Transcobalamin and methionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans

被引：71
作者：
Guéant-Rodriguez, RM
Rendeli, C
Namour, B
Venuti, L
Romano, A
Anello, G
Bosco, P
Debard, R
Gérard, P
Viola, M
Salvaggio, E
Guéant, JL
机构：
[1] Fac Med, INSERM 0014, EMI, URM IFREMER, F-54500 Vandoeuvre Les Nancy, France
[2] Univ Cattolica Sacro Cuore, Dept Pediat, Rome, Italy
[3] UCSC, Allergy Unit, Complesso Integrato Columbus, Dept Internal Med, Rome, Italy
[4] IRCCS, Oasi Maria SS Inst Res Mental Retardat & Brain Ag, I-94018 Troina, EN, Italy
来源：
NEUROSCIENCE LETTERS | 2003年 / 344卷 / 03期
关键词：
neural tube defect; single nucleotide polymorphism; transcobalamin; methionine synthase;
D O I：
10.1016/S0304-3940(03)00468-3
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
The pathogenic mechanism of neural tube defects may involve genetic polymorphisms and nutritional factors related to homocysteine metabolism. We evaluated the association of polymorphisms of three genes affecting vitamin B12-dependent remethylation of homocysteine, transcobalamin (TC), methionine synthase (MTR) and MTR reductase (MTRR), combined or not with methylenetetrahydrofolate reductase (MTHFR), with the risk of having neural tube defect in 40 children with spina bifida and 58 matched controls from South Italy. MTR 2756 AG/GG, TC 777 CG/GG/MTHFR 677 CC and MTRR 66 GG/MTHFR 677 CC genotypes increased the risk with odds ratios of 2.6 (P = 0.046), 2.4 (P = 0.028) and 4.5 (P = 0.023), respectively. In contrast, MTHFR 677 TT was protective (odds ratio = 0.11, P = 0.009). In conclusion, genetic determinants affecting the cellular availability or MTRR-dependent reduction of B12 may increase the risk of spina bifida. (C) 2003 Elsevier Science Ireland Ltd. All rights reserved.
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页码：189 / 192
页数：4
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