2019•The Journal of Gene MedicineRequires access

The CYP17A1 gene polymorphisms are associated with hypercholesterolemia in Han Chinese

Ning Zhang, Huimei Chen, Jian Jia, Xiaoman Ye, Haixia Ding, Yiyang Zhan

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Abstract

BACKGROUND: The CYP17A1 gene has been identified to associate with hypertension in Chinese population. However, the association between CYP17A1 polymorphisms and hypertension-related factors is unclear. The present study aimed to investigate the relation between CYP17A1 single nucleotide polymorphisms (SNPs) and serum lipid profiles. METHODS: In total, 1350 participants were included in the study. Six SNPs in or near CYP17A1 gene were genotyped in a Han Chinese population in two stages. RESULTS: There was a statistically significant association of rs1004467 (adjusted odds ratio = 0.783, 95% confidence interval = 0.667-0.919, p < 0.05) and rs11191548 (adjusted odds ratio = 0.788, 95% confidence interval = 0.672-0.925, p < 0.05) with hypercholesterolemia after adjustment for potential factors. Additionally, the rs1004467 minor G-allele and the rs11191548 minor C-allele were significantly associated with the lower serum total cholesterol levels (p < 0.05 for all). CONCLUSIONS: The rs1004467 and rs11191548 in the CYP17A1 gene are associated with a decreased risk of hypercholesterolemia and lower serum TC levels in Han Chinese.

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What this paper is about

BACKGROUND: The CYP17A1 gene has been identified to associate with hypertension in Chinese population. However, the association between CYP17A1 polymorphisms and hypertension-related factors is unclear. The present study aimed to investigate the relation between CYP17A1 single nucleotide polymorphisms (SNPs) and serum lipid profiles. METHODS: In total, 1350 participants were included in the study. Six SNPs in or near CYP17A1 gene were genotyped in a Han Chinese population in two stages. RESULTS: There was a statistically significant association of rs1004467 (adjusted odds ratio = 0.783, 95% confidence interval = 0.667-0.919, p < 0.05) and rs11191548 (adjusted odds ratio = 0.788, 95% confidence interval = 0.672-0.925, p < 0.05) with hypercholesterolemia after adjustment for potential factors. Additionally, the rs1004467 minor G-allele and the rs11191548 minor C-allele were significantly associated with the lower serum total cholesterol levels (p < 0.05 for all). CONCLUSIONS: The rs1004467 and rs11191548 in the CYP17A1 gene are associated with a decreased risk of hypercholesterolemia and lower serum TC levels in Han Chinese.

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Available abstract

BACKGROUND: The CYP17A1 gene has been identified to associate with hypertension in Chinese population. However, the association between CYP17A1 polymorphisms and hypertension-related factors is unclear. The present study aimed to investigate the relation between CYP17A1 single nucleotide polymorphisms (SNPs) and serum lipid profiles. METHODS: In total, 1350 participants were included in the study. Six SNPs in or near CYP17A1 gene were genotyped in a Han Chinese population in two stages. RESULTS: There was a statistically significant association of rs1004467 (adjusted odds ratio = 0.783, 95% confidence interval = 0.667-0.919, p < 0.05) and rs11191548 (adjusted odds ratio = 0.788, 95% confidence interval = 0.672-0.925, p < 0.05) with hypercholesterolemia after adjustment for potential factors. Additionally, the rs1004467 minor G-allele and the rs11191548 minor C-allele were significantly associated with the lower serum total cholesterol levels (p < 0.05 for all). CONCLUSIONS: The rs1004467 and rs11191548 in the CYP17A1 gene are associated with a decreased risk of hypercholesterolemia and lower serum TC levels in Han Chinese.

Key concepts: CYP17A1, Single-nucleotide polymorphism, Odds ratio, Confidence interval, Minor allele frequency, Allele, Internal medicine, Medicine

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