Abstract
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- α 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.
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References
American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 4th ed.Washington, DC:American Psychiatric Association; 1994.
Brown GR A review of clinical approaches to gender dysphoria. J Clin Psychiatry. 1990;51:57–64.
Dorner G., Poppe I., Stahl F., Kolzsch J., Uebelhack R. Gene-and environment-dependent neuroendocrine etiogenesis of homosexuality and transsexualism. Exp Clin Endocrinol. 1991;98:141–150.
Zhou JN, Hofman MA, Gooren Ljg, Swaab DF A sex difference in the human brain and its relation to transsexuality. Nature. 1995;378:68–70.
Labrie F., Sugimoto Y., Luu-The V., et al. Structure of human type II 5 alpha-reductase gene. Endocrinology. 1992;131: 1571–1573.
Yang C., Hamajima N., Iwata H., et al. A49T, V89L and TA repeat polymorphisms of steroid 5-alpha-reductase type II and breast cancer risk in Japanese women. Breast Cancer Res. 2002;4(4):R8.
van Gils CH, Onland-Moret NC, Roest M., van Noord PA, Peeters PH The V89L polymorphism in the 5-alpha-reductase type 2 gene and risk of breast cancer. Cancer Epidemiol Biomarkers Prev. 2003;12:1194–1199.
Nam RK, Toi A., Vesprini D., et al. V89L polymorphism of type-2, 5-alpha reductase enzyme gene predicts prostate cancer presence and progression. Urology. 2001;75:199–204.
Lunn RM, Bell DA, Mohler JL, Taylor JA Prostate cancer risk and polymorphism in 17 hydroxylase (CYP17) and steroid reductase (SRD5A2). Carcinogenesis. 1999;20:1727–1731.
Tempfer CB, Riener E., Hefler LA, Huber JC, Muendlein A. DNA microarray-based analysis of single nucleotide polymorphisms may be useful for assessing the risks and benefits of hormone therapy. Fertil Steril. 2004;82:132–137.
Huber M., Mundlein A., Dornstauder E., et al. Accessing single nucleotide polymorphisms in genomic DNA by direct multiplex polymerase chain reaction amplification on oligonucleotide microarrays. Ann Biochem. 2002;303:25–33.
Cohen-Kettenis PT, Gooren Ljg. Transsexualism: a review of etiology, diagnosis, and treatment. J Psychosom Res. 1999;46: 315–333.
Landen M., Walinder J., Lundstrom B. Prevalence, incidence and sex ratio of transsexualism. Acta Psychiatr. 1996;93:221–223.
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Bentz, EK., Schneeberger, C., Hefler, L.A. et al. A Common Polymorphism of the SRD5A2 Gene and Transsexualism. Reprod. Sci. 14, 705–709 (2007). https://doi.org/10.1177/1933719107306230
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DOI: https://doi.org/10.1177/1933719107306230