rs10488172
This variant is located in the EXOC4 gene.
▶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 EXOC4
The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
View all EXOC4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…