GPER基因多态性与注意缺陷多动障碍患儿社会功能的相关性

Association of GPER gene polymorphism with social function of children with attention deficit hyperactivity disorder

目的通过对注意缺陷多动障碍（attention deficit hyperactivity disorder, ADHD）儿童的G蛋白偶联雌激素受体（G protein-coupled estrogen receptor,GPER）基因多态性与其社会功能相关性的研究，寻找影响患儿社会功能的遗传因素。方法应用weiss＇S功能性缺陷程度评定量表对135例ADHD患儿的社会功能进行评价。Sanger法对患儿的GPER基因编码区进行测序，分析其多态性与ADHD儿童的社会功能的相关性。结果男性患儿的学习和学校、冒险活动两项社会功能评分结果明显高于女性患儿，差异有统计学意义（t=2．704，P=0．008；t=2．289，P=0．027）。c．=9T／C和c．789G／A位点的基因型频率在男女性患儿间的差异无统计学意义，但c．=9T／C位点TC基因型的学习和学校项评分明显高于TT基因型，男女性患儿间差异有统计学意义（t=2．159，P=0．033）。结论ADHD患儿GPER基因c．=9T／C位点TC基因型的学习和学校社会功能比TT基因型的受损程度严重，其基因多态性可对患儿该项社会功能产生显著影响。

Objective To assess the association of G protein-coupled estrogen receptor （GPER） gene polymorphism with social function of children with attention deficit hyperactivity disorder （ADHD）. Methods The social function of 135 children with ADHD were assessed by Weiss Functional Impairment Scale-Parent form （WFIRS-P）. The coding region of GPER gene of all patients was subjected to Sanger sequencing. The association of polymorphisms with the social function of the ADHD children was analyzed. Results In the case group, the social function scores of Learning and School and Risky Activities of boys were significantly higher than those of girls （t = 2. 704, P=0. 008; t=2. 289, P=0. 027）. No significant difference was found in the genotypic frequencies of the c. -9T/C and c. 789G/A loci between different genders. But the learning and school scores of those with a TC genotype for the c. -9T〉C locus were significantly higher than those with a TT genotype （t = 2. 159, P = 0. 033）. Conclusion For children with ADHD, the social function of Learning and School of those with a TC genotype of the GPER gene c. -9T/C locus is more severely damaged compared with those with a TT genotype.