Analysis of Four Polymorphisms Located at the Promoter of the Estrogen Receptor Alpha ESR1 Gene in a Population With Gender Incongruence. Issue 3 (11th May 2020)

• Record Type: Journal Article
• Authors: Fernández, Rosa; Delgado-Zayas, Enrique; Ramírez, Karla; Cortés-Cortés, Joselyn; Gómez-Gil, Esther; Esteva, Isabel; Almaraz, Mari Cruz; Guillamon, Antonio; Pásaro, Eduardo
• Is Part Of: Sexual medicine. Volume 8:Issue 3(2020)
• Page Start: 490
• Page End: 500
• Publication Date: 2020-05-11
• Subjects: Gender incongruence -- transgender -- rs9478245 -- rs3138774 -- rs2234693 -- rs9340799; Sexual disorders -- Periodicals; Sexual health -- Periodicals; 616.69005
• DOI: 10.1016/j.esxm.2020.04.002
• Languages: English
• ISSNs: 2050-1161

Abstract

Abstract: Introduction: Gender incongruence defines a state in which individuals feel discrepancy between the sex assigned at birth and their gender. Some of these people make a social transition from male to female (trans women) or from female to male (trans men). By contrast, the word cisgender describes a person whose gender identity is consistent with their sex assigned at birth. Aim: To analyze the implication of the estrogen receptor α gene ( ESR1 ) in the genetic basis of gender incongruence. Main Outcome Measures: Polymorphisms rs9478245, rs3138774, rs2234693, rs9340799. Method: We carried out the analysis of 4 polymorphisms located at the promoter of the ESR1 gene (C1 = rs9478245, C2 = rs3138774, C3 = rs2234693, and C4 = rs9340799) in a population of 273 trans women, 226 trans men, and 537 cis gender controls. For SNP polymorphisms, the allele and genotype frequencies were analyzed by χ 2 test. The strength of the SNP associations with gender incongruence was measured by binary logistic regression. For the STR polymorphism, the mean number of repeats were analyzed by the Mann–Whitney U test. Measurement of linkage disequilibrium and haplotype frequencies were also performed. Results: The C2 median repeats were shorter in the trans men population. Genotypes S/S and S/L for the C2 polymorphism were overrepresented in the trans men group ( P = .012 and P = .003 respectively). We also found overtransmission of the A/A genotype (C4) in the trans men population ( P = .017), while the A/G genotype (C4) was subrepresented ( P = .009]. The analyzed polymorphisms were in linkage disequilibrium. In the trans men population, the T(C1)-L(C2)-C(C3)-A(C4) haplotype was overrepresented ( P = .019) while the T(C1)-L(C2)-C(C3)-G(C4) was subrepresented ( P = .005). Conclusion: The ESR1 is associated with gender incongruence in the trans men population.