The CYP17 MspA1 Polymorphism and the Gender Dysphoria
| Autor: | Rosa Fernández, Joselyn Cortés-Cortés, Isabel Esteva, Esther Gómez-Gil, Mari Cruz Almaraz, Estefanía Lema, Teresa Rumbo, Juan-Jesús Haro-Mora, Ester Roda, Antonio Guillamón, Eduardo Pásaro |
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| Rok vydání: | 2015 |
| Předmět: |
Male
Gender dysphoria Genotype Urology Endocrinology Diabetes and Metabolism Population Biology Polymerase Chain Reaction Endocrinology Gene Frequency Polymorphism (computer science) Statistical significance medicine Humans Allele 1000 Genomes Project education Allele frequency Alleles Genetics education.field_of_study Polymorphism Genetic Steroid 17-alpha-Hydroxylase Hispanic or Latino Middle Aged medicine.disease Genotype frequency Psychiatry and Mental health Reproductive Medicine Female Transsexualism |
| Zdroj: | The Journal of Sexual Medicine. 12:1329-1333 |
| ISSN: | 1743-6109 1743-6095 |
| DOI: | 10.1111/jsm.12895 |
| Popis: | Summary 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. |
| Databáze: | OpenAIRE |
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