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作 者:王竹青[1] 王苹[2] 吴雅慧 叶晓茜[4,5] 黄尚志[6] 石冰[7] 王科[8] 袁园[1] 刘冬静[1] 吴涛[1] 王红[1] Terri H.Beaty
机构地区:[1]北京大学公共卫生学院流行病与卫生统计学系,北京100191 [2]北京市疾病预防控制中心,北京100013 [3]林口长庚纪念医院医学研究部,中国台湾桃园市33305 [4]武汉大学口腔医院儿童口腔科,武汉430079 [5]Mount Sinai Medical Center,New York 10029,USA [6]中国医学科学院,北京协和医学院基础学院医学遗传学系,北京100005 [7]四川大学华西口腔医学院口腔颌面外科,口腔疾病研究国家重点实验室,成都610041 [8]青岛大学医学院口腔外科,青岛266000 [9]Johns Hopkins University,School of Public Health,Baltimore,Maryland 21205,USA
出 处:《北京大学学报(医学版)》2015年第3期384-389,共6页Journal of Peking University:Health Sciences
基 金:国家自然科学基金(81102178)资助~~
摘 要:目的:探索中国人群中转化生长因子β(transforming growth factor-β,TGFB)信号通路基因多态性与非综合征型唇腭裂(non-syndromic oral clefts,NSOC)的关联关系及可能存在的基因环境交互作用。方法:在806个中国汉族人群非综合征型唇裂合并或不合并腭裂(non-syndromic cleft lip with or without cleft palate,NSCL/P)核心家系中,对TGFB信号通路上的10个基因进行了传递不平衡检验以及基因环境交互作用分析。环境因素包括母亲孕早期吸烟、被动吸烟、饮酒及补充多维生素制剂。结果:经过质量控制的筛选,共对343个位点的单核苷酸多态性(single nucleotide polymorphisms,SNPs)进行了传递不平衡检验及交互作用分析,结果显示,共有6个基因中的19个SNPs与NSCL/P之间存在关联(P<0.05),但经过Bonferroni校正后,这些关联均不具有统计学意义。经多重检验校正后,未发现常见孕期环境暴露因素与TGFB信号通路上的基因多态性存在有统计学意义的基因环境交互作用。结论:未发现TGFB信号通路上的基因多态性与NSCL/P之间存在关联。Objective:To explore the association between 10 candidate genes on transforming growth fac-tor-β ( TGFB) signaling pathway and non-syndromic cleft lip with or without cleft palate ( NSCL/P) among Chinese populations, and to study the gene-environment interaction. Methods:A total of 806 Chinese Han NSCL/P trios were ascertained from an international consortium, which conducted a genome-wide associa-tion study using a case-parent trio design to investigate the genes affecting risk to NSCL/P. The transmis-sion disequilibrium test ( TDT) was used to test for effects of 343 single nucleotide polymorphisms ( SNPs) in 10 genes on TGFB signaling pathway including DCN, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, BAMBI, SMAD2, SMAD3 and SMAD4. The conditional regression models were used to test for gene-envi-ronment interaction. Results: For TDT, although 19 SNPs showed nominal significant association with&amp;nbsp;NSCL/P, no significant evidence of association was seen for all SNPs in 806 NSCL/P trios after Bonferroni correction. The interactions between genes and maternal smoking, environmental tobacco smoke, alcohol consumption and multi-vitamin supplementation during pregnancy did not attain statistical significance after correction for multiple comparisons. Conclusion:No evidence for SNP effect of genes on TGFB signaling pathway and significant gene-environment interaction was seen in our data.
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