|(A;A)||3||5.2x risk for T1D; 3.3x for RA|
|(A;C)||2.3||1.8x risk for T1D; 2x risk for RA|
The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 1.98 (CI 1.72-2.27), and for homozygotes, 3.32 (CI 1.93-5.69). [PMID 17554300]
rs6679677 was also reported in the same study to be associated with type-1 diabetes. The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 1.82 (CI 1.59-2.09), and for homozygotes, 5.19 (CI 3.15-8.55). [PMID 17554300]
Recently (Feb 2008), it has been asserted that the association between rs6679677 and type-1 diabetes is actually completely due to a closely linked, potentially causal variant identified as rs2476601, which is also known as Arg620Trp. In this study, apparently the largest to date, the odds ratio for the risk allele (of rs6679677) was reported to be 1.88 (CI: 1.66-2.13).[PMID 18305142]
|Trait||Type 1 diabetes|
|Title||Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci|
|Odds Ratio||NR NR|
|Title||Common variants at CD40 and other loci confer risk of rheumatoid arthritis|
|Odds Ratio||1.79 [1.65-1.94]|
|Trait||Type 1 diabetes|
|Title||Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes|
|Odds Ratio||1.89 [1.67-2.13]|
[PMID 19565500] Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis
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[PMID 18224312] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.
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[PMID 18533027] Worldwide population differentiation at disease-associated SNPs.
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[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
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[PMID 20722033] The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1.
[PMID 20808825] Novel association strategy with copy number variation for identifying new risk Loci of human diseases.
|qualified_impact||Insufficiently evaluated pathogenic|
|Title||Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.|
|Odds Ratio||1.20 [1.129-1.268]|