The journal of sexual medicine · 2015
The CYP17 MspA1 Polymorphism and the Gender Dysphoria.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Fernández Rosa, Cortés-Cortés Joselyn, Esteva Isabel, Gómez-Gil Esther, Almaraz Mari Cruz, Lema Estefanía, Rumbo Teresa, Haro-Mora Juan-Jesús, Roda Ester, Guillamón Antonio, Pásaro Eduardo
Аннотация
INTRODUCTION: The A2 allele of the CYP17 MspA1 polymorphism has been linked to higher levels of serum testosterone, progesterone, and estradiol.
AIM: To determine whether the CYP17 MspA1 polymorphism is associated with transsexualism.
METHODS: We analyzed 151 male-to-female (MtF), 142 female-to-male (FtM), 167 control male, and 168 control female individuals. Fragments that included the mutation were amplified by PCR and digested with MspA1. Our data were compared with the allele/genotype frequencies provided by the 1000 Genomes Data Base, and contrasted with a MEDLINE search of the CYP17 MspA1 polymorphism in the literature.
MAIN OUTCOME MEASURES: We investigated the association between transsexualism and the CYP17 MspA1 polymorphism.
RESULTS: A2 frequency was higher in the FtM (0.45) than the female control (0.38) and male control (0.39) groups, or the MtF group (0.36). This FtM > MtF pattern reached statistical significance (P = 0.041), although allele frequencies were not gender specific in the general population (P = 0.887). This observation concurred with the 1000 Genomes Data Base and the MEDLINE search.
CONCLUSION: Our data confirm a sex-dependent allele distribution of the CYP17 MspA1 polymorphism in the transsexual population, FtM > MtF, suggestive of a hypothetical A2 involvement in transsexualism since the allele frequencies in the general population seem to be clearly related to geographic origin and ethnic background, but not sex.
AIM: To determine whether the CYP17 MspA1 polymorphism is associated with transsexualism.
METHODS: We analyzed 151 male-to-female (MtF), 142 female-to-male (FtM), 167 control male, and 168 control female individuals. Fragments that included the mutation were amplified by PCR and digested with MspA1. Our data were compared with the allele/genotype frequencies provided by the 1000 Genomes Data Base, and contrasted with a MEDLINE search of the CYP17 MspA1 polymorphism in the literature.
MAIN OUTCOME MEASURES: We investigated the association between transsexualism and the CYP17 MspA1 polymorphism.
RESULTS: A2 frequency was higher in the FtM (0.45) than the female control (0.38) and male control (0.39) groups, or the MtF group (0.36). This FtM > MtF pattern reached statistical significance (P = 0.041), although allele frequencies were not gender specific in the general population (P = 0.887). This observation concurred with the 1000 Genomes Data Base and the MEDLINE search.
CONCLUSION: Our data confirm a sex-dependent allele distribution of the CYP17 MspA1 polymorphism in the transsexual population, FtM > MtF, suggestive of a hypothetical A2 involvement in transsexualism since the allele frequencies in the general population seem to be clearly related to geographic origin and ethnic background, but not sex.