Nishimura Yoko, Moriya Kimihiko, Kobayashi Sumitaka, Araki Atsuko, Sata Fumihiro, Mitsui Takahiko, Itoh Sachiko, Miyashita Chihiro, Cho Kazutoshi, Kon Masafumi, Nakamura Michiko, Kitta Takeya, Murai Sachiyo, Kishi Reiko, Shinohara Nobuo
Department of Renal and Genitourinary Surgery, Hokkaido University Graduate School of Medicine, North-15, West-7, Kita-ku, Sapporo 060-8638, Japan; Center for Environmental and Health Sciences, Hokkaido University, North-12, West-7, Kita-ku, Sapporo 060-0812, Japan.
Department of Renal and Genitourinary Surgery, Hokkaido University Graduate School of Medicine, North-15, West-7, Kita-ku, Sapporo 060-8638, Japan.
Steroids. 2019 Jan;141:55-62. doi: 10.1016/j.steroids.2018.11.011. Epub 2018 Nov 22.
The ratio of the lengths of the 2nd and 4th digits (2D:4D) is considered an index of prenatal exposure to androgen. Indeed, androgen receptors have been linked to digit length, but estrogen receptors are rarely investigated in this context. Thus, we investigated the association between estrogen receptor 1 (ESR1) genetic polymorphisms and 2D:4D in school-aged children. The 2D:4D ratios were determined using Vernier calipers from photocopies of palms provided by 1800 children aged 7 years who were enrolled in an ongoing prospective cohort study in Hokkaido, Japan. The children were genotyped using cord blood collected at birth for single nucleotide polymorphisms in ESR1, specifically PvuII (T > C, dbSNP: rs2234693), XbaI (A > G, dbSNP: rs9340799), and rs2077647 (A > G). The association between ESR1 polymorphisms and 2D:4D was assessed by multiple linear regression adjusted for potential cofounding factors. Boys with the GG genotype at rs9340799 had a significantly lower 2D:4D in the right hand than boys with the AA/AG genotype (-0.96% lower, 95% confidence interval: -1.68 to -0.24). However, this association was detected only in boys born to non-smoking mothers. No significant differences were found between rs9340799 polymorphisms and 2D:4D among girls. There was also no link between 2D:4D and polymorphisms at rs2234693 and rs2077647. These data suggest that rs9340799 polymorphisms in ESR1 may contribute to digit length and 2D:4D.
第二和第四指长度之比（2D:4D）被视为产前雄激素暴露的一个指标。的确，雄激素受体与手指长度有关，但在这种情况下雌激素受体很少被研究。因此，我们调查了学龄儿童雌激素受体1（ESR1）基因多态性与2D:4D之间的关联。使用游标卡尺从日本北海道一项正在进行的前瞻性队列研究中招募的1800名7岁儿童提供的手掌复印件上测定2D:4D比值。利用出生时采集的脐带血对儿童进行ESR1单核苷酸多态性基因分型，具体为PvuII（T>C，dbSNP: rs2234693）、XbaI（A>G，dbSNP: rs9340799）和rs2077647（A>G）。通过对潜在混杂因素进行调整的多元线性回归评估ESR1多态性与2D:4D之间的关联。rs9340799位点GG基因型的男孩右手2D:4D明显低于AA/AG基因型的男孩（低0.96%，95%置信区间：-1.68至-0.24）。然而，这种关联仅在非吸烟母亲所生的男孩中被检测到。女孩中rs9340799多态性与2D:4D之间未发现显著差异。rs2234693和rs2077647位点的多态性与2D:4D之间也没有关联。这些数据表明ESR1基因中的rs9340799多态性可能影响手指长度和2D:4D。
