 breakage, the study showed the strongest association with celiac disease among Caucasian patients.
rs6859219
rs6910071
rs6920220
rs7528684
rs75748651.3-fold risk of rheumatoid arthritis
rs7731626
rs7765379
rs8026898
rs8032939
rs8133843
rs9268839
rs9275406
rs9372120
rs9550642
rs9571178
rs9653442
rs9826828
rs10175798
rs10488631The interferon regulatory factor 5 (IRF5) gene variant causes a 2-fold increased risk of systemic lupus erythematosus
rs10499194
rs10760130
rs10774624
rs10818488The rs10818488 polymorphism in the TRAF1/C region is associated with genetic predisposition to rheumatoid arthritis and systemic lupus erythematosus.
rs10821944
rs10865035
rs10985070
rs11089637
rs11162922
rs11203203
rs11203366
rs11574914
rs11676922The combination of CD28 (rs1980422) and IRF5 (rs10488631) polymorphisms is associated with seropositivity in rheumatoid arthritis.
rs11761231
rs11889341
rs11900673
rs11933540
rs12131057
rs12140275
rs12379034
rs12525220
rs12529514
rs12831974
rs13017599
rs13031237
rs13119723Combined with the rs6822844 breakage, the study showed the strongest association with celiac disease among Caucasian patients.
rs13142500
rs13192471
rs13192841
rs13315591
rs13330176
rs28411352
rs34695944
rs45475795
rs67250450
rs71508903
rs72634030
rs73013527
rs73081554
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