This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via ISI Web of Science (1) Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Bentz, E.-K. Articles by Tempfer, C. B. Search for Related Content PubMed PubMed Citation Articles by Bentz, E.-K. Articles by Schneeberger, C. Articles by Hefler, L. A. Articles by van Trotsenburg, M. Articles by Kaufmann, U. Articles by Huber, J. C. Articles by Tempfer, C. B. Pubmed/NCBI databases Gene GEO Profiles HomoloGene UniGene Genetics Home Reference Social Bookmarking                   What's this?

A Common Polymorphism of the SRD5A2 Gene and Transsexualism

Department of Gynecologic Endocrinology and Reproductive Medicine Medical University Vienna, Vienna, Austria

Christian Schneeberger, PhD

Department of Gynecologic Endocrinology and Reproductive Medicine Medical University Vienna, Vienna, Austria

Lukas A. Hefler, MD

Department of Obstetrics and Gynecology , Medical University Vienna, Vienna, Austria

Mick van Trotsenburg, MD

Department of Obstetrics and Gynecology, Free University in Amsterdam, Amsterdam, Netherlands

Ulrike Kaufmann, MD

Department of Gynecologic Endocrinology and Reproductive Medicine Medical University Vienna, Vienna, Austria

Johannes C. Huber, MD, PhD

Department of Gynecologic Endocrinology and Reproductive Medicine Medical University Vienna, Vienna, Austria

Clemens B. Tempfer, MD

Department of Gynecologic Endocrinology and Reproductive Medicine Medical University Vienna, Vienna, Austria, clemens.tempfer{at}meduniwien.ac.at

The relation between genetic variation of the androgen metabolism and transsexualism is unknown. In a case-control study of 100 male-to-female (MtF) transsexuals, 47 female-to-male (FtM) transsexuals, and 1670 controls, the authors assess allele and genotype frequencies of the steroid 5- reductase (SRD5A2) Val89Leu polymorphism using polymerase chain reaction. Allele and genotype frequencies are not significantly di ferent between MtF transsexuals and male controls (SRD5A2 V: 137/200 [69%] and SRD5A2 L: 63/200 [31%] vs 1065/1510 [71%] and 445/1510 [29%], respectively; P = .6; odds ratio [OR], 1.10; 95% confidence interval [CI], 0.76-1.58; SRD5A2 V/V+V/L: 92/100 [92%] and L/L 8/100 [8%] vs SRD5A2 683/755 [91%] and 72/755 [9%], respectively, P = .7; OR, 0.82; 95% CI, 0.24-2.84). Allele and genotype frequencies are also not significantly di ferent between FtM transsexuals and female controls (SRD5A2 V: 70/94 [74%] and SRD5A2 L: 24/94 [26%] vs 1253/1830 [69%] and 573/1830 [31%], respectively; P = .3; OR, 0.75; 95% CI, 0.45-1.26; SRD5A2 V/V+V/L: 44/47 [93%] and L/L 3/47 [7%] vs 823/915 [90%] and 92/915 [10%], respectively, P = .6; OR, 0.61; 95% CI, 0.11-3.32). Of note, there is no gender-specific genotype distribution among controls. The SRD5A2 Val89Leu SNP is not associated with transsexualism, refuting SRD5A2 as a candidate gene of transsexualism.

Key Words: Transsexualism • gender ,sex steroids • polymorphism • SRD5A2 • steroid 5- reductase.

Reproductive Sciences, Vol. 14, No. 7, 705-709 (2007)
DOI: 10.1177/1933719107306230


CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?