Abstract
Objective To analyze the association of CYP11B1 gene polymorphisms with the risk of acne vulgaris in Han populations in Yunnan province. Methods Totally, 403 patients with ache (including 166 cases of mild acne and 237 cases of severe ache) and 207 healthy controls of Han nationality in Yunnan province were recruited to this study. Genomic DNA was extracted from the peripheral blood samples of these subjects. A SNaPshot assay was performed to determine the genotypes of two single nucleotide polymorphisms (SNPs) of the CYPllBI gene, including rs4736312 and rs4534. The extension products were analyzed by electrophoresis in an ABI Prism 3730xl DNA analyzer. Results The frequency of AA, AC and CC genotype of the SNP rs4736312 was 7.6%, 34.8% and 57.6% respectively in healthy male controls, 0, 20.6% and 79.4% respectively in male patients with mild ache, 1.8%, 26.8% and 71.4% respectively in male patients with severe acne. The frequency of A allele at the SNP rs4736312 in healthy male controls was significantly different from that in male patients with ache (P 〈 0.01 ), male patients with mild ache (P 〈 0.05), and male patients with severe acnc (P 〈 0.05), while the frequency of both A and G allele was similar between healthy female controls and female patients with acne, female patients with mild ache, and female patients with severe acne (all P 〉 0.05 ). No significant difference was observed in the genotype distribution or allele frequency of the SNP rs4534 between male/female healthy controls and male/female patients with acne, mild ache or severe ache (all P 〉 0.05 ). Conclusion The development of ache is likely to be associated with the SNP rs4736312 of the CYPllB1 gene in males, but unassociated with the SNP rs4534 in males or females, of Han nationality in Yunnan province. Key words: Acne vulgaris; 11β-hydroxylase; Polymorphisms, single nucleotide
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