rs708915

This variant is located in the PLCB1 gene.

GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

Research that mentions this SNP (1)

Population admixture associated with disease prevalence in the Boston Puerto Rican health study
AssociationN=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.

Traits studied:Cardiovascular diseaseDepressionHypertensionObesityType 2 diabetes

About PLCB1

The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all PLCB1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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