脊柱裂与叶酸相关基因：基因-基因相互作用的研究
Spina bifida and folate-related genes: a study of gene-gene interactions.
作者信息
de Franchis Raffaella, Botto Lorenzo D, Sebastio Gianfranco, Ricci Roberta, Iolascon Achille, Capra Valeria, Andria Generoso, Mastroiacovo Pierpaolo
机构信息
Department of Pediatrics, Federico II University, Napoli, Italy.
出版信息
Genet Med. 2002 May-Jun;4(3):126-30. doi: 10.1097/00125817-200205000-00005.
PURPOSE
To assess whether interactions of common alleles of two folate genes contribute to spina bifida risk.
METHODS
Case-control study, comparing 203 children with spina bifida to 583 controls.
RESULTS
Homozygosity for the 677C-T allele of 5,10-methylenetetrahydrofolate reductase (MTHFR) alone was associated with an odds ratio for spina bifida of 1.57 (95% confidence interval [CI], 1.02-2.38). For the 844ins68 allele of cystathionine-beta-synthase alone, the odds ratio was 0.83 (95% CI, 0.39-1.64). For the joint genotype, the odds ratio was 3.69 (95% CI, 1.04-13.50).
CONCLUSIONS
Interactions between common alleles of folate genes might contribute to the risk for spina bifida.
目的
评估两个叶酸基因的常见等位基因之间的相互作用是否会增加脊柱裂的风险。
方法
病例对照研究，将203名脊柱裂患儿与583名对照进行比较。
结果
仅5,10-亚甲基四氢叶酸还原酶（MTHFR）的677C-T等位基因纯合与脊柱裂的比值比为1.57（95%置信区间[CI]，1.02 - 2.38）。仅胱硫醚-β-合酶的844ins68等位基因，比值比为0.83（95%CI，0.39 - 1.64）。对于联合基因型，比值比为3.69（95%CI，1.04 - 13.50）。
结论
叶酸基因的常见等位基因之间的相互作用可能会增加脊柱裂的风险。
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