Previous genome-wide association studies have showed that several tetratricopeptide repeat domain protein 39B gene (TTC39B) single nucleotide polymorphisms (rs581080 and rs471364) were associated with serum high-density lipoprotein cholesterol levels among populations of European ancestry, but the results are inconsistent. Furthermore, little is known about the association between TTC39B SNPs and the susceptibility to coronary heart disease (CHD) and ischemic stroke (IS). Therefore, this study was undertaken to detect the association between the TTC39B rs1407977 SNP and serum lipid levels and the risk of CHD and IS in a Southern Chinese Han population. Genotyping of the SNP in 1741 unrelated subjects (healthy controls, 624; CHD patients, 578 and IS patients, 539) was performed by the Snapshot Technology. The genotypic and allelic frequencies of the SNP were different between the control subjects and CHD patients, or between the control subjects and IS patients (P ≤ 0.001). The T allele frequency was higher in CHD (16.2%) and IS (15.0%) patients than in controls (9.8%). The T allele carriers had higher risk of CHD (OR = 1.728, 95% CI = 1.290-2.316, P < 0.001) and IS (OR = 1.518, 95% CI = 1.182-2.116, P = 0.002) than the T allele non-carriers after controlling for potential confounders. No significant association was observed between the TTC39B rs1407977 SNP and all seven serum lipid traits. These results suggest that the TTC39B rs1407977 SNP is associated with the risk of CHD and IS in our study population and does not depend on serum lipid levels.
Keywords: Tetratricopeptide repeat domain protein 39B; coronary heart disease; ischemic stroke; risk factors; single nucleotide polymorphism.
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