对性别认同障碍人群中雌激素受体α（ESR1）基因启动子区四个多态性的分析。
Analysis of Four Polymorphisms Located at the Promoter of the Estrogen Receptor Alpha ESR1 Gene in a Population With Gender Incongruence.
作者信息
Fernández Rosa, Delgado-Zayas Enrique, Ramírez Karla, Cortés-Cortés Joselyn, Gómez-Gil Esther, Esteva Isabel, Almaraz Mari Cruz, Guillamon Antonio, Pásaro Eduardo
机构信息
Centro de Investigaciones Científicas Avanzadas (CICA), Departamento de Psicología. Universidade da Coruña (UDC), Campus de Elviña, A Coruña, Spain; Instituto de Investigación Biomédica de A Coruña (INIBIC), CHUAC, SERGAS, A Coruña, Spain.
Centro de Investigaciones Científicas Avanzadas (CICA), Departamento de Psicología. Universidade da Coruña (UDC), Campus de Elviña, A Coruña, Spain; Instituto de Investigación Biomédica de A Coruña (INIBIC), CHUAC, SERGAS, A Coruña, Spain.
出版信息
Sex Med. 2020 Sep;8(3):490-500. doi: 10.1016/j.esxm.2020.04.002. Epub 2020 May 12.
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 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. 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.
引言
性别不一致定义了一种个体感到其出生时被指定的性别与其自身性别之间存在差异的状态。其中一些人会进行社会性别转换，从男性转变为女性（跨性别女性）或从女性转变为男性（跨性别男性）。相比之下，“顺性别”一词描述的是性别认同与出生时被指定的性别一致的人。
目的
分析雌激素受体α基因（ESR1）在性别不一致的遗传基础中的作用。
主要观察指标
单核苷酸多态性rs9478245、rs3138774、rs2234693、rs9340799。
方法
我们对273名跨性别女性、226名跨性别男性和537名顺性别对照者组成的群体，进行了位于ESR1基因启动子区的4个多态性位点（C1 = rs9478245、C2 = rs3138774、C3 = rs2234693和C4 = rs9340799）的分析。对于单核苷酸多态性，通过χ检验分析等位基因和基因型频率。通过二元逻辑回归测量单核苷酸多态性与性别不一致的关联强度。对于短串联重复多态性，通过曼-惠特尼U检验分析重复序列的平均数量。还进行了连锁不平衡和单倍型频率的测量。
结果
跨性别男性群体中C2的重复序列中位数较短。C2多态性的S/S和S/L基因型在跨性别男性组中过度表达（分别为P = 0.012和P = 0.003）。我们还发现跨性别男性群体中A/A基因型（C4）过度传递（P = 0.017），而A/G基因型（C4）表达不足（P = 0.009）。所分析的多态性处于连锁不平衡状态。在跨性别男性群体中，T（C1）-L（C2）-C（C3）-A（C4）单倍型过度表达（P = 0.019），而T（C1）-L（C2）-C（C3）-G（C4）单倍型表达不足（P = 0.005）。
结论
ESR1与跨性别男性群体中的性别不一致有关。费尔南德斯·R、德尔加多-扎亚斯·E、拉米雷斯·K等。性别不一致人群中雌激素受体α基因ESR1启动子区四个多态性的分析。性医学2020；8：490 - 500。
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