Neagos Daniela, Cretu Ruxandra, Tutulan-Cunita Andreea, Stoian Veronica, Bohiltea Laurentiu Camil
Carol Davila University of Medicine and Pharmacy, Department of Genetics, Bucharest, Romania.
J Med Life. 2010 Oct-Dec;3(4):454-7.
Recent reports linking Down syndrome (DS) to maternal polymorphism at the methylenetetrahydrofolate dehydrogenase (MTHFD) locus have generated a great interest among investigators in the field. In the current study, we examine one genetic polymorphism involved in homocysteine/folate pathway as a risk factor for DS in a Romanian urban-area women cohort. Our results show that the frequencies of MTHFD1 alleles, as well as the frequencies of MTHFD11958 genotypes (GG, GA, AA, GA+AA) do not correlate with DS pregnancies, demonstrating no difference between the case and control groups, as opposed to the findings of Scala et al. (2006) on an Italian cohort.
近期有报告将唐氏综合征（DS）与亚甲基四氢叶酸脱氢酶（MTHFD）基因座处的母体多态性联系起来，这引起了该领域研究人员的极大兴趣。在本研究中，我们在罗马尼亚城市地区女性队列中，研究了参与同型半胱氨酸/叶酸途径的一种基因多态性作为DS的风险因素。我们的结果显示，MTHFD1等位基因的频率以及MTHFD1 1958基因型（GG、GA、AA、GA + AA）的频率与DS妊娠无关，表明病例组和对照组之间没有差异，这与Scala等人（2006年）对意大利队列的研究结果相反。
