Single nucleotide polymorphisms of the maternal gene and their association with fetal neural tube defects in Han ethnic group in Shanxi Province, China  

作　　者：GUO Li ZHAO Hong PEI Yu-heng HE Quan-ren LI Wan-I ZHANG Ting ZHENG Xiao-ying ZHOU Ran XIE Jun 

机构地区：[1]Department of Biochemistry and Molecular Biology, Ministry of Education Key Laboratory of Cellular Physiology, Shanxi Medical University, Taiyuan, Shanxi 030001,China Department of Physiology, Linfen Vocational and Technical College, Linfen, Shanxi 041000, China [2]Department of Biochemistry and Molecular Biology, Ministry of Education Key Laboratory of Cellular Physiology, Shanxi Medical University, Taiyuan, Shanxi 030001,China [3]Department of Internal Neurology, Second Hospital,Shanxi Medical University, Taiyuan, Shanxi 030001,China [4]Department of Physiology and Pharmacology, University of Georgia, Athens, GA, USA [5]Capital Institute of Pediatrics, Beijing 100020, China [6]Institute of Population Research, Peking University, Beijing 100871, China [7]Department of Prescription and Therapeutic Method, Shanxi Traditional Medical College, Taiyuan, Shanxi 030024, China

出　　处：《Chinese Medical Journal》2011年第3期374-379,共6页中华医学杂志（英文版）

基　　金：This study was supported by the National Key Project of Scientific and Technical Supporting Programs funded by the Ministry of Science ＆ Technology of China （No. 2007BA107A02）, the National Basic Research Program of China （973 Program, No.2007CB511902）, Shanxi Scholarship Council of China （No.2008-48）, Major Program of Shanxi Natural Science Foundation of China （No. 2010011049-2） and the National Key Project of Scientific and Technical Supporting Programs funded by the Ministry of Science ＆ Technology of China （No. 31040056）.

摘　　要：Background Neural tube defects are the most common human birth defects. The causes are multifactorial with complex genetic and environmental factors, although the exact genetic causes are unknown. This research was conducted to study the frequency of Msx2 gene polymorphisms in 59 women with a history of pregnancy with a neural tube defect and in 73 healthy controls. We aimed to determine the effect of this genetic polymorphism on the incidence of neural tube defects in the Han Chinese population.Methods We studied 59 mothers with at least one previous child with a neural tube defect （the case group） and 73case-control subjects during the same period, from Shanxi Province, China. We analyzed the genotypic distributions and allele frequencies of Msx2 C386T poiymorphisms in DNA samples from the case and control groups. A three-dimensional protein model was predicted using Swiss-Pdb Viewer software version 4.0. Disease association was analyzed using chi-square tests.Results Significant differences were observed in the genotypes and allele frequencies of the Msx2 C386T allele between the case and control groups （CT： 32% vs. 15%, P=0.0073 and TT 15% vs. 4%, P=0.013, respectively）. Logistic regression analysis showed that the C386T mutation is a potential risk factor for neural tube defects （P 〈0.05; OR： 3.466;95%CI： 1.831-6.560）. Three-dimensional structure prediction revealed that the Msx2 C386T mutation results in a threonine substitution for methionine at position 129 of exon 2, which might lead to structural mutations or dysfunctions in the protein encoded by Msx2.Conclusion Maternal Msx2 C386T gene polymorphisms were associated with fetal neural tube defects in Han Chinese women in Shanxi Province.Background Neural tube defects are the most common human birth defects. The causes are multifactorial with complex genetic and environmental factors, although the exact genetic causes are unknown. This research was conducted to study the frequency of Msx2 gene polymorphisms in 59 women with a history of pregnancy with a neural tube defect and in 73 healthy controls. We aimed to determine the effect of this genetic polymorphism on the incidence of neural tube defects in the Han Chinese population.Methods We studied 59 mothers with at least one previous child with a neural tube defect （the case group） and 73case-control subjects during the same period, from Shanxi Province, China. We analyzed the genotypic distributions and allele frequencies of Msx2 C386T poiymorphisms in DNA samples from the case and control groups. A three-dimensional protein model was predicted using Swiss-Pdb Viewer software version 4.0. Disease association was analyzed using chi-square tests.Results Significant differences were observed in the genotypes and allele frequencies of the Msx2 C386T allele between the case and control groups （CT： 32% vs. 15%, P=0.0073 and TT 15% vs. 4%, P=0.013, respectively）. Logistic regression analysis showed that the C386T mutation is a potential risk factor for neural tube defects （P 〈0.05; OR： 3.466;95%CI： 1.831-6.560）. Three-dimensional structure prediction revealed that the Msx2 C386T mutation results in a threonine substitution for methionine at position 129 of exon 2, which might lead to structural mutations or dysfunctions in the protein encoded by Msx2.Conclusion Maternal Msx2 C386T gene polymorphisms were associated with fetal neural tube defects in Han Chinese women in Shanxi Province.

关 键 词：neural tube defects Msx2 single nucleotide polymorphism protein modeling 

分 类 号：Q344.5[生物学—遗传学] Q346.5