IGF2BP2基因多态性与中国北方汉族人群精神分裂症发病的遗传学关联研究
ssociation studies on IGF2BP2 gene polymorphisms and schizophrenia in Chinese Han population
目的 探讨IGF2BP2基因多态性与中国北方汉族人群精神分裂症发病的关系。方法:采用群体遗传学研究策略,以790例中国北方汉族精神分裂症患者和1083例健康对照个体为研究对象,采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)的方法,检测IGF2BP2基因rs4402960位点基因型。结果:拟合优度χ2检验分析显示rs4402960基因型频数分布在精神分裂症病例组和对照组均符合Hardy-Weinberg平衡定律(P>0.05)。χ2检验显示rs4402960位点的等位基因和基因型频率分布在病例组和对照组中差异显著(χ2=7.056,P=0.008;χ2=7.316,P=0.026),精神分裂症病例组中携带T等位基因(T/T或T/G)基因型频率显著高于对照组(χ2=4.972, P=0.026)。性别分析发现这种遗传学关联存在着性别差异,rs4402960 位点的等位基因和基因型频率在男性精神分裂症患者与男性健康对照间差异显著(χ2=8.102,P=0.004;χ2=8.392,P=0.015),而女性精神分裂症患者与健康对照间无显著差异(P>0.05)。临床表型分析发现,rs4402960 位点与关系妄想相关联,而与其他阳性、阴性表型无关联。结论:IGF2BP2基因多态性可能与中国北方汉族人群精神分裂症发病相关联,携带T等位基因可增加精神分裂症发病风险。
Objective To elucidate the genetic association between the IGF2BP2 gene polymorphisms and schizophrenia in a Chinese Han population in the north of China. Methods Genomic DNA was isolated from the whole blood samples. A single nucleotide polymorphism, rs4402960 (Dra I site) present in the IGF2BP2 gene, was detected using PCR-based restriction fragment length polymorphism analysis among 790 patients with schizophrenia and 1083 ethnicity-matched healthy controls. The Hardy-Weinberg equilibrium for genotypic distribution of rs4402960 was estimated by the goodness-of-fit χ2 test, allelic and genotypic association of the IGF2BP2 gene with the disease and the relationship between allelic frequencies and the clinical phenotypes of schizophrenia were statistically computed. Results The goodness- of-fit χ2 test showed that the genotypic distributions of rs4402960 did not deviate from Hardy-Weinberg equilibrium in both the patient group and the control group(P>0.05). The χ2 test showed allelic associations for rs4402960(χ2=7.056,P=0.008,OR=1.221,95%CI 1.013-1.476); the frequencies of genotypes with rs4402960 T allele were significantly higher in the patient group than in the control group (χ2=4.972,P=0.026). The gender differences in rs4402960 association were observed and the IGF2BP2 gene was more likely to be associated with male patients (χ2=8.102,P=0.004 for allelic association;χ2=8.392,P=0.015 for genotypic association) than female patients (P>0.05). There were no correlations between allelic or genotypic frequencies and the clinical phenotypes of schizophrenia(P>0.05). Conclusion The IGF2BP2 locus may be associated with schizophrenia in the Chinese population.
张萱、王嘉欣、恵李、徐阳春、刘扬、王珍琦、油洋
神经病学、精神病学
精神病学精神分裂症/遗传学IGF2BP2rs4402960
Psychiatryschizophrenia /geneticsIGF2BP2rs4402960
张萱,王嘉欣,恵李,徐阳春,刘扬,王珍琦,油洋.IGF2BP2基因多态性与中国北方汉族人群精神分裂症发病的遗传学关联研究[EB/OL].(2016-05-18)[2025-08-23].http://www.paper.edu.cn/releasepaper/content/201605-598.点此复制
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