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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:
rs4728142 | Validation of IRF5 as a multiple sclerosis risk gene: putative role in human herpes virus-6 infection. |
rs704840 | TNFSF4 gene polymorphism affects plasma TNFSF4 levels and risk of systemic lupus erythematosus. |
rs3821236 | The 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. |
rs1883832 | The 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. |
rs13277113 | The 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. |
rs2004640 | The IRF5 rs2004640-T allele, a novel genetic factor in systemic lupus erythematosus, is not associated with rheumatoid arthritis. |
rs10488631 | The interferon regulatory factor 5 (IRF5) gene variant causes a 2-fold increased risk of systemic lupus erythematosus |
rs2736340 | The FAM167A-BLK rs2736340 polymorphism is associated with susceptibility to autoimmune diseases, particularly rheumatoid arthritis and systemic lupus erythematosus. |
rs4639966 | Single nucleotide polymorphism rs4639966 at 11q23.3 is associated with clinical manifestations of systemic lupus erythematosus. |
rs2187668 | Risk of autoimmune diseases (lupus, gluten disease). |
rs10499197 | Risk haplotype encompassing TNFAIP3 associated with lupus nephritis and haematological manifestations. |
rs2205960 | Replication of the association of the TNFSF4 promoter region (OX40L) with systemic lupus erythematosus. |
rs13385731 | RasGRP3 gene variation is associated with clinical features of systemic lupus erythematosus. |
rs3024505 | Predisposition variants for ulcerative colitis, Crohn's disease and type 1 diabetes. |
rs2230926 | Multiple polymorphisms in the TNFAIP3 region are independently associated with rheumatoid arthritis and systemic lupus erythematosus. |
rs11860650 | ITGAM gene polymorphisms confer a higher risk of discoid cutaneous lupus erythematosus than systemic lupus erythematosus. |
rs1143679 | ITGAM coding variant (rs1143679) influences the risk of kidney disease, discoid rash and immunological manifestations in patients with systemic lupus erythematosus. |
rs907715 | Interleukin-21: a novel inflammatory mediator in systemic lupus erythematosus. |
rs10516487 | Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. |
rs5029939 | Association of TNFAIP3 gene polymorphism ( rs5029939 ) with susceptibility and clinical phenotype of systemic lupus erythematosus. |
rs1990760 | Associated with type 1 diabetes mellitus, organ-specific autoimmune diseases including Graves' disease. |
rs6656401 | An updated analysis of 85,939 samples confirms an association between the CR1 rs6656401 polymorphism and Alzheimer's disease. |
rs1800629 | A 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). |
rs2431697 | A functional variant of the microRNA-146a promoter modulates its expression and increases the risk of systemic lupus erythematosus. |
rs7574865 | 1.3-fold risk of rheumatoid arthritis |
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Li Dali, a National Foundation for Outstanding Youth Fund recipient, is a researcher at the School of Life Sciences in East China Normal University. He earned his PhD in genetics from Hunan Normal University in 2007 and conducted collaborative research at Texas A&M University during his doctoral studies. Li Dali and his team have optimized and innovated gene editing technology, leading to the establishment of a world-class system for constructing gene editing disease models.