中华皮肤科杂志 ›› 2013, Vol. 46 ›› Issue (6): 382-385.

• 论著 • 上一篇    下一篇

云南汉族痤疮与CYP11B1基因多态性的相关性研究

杨婷1,2,何黎3,李玉明4,5,吴文娟6,涂颖7,杨智7,杨小燕8,起珏6   

  1. 1. 黄石市中心医院普爱院区皮肤2科
    2. 昆明医科大学第一附属医院
    3. 昆明市昆明医学院第一附属医院皮肤科
    4. 昆明医学大学校医院
    5.
    6. 昆明医学院第一附属医院
    7. 昆明医学院第一附属医院皮肤科
    8. 昆明医科大学附属延安医院
  • 收稿日期:2012-11-15 修回日期:2013-02-06 出版日期:2013-06-15 发布日期:2013-06-01
  • 通讯作者: 何黎 E-mail:drheli2662@126.com
  • 基金资助:
    国家自然科学地区科学基金;云南省应用基础项目面上项目

Association of CYP11B1 gene polymorphisms with acne vulgaris in Han populations in Yunnan province

  • Received:2012-11-15 Revised:2013-02-06 Online:2013-06-15 Published:2013-06-01

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摘要： 【摘要】 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CYP11B1基因2个单核苷酸多态性位点：rs4736312和rs4534位点进行分型，ABI 3730XL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、< 0.05、< 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。 【关键词】 痤疮，寻常； 11β-羟化酶； 多态性，单核苷酸

关键词: 痤疮，寻常, 11-β羟化酶, 多态性，单核苷酸

Abstract: YANG Ting*, HE Li, LI Yu-ming, WU Wen-juan, TU Ying, YANG Zhi, YANG Xiao-yan, QI Jue. *Department of Dermatology, First Affiliated Hospital of Kunming Medical University, Kunming 650032, China Corresponding author: HE Li, Email: heli2662@yahoo.com.cn 【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 acne （including 166 cases of mild acne and 237 cases of severe acne） 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 CYP11B1 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 acne, 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 acne （P ＜ 0.01）, male patients with mild acne （P < 0.05）, and male patients with severe acne （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 acne, 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 acne or severe acne （all P > 0.05）. Conclusion The development of acne is likely to be associated with the SNP rs4736312 of the CYP11B1 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

Key words: Acne vulgaris, 11 - β hydroxylase

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