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Lupus is it genetic

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It is now well understood that lupus is caused by both environmental and genetic factors. At present, it is estimated that genetics explain between 40% to 60% of the risk for lupus worldwide. However, the genetics involved are not simple as this isn't a Mendelian disease triggered by a mutation in one gene alone; at least eighty genetic regions (referred to as loci) are connected with lupus while larger-scale studies suggest there may be many more. Therefore, Lupus can rightly be referred to as an ailment driven by numerous genes - i.e., polygenetic disorder- owing partly due its combination of various environmental triggers and multiple inherited factors making like conditions categorised under "complex" diseases category.

Twelve years ago, there were fewer than 10 genetic loci known to be associated with lupus. Generally, these were discovered by family studies. However, the reduction in genotyping costs and the creation of a map of the human genome at “the turn of this century” has led to large-scale (thousands) genetic studies that use information on one million or more specific genes throughout an entire genome for people who have SLE alongside healthy controls. The comparison between allele frequencies from such whole-genome variants among cases versus controls is known as GWAS - Genome Wide Association Study- which enables researchers' discovery related leading common variations equal or greater than >0f1%) within populations exposed to many diseases itself. Among Europeans alone consist three massive Lupus-GWAS analyses while Southeast Asians make up another three followed by Hispanics with their own separate analyzing regulations closing off any missing correlates crucially tied back towards identifying eight anonymous lupus-related genetics’ traits outside protein coding regions but directly impacting regulation-genes altered activity geographically-speaking /\ referred gene expression differences due solely based upon naturally occurring clientele-circumstances presented before its very eyes!

Genetic factors that increase the risk of developing SLE primarily operate by modifying gene expression in immune cells.

It is important to note, therefore, that there is no such thing as the "Lupus gene".

There are only a few rare instances where a single gene can impose significant risks of disease. Generally, numerous genetic loci play roles in the illness, and most of them lie...

Outside of genes, any particular factor is not sufficient for the development of lupus. Each genetic locus associated with lupus may contain many polymorphic sites, each normally having two alleles - one of which carries a risk for lupus. Lupus patients have a "high load" of such alleles; they carry more lupus-associated variants than people in the general population without this disease.

An important area of research into the polygenic nature of lupus has led to the conclusion that severe disease, such as organ involvement, may arise through an extremely high volume of genetic risk alleles. This is due to non-specific functional mechanisms resulting in specific organ involvement being less prominent than excessive exposure to lupus-risk alleles creating a more serious phenotype with common occurrences of organ involvement.

Follow the link of the selected polymorphism to read a brief description of how the selected polymorphism affects Systemic lupus erythematosus and see a list of existing studies.

SNP polymorphisms related to the topic Systemic lupus erythematosus:

rs4728142Validation of IRF5 as a multiple sclerosis risk gene: putative role in human herpes virus-6 infection.
rs704840TNFSF4 gene polymorphism affects plasma TNFSF4 levels and risk of systemic lupus erythematosus.
rs3821236The STAT4 risk haplotype is associated with systemic lupus erythematosus through two independent effects that correlate with gene expression and act additionally with IRF5 to increase risk.
rs1883832The rs1883832 polymorphism of the CD40 gene is associated with serological reactivation of Epstein-Barr virus with conversion to systemic lupus erythematosus in at-risk individuals.
rs13277113The rs13277113 genotype associated with the BLK pathway is more common in patients with systemic lupus erythematosus and is associated with low gene expression and increased frequency of exacerbations.
rs2004640The IRF5 rs2004640-T allele, a novel genetic factor in systemic lupus erythematosus, is not associated with rheumatoid arthritis.
rs10488631The interferon regulatory factor 5 (IRF5) gene variant causes a 2-fold increased risk of systemic lupus erythematosus
rs2736340The FAM167A-BLK rs2736340 polymorphism is associated with susceptibility to autoimmune diseases, particularly rheumatoid arthritis and systemic lupus erythematosus.
rs4639966Single nucleotide polymorphism rs4639966 at 11q23.3 is associated with clinical manifestations of systemic lupus erythematosus.
rs2187668Risk of autoimmune diseases (lupus, gluten disease).
rs10499197Risk haplotype encompassing TNFAIP3 associated with lupus nephritis and haematological manifestations.
rs2205960Replication of the association of the TNFSF4 promoter region (OX40L) with systemic lupus erythematosus.
rs13385731RasGRP3 gene variation is associated with clinical features of systemic lupus erythematosus.
rs3024505Predisposition variants for ulcerative colitis, Crohn's disease and type 1 diabetes.
rs2230926Multiple polymorphisms in the TNFAIP3 region are independently associated with rheumatoid arthritis and systemic lupus erythematosus.
rs11860650ITGAM gene polymorphisms confer a higher risk of discoid cutaneous lupus erythematosus than systemic lupus erythematosus.
rs1143679ITGAM coding variant (rs1143679) influences the risk of kidney disease, discoid rash and immunological manifestations in patients with systemic lupus erythematosus.
rs907715Interleukin-21: a novel inflammatory mediator in systemic lupus erythematosus.
rs10516487Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.
rs5029939Association of TNFAIP3 gene polymorphism ( rs5029939 ) with susceptibility and clinical phenotype of systemic lupus erythematosus.
rs1990760Associated with type 1 diabetes mellitus, organ-specific autoimmune diseases including Graves' disease.
rs6656401An updated analysis of 85,939 samples confirms an association between the CR1 rs6656401 polymorphism and Alzheimer's disease.
rs1800629A meta-analysis of 21 studies showed that in European populations, the rs1800629 (A) allele was associated with an increased risk of systemic lupus erythematosus (4-fold higher).
rs2431697A functional variant of the microRNA-146a promoter modulates its expression and increases the risk of systemic lupus erythematosus.
rs75748651.3-fold risk of rheumatoid arthritis
rs2275247
rs12711490
rs13239597
rs1635852
rs9303277
rs960709
rs2176082
rs7172677
rs10498070
rs2051549
rs11717455
rs548234
rs11574637
rs9937837
rs131654
rs6445975
rs9270984
rs12537284
rs3131379
rs558702
rs2301271
rs6049839
rs4917014
rs5754217
rs4963128
rs10036748
rs4684256
rs1128334
rs2618476
rs11073328
rs9271100
rs10911628
rs8023715
rs1385374
rs9888739
rs12141391
rs1150754
rs12949531
rs2647012
rs7812879
rs7197475
rs11101442
rs10276619
rs6695567
rs6590330
rs979233
rs7329174
rs12822507
rs729302
rs1913517
rs4852324
rs4948496
rs12599402
rs3734266
rs10857712
rs2254546
rs7097397
rs4522865
rs12629106
rs17039212
rs10845606
rs3130320
rs6705628
rs10911390
rs4622329
rs340630
rs11150610
rs7186852
rs6804441
rs34015031
rs13306575
rs35131781
rs2248932
rs172378
rs3129860
rs17266594
rs633724
rs2431099
rs2327832
rs3748079
rs4794067
rs1205
rs17250932
rs1800630
rs419788
rs3093061
rs3733197
rs6835457
rs2304256
rs241428
rs2075799
rs3745567
rs2280381
rs9276606
rs2071278
rs11569523
rs11117956
rs932859
rs2250656
rs17047631
rs677066
rs423490
rs3738468
rs10779339
rs2230205
rs4310446
rs11118131
rs4807895
rs12034383
rs2025935
rs1408077
rs1571344
rs2618479
rs1167796
rs610604
rs9275596
rs3024839
rs5744168
rs11889341
rs4572884
rs10168266
rs3024896
rs1517352
rs403016
rs10954213
rs10181656
rs7582694
rs509749
rs2241524
rs1801274
rs9275572
rs3818361
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