云南汉族痤疮与CYP11B1基因多态性的相关性研究

Association of CYPllB1 gene polymorphisms with acne vulgaris in Han populations in Yunnan province

目的探讨CYP11B1基因多态性与痤疮发病风险之间的相关性。方法SNaPshot法对云南汉族403例痤疮患者（包括轻型痤疮166例、重型痤疮237例）和207例健康对照CYPl181基因2个单核苷酸多态性位点：rs4736312和rs4534位点进行分型，ABI3730XL扫描分型结果。结果rs4736312位点：男性轻型痤疮组AA、AC和CC基因型频率分别为0、20．6％、79．4％，重型痤疮组为1．8％、26．8％、71．4％，男性健康对照组为7．6％、34．8％、57．6％。A等位基因的频率分布在男性痤疮组与健康对照组间、男性轻型痤疮与健康对照组间以及男性重型痤疮与健康对照组间，差异均具有统计学意义（分别为P〈0．01、〈O．05、〈0．05），而女性痤疮组、女性轻型痤疮组、女性重型痤疮组A、G等位基因频率分布与健康对照组相比．差异均无统计学意义（P〉0．05）。rs4534位点：男性、女性两组别的痤疮组、轻型痤疮组及重型痤疮组的AA、AG、GG基因型频率分布和A、G等位基因频率分布与各自健康对照组间，差异均无统计学意义（P〉0．05）。结论CYP11B1基因中rs4736312位点与云南汉族男性痤疮发病相关，而rs4534位点与云南汉族痤疮的发病无相关。

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.