首页|期刊导航|北京大学学报（医学版）|中国人群叶酸/同型半胱氨酸代谢基因多态性与非综合征型唇腭裂关联研究

中国人群叶酸/同型半胱氨酸代谢基因多态性与非综合征型唇腭裂关联研究

王苹王红吴雅慧叶晓茜黄尚志石冰梁赓义曹卫华吴涛

北京大学学报（医学版）2013，Vol.45Issue(3)：352-358,7.

北京大学学报（医学版）2013，Vol.45Issue(3)：352-358,7.DOI:10.3969/j.issn.1671-167X.2013.03.004

中国人群叶酸/同型半胱氨酸代谢基因多态性与非综合征型唇腭裂关联研究

Association study for gene polymorphism of folic acid/homocysteine metabolic pathway and nonsyndromic cleft lip with or without cleft palate in Chinese populations

王苹 ¹王红 ¹吴雅慧 ²叶晓茜 ³黄尚志 ⁴石冰 ⁵梁赓义 ⁶曹卫华 ⁷吴涛¹

作者信息

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. 中国台湾长庚医院医学研究部,桃园33305
3. 武汉大学口腔医院儿童口腔科,武汉430079
4. Mount Sinai Medical Center,New York 10029,USA
5. 中国医学科学院,北京协和医学院基础医学院医学遗传学系,北京100005
6. 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
7. Johns Hopkins University,School of Public Health,Baltimore,Maryland 21205,USA
折叠

摘要

Abstract

Objective:To explore the association between 18 candidate genes encoding enzymes on the folate/homocysteine metabolism pathway and non-syndromic cleft lip with or without cleft palate (NSCL/P) in Chinese populations.Methods:A total of 806 NSCL/P trios were drawn by an international consortium,which conducted a genome-wide association study using a case-parent trio design to investigate genes affecting risks to NSCL/P.The transmission disequilibrium test (TDT) was used for deviation from Mendelian expectations for 257 SNPs in 18 folate/homocysteine metabolism-related genes.The interactions between markers in these gene and environmental risk factors were also tested using conditional Logistic regressions.Results:Although four SNPs (rs6428977,rs12060264,rs7730643 and rs4920037) showed nominal significant association with NSCL/P in the TDT on 806 NSCL/P trios (P ＜0.05),no significant evidence of linkage and association remained in all the SNPs after Bonferroni correction.Similar tests for 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:Folate/homocysteine metabolism-related genes could not influence the risk of NSCL/P.

关键词

基因关联研究/叶酸/唇裂/多态性,单核苷酸/高半胱氨酸

Key words

Genetic association studies/ Folic acid / Cleft lip / Polymorphism, single nucleotide / Homocysteine

分类

医药卫生

引用本文复制引用

王苹,王红,吴雅慧,叶晓茜,黄尚志,石冰,梁赓义,曹卫华,吴涛..中国人群叶酸/同型半胱氨酸代谢基因多态性与非综合征型唇腭裂关联研究[J].北京大学学报（医学版）,2013,45(3):352-358,7.

基金项目

国家自然科学基金(81102178)、国际遗传学研究培训合作项目(NIH D43 TW06176)、国际口腔颌面部研究学会基金(U01-DE-018993)及唇腭裂危险基因和交互作用的国际合作研究项目(R01-DE-014458)资助Supported by the National Natural Science Foundation of China (81102178),International Collaborative Genetics Research Training Program (NIH D43 TW06176).the National Institute for Dental and Craniofacial Research(U01-DE-018993) and International Consortium to Identify Genes & Interactions Controlling Oral Clefts (R01-DE-014458) （81102178）

北京大学学报（医学版）

OA北大核心CSCDCSTPCD

ISSN：1671-167X

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