Association of CYP19A1 single-nucleotide polymorphism with digit ratio (2D:4D) in a sample of men and women from Ningxia (China)
Association of CYP19A1 single-nucleotide polymorphism with digit ratio (2D:4D) in a sample of men and women from Ningxia (China)
复制标题
宁夏（中国）男性和女性样本中CYP19A1单核苷酸多态性与手指比例（2D：4D）的关联
DOI：
10.1016/j.earlhumdev.2019.04.004
复制
发表时间：
2019-05-01
影响因子：
2.5
通讯作者：
Huo Zhenghao
中科院分区：
文献类型：
--
作者：
Ma Zhanbing;Dang Jie;Huo Zhenghao
目的：2D：4D是反映出生前宫内性激素暴露水平的人体测量学指标。芳香酶基因(CYP19A1)主要编码细胞色素P450芳香酶，是体内催化雄激素转化为雌激素的关键酶，影响2D：4D的发育。研究CYP19A1的6个单核苷酸多态性(SNPs)与中国正常人群指比之间的关系，将为指比发生的生物学基础提供一定的依据，促进指比的实际应用。方法：采用TaqMan SNP分型方法，对宁夏地区1949名大学生(男692人，女1247人)进行了CYP19A1的6个单核苷酸多态性(rs10046、rs2414095、rs4646、rs4775936、rs749292和rs936306)的检测。结果：中国，在宁夏回族和汉族人群中，CYP19A1基因rs2414095(P<；0.05)、rs10046(P<；0.01)和rs4775936(P<；0.05)等位基因频率及其等位基因频率在回族和汉族人群中存在显著差异，rs2414095基因型频率(P<；0.05)在男性和女性之间存在显著差异。左、右2D：4D和L博士存在性别差异。在男女受试者中，虽然rs4775936的等位基因T的2D：4D比等位基因C的2D：4D低，但CYP19A1基因的6个SNPs与左、右2D：4D无显著关联。在L博士中，我们发现rs4775936与女性L博士相关(t=-2.441，P<0.05)。结论：我们在中国回族和汉族人群中发现了不同的rs10046、rs2414095和rs4775936频率。L博士与rs4775936存在关联。我们讨论了这种关联对L博士和rs4775936与产前性激素的关联以及对乳腺癌易感性的意义。
Objectives: 2D:4D is an anthropometric indicator that may reflect the level of intrauterine sexual hormone exposure before birth. The aromatase gene (CYP19A1) mainly encodes cytochrome P450 aromatase, a key enzyme that catalyzes the conversion of androgens to estrogens in vivo and affects the development of 2D:4D. Studying the association between six single-nucleotide polymorphisms (SNPs) in CYP19A1 and digit ratios in the normal population of China will provide some basis for the biological basis of digit ratio development and promote the practical application of digit ratios.Methods: In this study, six SNPs (rs10046, rs2414095, rs4646, rs4775936, rs749292 and rs936306) in CYP19A1 were tested in 1949 students (692 males and 1247 females) by TaqMan SNP genotyping in Ningxia, China. The digit ratios (right and left 2D:4D and right-left 2D:4D [Dr-l]) of all participants were collected using a photographic record.Results: The frequencies of the genotypes rs2414095 (P < 0.05), rs10046 (P < 0.01) and rs4775936 (P < 0.05) in the CYP19A1 gene and their allele frequencies were significantly different between the Hui and Han populations, and the frequency of the rs2414095 genotype (P < 0.05) was significantly different between males and females in Ningxia, China. There was a sex difference in right and left 2D:4D and in Dr-l. There was no significant association between the six SNPs of the CYP19A1 gene and right and left 2D:4D, although rs4775936 showed a lower 2D:4D ratio in allele T than in allele C, in both male and female subjects. For Dr-l we found that rs4775936 associated with increased Dr-l in females (t(787) = -2.441, P < 0.05).Conclusions: We found the different frequencies of rs10046, rs2414095 and rs4775936 between Hui and Han populations in China. There was an association between rs4775936 and Dr-l We discuss the implications of this association for links between Dr-l and rs4775936 and prenatal sex steroids and for susceptibility to breast cancer.