RT Journal Article
T1 Analysis of Four Polymorphisms Located at the Promoter of the Estrogen Receptor Alpha ESR1 Gene in a Population With Gender Incongruence.
A1 Fernandez, Rosa
A1 Delgado-Zayas, Enrique
A1 Ramirez, Karla
A1 Cortes-Cortes, Joselyn
A1 Gomez-Gil, Esther
A1 Esteva, Isabel
A1 Almaraz, Mari Cruz
A1 Guillamon, Antonio
A1 Pasaro, Eduardo
K1 Gender incongruence
K1 rs2234693
K1 rs3138774
K1 rs9340799
K1 rs9478245
K1 Transgender
AB 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. To analyze the implication of the estrogen receptor α gene (ESR1) in the genetic basis of gender incongruence. Polymorphisms rs9478245, rs3138774, rs2234693, rs9340799. 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 χ2 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. 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). The ESR1 is associated with gender incongruence in the trans men population. Fernández R, Delgado-Zayas E,RamírezK, et al. Analysis of Four Polymorphisms Located at the Promoter of the Estrogen Receptor Alpha ESR1 Gene in a Population With Gender Incongruence. Sex Med 2020;8:490-500.
PB Oxford University Press
SN 2050-1161
YR 2020
FD 2020-04-05
LK http://hdl.handle.net/10668/15571
UL http://hdl.handle.net/10668/15571
LA en
NO Fernández R, Delgado-Zayas E, Ramírez K, Cortés-Cortés J, Gómez-Gil E, Esteva I, et al. Analysis of Four Polymorphisms Located at the Promoter of the Estrogen Receptor Alpha ESR1 Gene in a Population With Gender Incongruence. Sex Med. 2020 Sep;8(3):490-500
NO This work was supported by grants: ED431B 019/02 (EP), PGC2018-094919-B-C21 (AG), PGC2018-094919-BC22 (RF), and FPU 15/02558 (JCC).
DS RISalud
RD Apr 7, 2025