He Li, Yang Zhi, Yu Haijing, Cheng Baoweng, Tang Wenru, Dong Yongli, Xiao Chunjie
Key Laboratory of Bioresources Conservation and Utilization and Human Genetics Center of Yunnan University, Kunming, PR China.
Dermatology. 2006;212(4):338-42. doi: 10.1159/000092284.
Although many arguments have been raised on the role of heredity in the etiology of acne, the relevant genetic elements in the pathogenesis of the disease are not well established.
The aim of our study was to evaluate the association between a genetic polymorphism in the promoter region of the CYP17 gene and the development of acne.
206 acne patients and 200 controls were included in the study. A polymerase chain reaction (PCR) sequencing technique was used to reveal a CYP17 gene polymorphism in its promoter region. A chi2 test was used for data analysis.
CYP17 -34T/C polymorphism was found and the frequency distribution of the C/C homozygotes and C allele in the male patients with severe acne (33.3 and 60.9%, respectively) were statistically significantly different from those of the control samples (18.2 and 46.6%; p < 0.05). No significant difference was observed between the female patients, mild + moderate male patients and their controls, respectively.
The CYP17 -34C/C homozygote Chinese men are at a significantly increased risk of developing severe acne.
尽管关于遗传因素在痤疮病因学中的作用已引发诸多争论，但该疾病发病机制中的相关遗传因素尚未完全明确。
本研究旨在评估CYP17基因启动子区域的一个基因多态性与痤疮发生之间的关联。
本研究纳入了206例痤疮患者和200例对照。采用聚合酶链反应（PCR）测序技术揭示CYP17基因启动子区域的基因多态性。采用卡方检验进行数据分析。
发现了CYP17 -34T/C多态性，重度痤疮男性患者中C/C纯合子和C等位基因的频率分布（分别为33.3%和60.9%）与对照样本（18.2%和46.6%；p<0.05）相比有统计学显著差异。女性患者、轻度+中度男性患者与其对照之间未观察到显著差异。
CYP17 -34C/C纯合子中国男性患重度痤疮的风险显著增加。
