rs1353251
This variant is located in the IL7R gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Population admixture associated with disease prevalence in the Boston Puerto Rican health studyAssociationN=1,129Chao-Qiang Lai et al.(2009)· Human Genetics
This study examined whether genetic ancestry is associated with disease prevalence in the Boston Puerto Rican Health Study (N=1,129). Using 100 ancestry informative markers (AIMs), the authors estimated that the Puerto Rican population is 57.2% European, 27.4% African, and 15.4% Native American ancestry. African ancestry was negatively associated with type 2 diabetes (OR=0.33, 95% CI 0.13-0.84, P=0.021) and cardiovascular disease (OR=0.32, 95% CI 0.10-1.00, P=0.049), while positively associated with hypertension (OR=2.94, 95% CI 1.14-7.61, P=0.026). No significant association was found between ancestry and obesity or depression. The results demonstrate that population admixture can confound genetic association studies and that adjustment for ancestry is critical when ancestry is associated with disease.
About IL7R
The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]
View all IL7R variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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