雄激素受体基因第一外显子CAG重复序列长度多态性与痤疮的相关性

Length of CAG repeat in exon 1 of the androgen receptor gene is associated with the development of aene

目的探讨人雄激素受体基因第一外显子CAG重复序列长度多态性与痤疮发生之间的关系。方法研究对象为中国东北地区238例痤疮患者和207例健康对照，抽取外周血后分离纯化出基因组DNA，采用微卫星扫描（STRs）方法分析CAG重复序列的多态性。结果男性病例组和对照组的CAG重复均数分别为22．70±3．09和23．48±2．83，两组之间差异有统计学意义（P=0．046）；将对照组中CAG重复次数的中位数23作为分割点分组比较，长／短CAG片段在男性病例和对照中的分布差异有统计学意义，携带有CAG短片段的男性较携带CAG长片段的男性患痤疮的风险性明显增加（OR值2．07；95％可信限为1．21—3．54）。女性病例组和对照组的CAG重复均数分别为23．41±2．87和23．85±0．21，两组之间差异无统计学意义（P=0．115）；按中位数分组比较长／短CAG片段在女性病例和对照中的分布差异有统计学意义，携带有CAG短片段的女性患痤疮的风险性明显增加（P=0．013，OR值2．05；95％可信限为1．18～3．56）。结论雄激素受体基因第一外显子CAG的重复次数与中国东北地区痤疮的发生有关，CAG重复次数少的男性个体患痤疮的风险性增加，雄激素受体基因第一外显子CAG的重复次数可作为痤疮的遗传易感标志之一。

Objective To investigate the relationship of CAG repeat length polymorphism in the androgen receptor （AR） gene to the development of acne. Methods A total of 238 patients with acne vulgaris and 207 healthy human controls in Northeast China were included in this study. Genomic DNA was isolated and purified from the blood of these subjects. The CAG repeat lengths in the AR gene were analyzed by somatic microsatellites （STRs）. Results A significant difference was found in the CAG repeat number between the male acne patients （22.70 ± 3.09） and male controls （23.48 ± 2.83, P = 0.046）, but not between the female cases and controls （23.41 ± 2.87 versus 23.85 ± 0.21, P = 0.12）. In order to assess the risk associated with CAG repeats, the male and female subjects were dichotomized based on the median repeat length in the corresponding control group as the arbitrary cut-off point. Those men and women with a short CAG repeat length （〈 23 in men, and 〈 24 in women） had a significantly increased risk for acne than those with a long CAG repeat length （men： 95% confidence interval, 1.21-3.54, OR = 2.07, P = 0.008; women： 95% confidence interval, 1.18-3.56, OR = 2.05, P = 0.01 ）. Conclusions This study strongly indicates that the CAG repeat length in AR gene is associated with the development of aene in Northeast China, and those men with a short CAG repeat length seem to have a high risk for acne. Consequently, CAG repeat length may serve as a genetic susceptibility marker.