Association study of gender identity disorder and sex hormone-related genes

Hiroshi Ujike, Kyohei Otani, Mikiya Nakatsuka, Kazushi Ishii, Aiko Sasaki, Tomoko Oishi, Toshiki Sato, Yuko Okahisa, Yosuke Matsumoto, Yuzaburo Namba, Yoshihiro Kimata, Shigetoshi Kuroda

Research output: Contribution to journalArticlepeer-review

58 Citations (Scopus)


To investigate the biological mechanism of gender identity disorder (GID), five candidate sex hormone-related genes, encoding androgen receptor (AR), estrogen receptors α (ERα) and β (ERβ), 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 ERα, CA repeat numbers in intron 5 of ERβ, 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.

Original languageEnglish
Pages (from-to)1241-1244
Number of pages4
JournalProgress in Neuro-Psychopharmacology and Biological Psychiatry
Issue number7
Publication statusPublished - Oct 1 2009


  • Androgen receptor
  • Estrogen receptor
  • Gender identity disorder
  • Genetic association study
  • Transsexualism

ASJC Scopus subject areas

  • Pharmacology
  • Biological Psychiatry


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