PDE8B基因多态性与中国汉族人群高促甲状腺素血症易感性的关联分析  

Association analysis of PDE8B gene polymorphisms with the susceptibility to hyperthyrotropinaemia in Chinese HaM population

作　　者：占明[1] 赵双霞[1] 顾朝辉[1] 郭翠翠[1] 宋志毅[1] 宋怀东[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院医学基因组学国家重点实验室,200025

出　　处：《中华医学杂志》2012年第12期801-805,共5页National Medical Journal of China

基　　金：国家自然科学基金（30971595）

摘　　要：目的研究磷酸二酯酶8B（PDE8B）基因多态性与中国汉族人群高促甲状腺素（TSH）血症的相关性。方法采用病例．对照的研究方法，用Illumina 660全基因组芯片对98例正常范围高血清TSH者（H—TSH组）及1300名健康对照者（对照组）657366个单核苷酸多态性（SNP）位点进行基因分型，并分析PDE8B基因内含子1中25个SNP位点与高TSH血症的相关性。结果在PDE8B基因内含子1中，H-TSH组5个SNP位点rs7702192_A、rs7714529_G、rs251421_T、rs12514694_A及rs10066802_G等位基因频率均显著高于对照组（49．5％比40．9％，P=0．019；91．3％比84．9％，P=0．014；90．3％比84．9％，P=0．039；37．2％比28．3％，P=0．008；50．0％比40．1％，P=0．006）。与对照组相比，H—TSH组rs7714529（X2=6．430，P：0．040）、rs12514694（Х^2=7．191，P=0．027）及rs10066802（Х^2=9．213，P=0．010）基因型分布差异均有统计学意义。5个SNP位点的单倍型AGTAG（rs7702192／rs7714529／rs251421／rs12514694／rs10066802）在H—TSH组中的分布频率显著性高于对照组（Х^2=8．41，P=0．004）。结论PDE8B基因多态性可能与中国汉族人群的高TSH血症相关，也许能为甲状腺疾病的治疗提供新的思路。Objective To explore the correlations of the polymorphisms of phosphodiesterase 8B （PDE8B） gene with hyperthyrotropinemia in Chinese HaM population. Methods A case-control study of genotype 657 366 SNPs was performed by Illumina Human660-Quad BeadChips in 98 hyperthyrotropinemia patients and 1300 controls. And 25 SNPs within PDE8B gene intron 1 were used for association analyses. Results Allele frequencies of 5 SNPS in PDESB gene intron 1 showed significant differences between the case and control groups （P 〈 0. 05 ）. In comparison with the control group, the genotypic distributions of rs7714529 （X^2 =6.430, P=0.040）, rs12514694 （X^2 =7.191, P=0.027） and rs10066802 （X^2 = 9. 213, P = 0. 010 ） in H-TSH group had significant differences. Haplotype AGTAG （rs7702192/ rs7714529/rs251421/rs12514694/rs10066802） was over-represented in hyperthyrotropinemia cases versus the control group. Conclusion PDE8B gene polymorphisms may be correlated with hyperthyrotropinaemia in Chinese Hart population. And it may provide new concepts for the treatment of thyroid dysfunction.

关 键 词：高甲状腺素血症 磷酸二酯酶8B 多态性 单核苷酸 单元型 

分 类 号：R817.4[医药卫生—影像医学与核医学]