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雄激素受体基因CAG、GGN重复片段多态性与指长比(2D∶4D)的关联性
Relationship between androgen receptor CAG/GGN repeat polymorphisms and the ratio of 2D∶4D
目的 探讨雄激素受体（AR）基因CAG、GGN重复片段多态性与指长比之间的关联性。方法 研究对象来自宁夏医科大学2011级健康学生共 685 例, 男性294例，平均年龄(20.02±1.28)岁，女性391例，平均年龄(19.25±1.55)岁。用ABI 3730XL测序仪测定AR基因的(CAG)n及(GGN)n重复数目，照片打好点后用电子游标卡尺对指长比进行测定。2D∶4D经均值±2标准差筛选，用独立样本t检验检测2D∶4D在男性与女性个体中的分布差异。用四分位法筛选出较低 (Q1)与较高 (Q3) 2D∶4D。用相关分析检验AR基因中CAG和GGN两个多态性位点与2D∶4D 的关联性。结果 女性右手、左手及左右手平均 2D∶4D 均高于男性 (P＜0.05,P＜0.01,P＜0.01)，但DR-L2D∶4D的分布差异无统计学意义（P>0.05）。AR CAG/GGN重复多态性与男性右手及左手2D∶4D无关联性(P>0.05)，但CAG重复多态性与Q1 D R-L 及Q3平均2D∶4D存在关联性(r=0.280,P＜0.05,r=0.274, P＜0.05)。女性较短 CAG 等位基因与 Q3 平均2D∶4D 存在关联性 (r=0.337,P＜0.05)，女性较长 CAG 等位基因与 Q3 右手及 DR-L2D∶4D 存在关联性 (r=0.238,P＜0.05; r=0.175, P＜0.05），女性平均 CAG 等位基因与Q3平均 2D∶4D存在关联性 (r=0.236, P＜0.05)。女性较长 GGN 等位基因与女性右手 2D∶4D存在关联性 (r=0.204,P＜0.05)，女性平均 GGN 等位基因与Q3平均2D∶4D存在关联性 (r=0.225, P＜0.05)。结论 AR基因CAG与GGN重复片段多态性可能与指长比存在关联性，联合运用四分位法与相关分析可能是揭示AR多态性与指长比关联性的一种更好的方法。
Objective The ratio of the length of the second finger to the fourth finger (2D∶4D) in humans is considered as a putative marker of prenatal exposure to androgen. Some studies have reported the relationship between CAG number and the ratio of 2D∶4D, but their results were variable. Here, we investigated the effect of CAG/GGN repeat polymorphisms in androgen receptor（AR）on 2D∶4D in Chinese people, and we wanted to investigate a suitable statistical method to find the real relationship between AR CAG/GGN repeat polymorphisms and the 2D∶4D ratio. Methods We examined 294 males and 391 females. The CAG and GGN repeats of the AR gene were analyzed on ABI 3730 DNA analyzer, using Peak Scanner software V1.0 to ascertain the size of AR alleles. The 2D∶4D ratio was standardized by x ±2s. We used the quartile method to choose the lower (Q1) and higher (Q3) 2D∶4D ratio. Pearson’s product moment correlation coefficients were used to find the relationship between AR CAG/GGN repeat polymorphisms and the 2D∶4D ratio. Results Females showed significantly higher 2D∶4D ratio than males in the right, and mean 2D∶4D ratio of both hards but not in the DR-L 2D∶4D ratio. There was no relationship between AR CAG/GGN alleles and right、left 2D∶4D of males (P>0.05)，but CAG alleles were positively related to Q1 DR-L, Q3 Mean 2D∶4D ratio of males (r=0.280,P＜0.05,r=0.274,P＜0.05). The shorter CAG alleles were positively related to Q3 Mean 2D∶4D ratio of females (r=0.337,P＜0.05)，the longer CAG alleles were positively related to Q3 right hand and DR-L 2D∶4D ratio of females (r=0.238,P＜0.05;r=0.175, P＜0.05)，the Mean CAG alleles were positively related to Q3 Mean 2D∶4D ratio of females (r=0.236, P P＜0.05), the longer GGN alleles were positively related to Q1 right hand 2D∶4D ratio of females (r=0.204, P＜0.05)，the Mean GGN alleles were positively related to Q3 Mean 2D∶4D ratio of females (r=0.225, P＜0.05). The longer CAG alleles were positively related to right hand 2D∶4D ratio of females. The longer GGN alleles were positively related to right hand 2D∶4D ratio of females. Conclusion 2D∶4D ratio may be used as a simple proxy for AR variation. Combine using the quartile method and Pearson’s product moment correlation coefficients may be a better way to find the relationship between AR variation and 2D∶4D.
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性类固醇激素及代谢通路基因多态性与人类指长比的关联性研究;指长比及其波动性不对称与胚胎起源成人疾病的相关性研究
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