Ujike Hiroshi, Otani Kyohei, Nakatsuka Mikiya, Ishii Kazushi, Sasaki Aiko, Oishi Tomoko, Sato Toshiki, Okahisa Yuko, Matsumoto Yosuke, Namba Yuzaburo, Kimata Yoshihiro, Kuroda Shigetoshi
Department of Neuropsychiatry, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
Prog Neuropsychopharmacol Biol Psychiatry. 2009 Oct 1;33(7):1241-4. doi: 10.1016/j.pnpbp.2009.07.008. Epub 2009 Jul 13.
To investigate the biological mechanism of gender identity disorder (GID), five candidate sex hormone-related genes, encoding androgen receptor (AR), estrogen receptors alpha (ERalpha) and beta (ERbeta), aromatase (CYP19), and progesterone receptor (PGR) were analyzed by a case-control association study. Subjects were 242 transsexuals (74 male-to-female patients (MTF) and 168 female-to-male patients (FTM)), and 275 healthy age- and geographical origin-matched controls (106 males and 169 females). The distributions of CAG repeat numbers in exon 1 of AR, TA repeat numbers in the promoter region of ERalpha, CA repeat numbers in intron 5 of ERbeta, TTTA repeat numbers in intron 4 of CYP19, and six polymorphisms (rs2008112, rs508653, V660L, H770H, rs572698 and PROGINS) of PGR were analyzed. No significant difference in allelic or genotypic distribution of any gene examined was found between MTFs and control males or between FTMs and control females. The present findings do not provide any evidence that genetic variants of sex hormone-related genes confer individual susceptibility to MTF or FTM transsexualism.
为了研究性别认同障碍（GID）的生物学机制，通过病例对照关联研究分析了五个与性激素相关的候选基因，它们分别编码雄激素受体（AR）、雌激素受体α（ERα）和β（ERβ）、芳香化酶（CYP19）以及孕激素受体（PGR）。研究对象为242名变性者（74名男性变女性患者（MTF）和168名女性变男性患者（FTM）），以及275名年龄和地理来源匹配的健康对照者（106名男性和169名女性）。分析了AR基因外显子1中CAG重复序列的数量、ERα启动子区域TA重复序列的数量、ERβ内含子5中CA重复序列的数量、CYP19内含子4中TTTA重复序列的数量，以及PGR的六个多态性位点（rs2008112、rs508653、V660L、H770H、rs572698和PROGINS）。在MTF与男性对照者之间或FTM与女性对照者之间，未发现所检测的任何基因在等位基因或基因型分布上存在显著差异。目前的研究结果并未提供任何证据表明性激素相关基因的遗传变异会使个体易患MTF或FTM变性症。
