北京大学学报（医学版）
北京大學學報（醫學版）
북경대학학보（의학판）
JOURNAL OF BEIJING MEDICAL UNIVERSITY(HEALTH SCIENCES)
2015年
3期
384-389
,共6页
王竹青%王苹%吴雅慧%叶晓茜%黄尚志%石冰%王科%袁园%刘冬静%吴涛%王红%TerriH. Beaty
王竹青%王蘋%吳雅慧%葉曉茜%黃尚誌%石冰%王科%袁園%劉鼕靜%吳濤%王紅%TerriH. Beaty
왕죽청%왕평%오아혜%협효천%황상지%석빙%왕과%원완%류동정%오도%왕홍%TerriH. Beaty
转化生长因子β%信号传导%遗传关联研究%唇裂%腭裂
轉化生長因子β%信號傳導%遺傳關聯研究%脣裂%腭裂
전화생장인자β%신호전도%유전관련연구%진렬%악렬
Transforming growth factor beta%Signal transduction%Genetic association studies%Cleft lip%Cleft palate
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。
目的：：探索中國人群中轉化生長因子β( transforming growth factor-β, TGFB)信號通路基因多態性與非綜閤徵型脣腭裂( non-syndromic oral clefts, NSOC)的關聯關繫及可能存在的基因環境交互作用。方法：在806箇中國漢族人群非綜閤徵型脣裂閤併或不閤併腭裂( non-syndromic cleft lip with or without cleft palate, NSCL/P)覈心傢繫中,對TGFB信號通路上的10箇基因進行瞭傳遞不平衡檢驗以及基因環境交互作用分析。環境因素包括母親孕早期吸煙、被動吸煙、飲酒及補充多維生素製劑。結果：經過質量控製的篩選,共對343箇位點的單覈苷痠多態性( single nucleotide polymorphisms, SNPs)進行瞭傳遞不平衡檢驗及交互作用分析,結果顯示,共有6箇基因中的19箇SNPs與NSCL/P之間存在關聯(P<0.05),但經過Bonferroni校正後,這些關聯均不具有統計學意義。經多重檢驗校正後,未髮現常見孕期環境暴露因素與TGFB信號通路上的基因多態性存在有統計學意義的基因環境交互作用。結論：未髮現TGFB信號通路上的基因多態性與NSCL/P之間存在關聯。
목적：：탐색중국인군중전화생장인자β( transforming growth factor-β, TGFB)신호통로기인다태성여비종합정형진악렬( non-syndromic oral clefts, NSOC)적관련관계급가능존재적기인배경교호작용。방법：재806개중국한족인군비종합정형진렬합병혹불합병악렬( non-syndromic cleft lip with or without cleft palate, NSCL/P)핵심가계중,대TGFB신호통로상적10개기인진행료전체불평형검험이급기인배경교호작용분석。배경인소포괄모친잉조기흡연、피동흡연、음주급보충다유생소제제。결과：경과질량공제적사선,공대343개위점적단핵감산다태성( single nucleotide polymorphisms, SNPs)진행료전체불평형검험급교호작용분석,결과현시,공유6개기인중적19개SNPs여NSCL/P지간존재관련(P<0.05),단경과Bonferroni교정후,저사관련균불구유통계학의의。경다중검험교정후,미발현상견잉기배경폭로인소여TGFB신호통로상적기인다태성존재유통계학의의적기인배경교호작용。결론：미발현TGFB신호통로상적기인다태성여NSCL/P지간존재관련。
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 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.
