The tetratricopeptide repeat domain protein 39B gene (TTC39B) single nucleotide polymorphism (SNP) of rs581080 has been associated with serum high-density lipoprotein cholesterol (HDL-C) levels. However, little is known about such association in the Chinese populations. The present study was performed to assess the association between the TTC39B rs581080 SNP and serum lipid levels and the risk of coronary artery disease (CAD) and ischemic stroke (IS) in the Guangxi Han population. Genotypes of the TTC39B rs581080 SNP in 1741 unrelated subjects (CAD, 578; IS, 537; and healthy controls; 624) were determined by the Snapshot Technology. The genotypic and allelic frequencies of the TTC39B rs581080 SNP were different between the CAD/IS patients and controls (P < 0.01 for all). The CG/GG genotypes and G allele were associated with an increased risk of CAD (P = 0.001 for CG/GG vs. CC, P = 0.003 for G vs. C) and IS (P = 0.002 for CG/GG vs. CC; P = 0.004 for G vs. C). The CG/GG genotypes in the healthy controls, but not in CAD or IS patients, were also associated with a decreased serum HDL-C concentration. These results suggest that the TTC39B rs581080 SNP is associated with the risk of CAD and IS in our study population. It is likely to increase the risk of CAD and IS by reducing serum HDL-C levels.
Keywords: The tetratricopeptide repeat domain protein 39B; coronary artery disease; ischemic stroke; lipids; single nucleotide polymorphism.
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