Polymorphisms in genes RFC-1/CBS as maternal risk factors for Down syndrome in China.

Abstract:

PURPOSE:To explore the relationship between genetic polymorphisms in reduced folate carrier 1 (RFC-1), cystathionine b-synthase (CBS), two key genes in folate metabolism, and the risk of Down syndrome in China. METHODS:Genomic DNA was isolated from the peripheral lymphocytes of 104 mothers born children with Down syndrome and 184 age-matched control mothers. Polymerase chain reaction and restriction-fragment length polymorphism were used to examine the polymorphisms of RFC-1 A80G, CBS T833C and the relationship between these genotypes and the risk of Down syndrome was analyzed. RESULTS:We found that there were significant differences between RFC-1 G80G, CBS C833C polymorphisms among mothers of children with Down syndrome than among control mothers, with odds ratio of 1.51 (95 % CI 1.05-2.18), 1.53 (95 % CI 1.07-2.18) respectively. The combined presence of RFC1 mutant alleles and the CBS homozygous mutant allele (15/104) was associated with a 4.81-fold increased risk of having a child with Down syndrome (95 % CI 1.82-12.68, P = 0.0007). CONCLUSIONS:We concluded that RFC-1 and CBS gene mutation alleles are related to Down syndrome, and women with mutation RFC-1 G80G, CBS C833C OR combined with RFC-1 A80G and CBS 833TT genotype increase the risk of Down syndrome in China.

journal_name

Arch Gynecol Obstet

authors

Wang SS,Wang C,Qiao FY,Lv JJ,Feng L

doi

10.1007/s00404-013-2760-9

subject

Has Abstract

pub_date

2013-08-01 00:00:00

pages

273-7

issue

2

eissn

0932-0067

issn

1432-0711

journal_volume

288

pub_type

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