Publication Date:
2010-01-01
Description:
This study aimed to investigate the role of maternal polymorphisms, as well as their risk genotypes combinations ofMTRA2756G,MTRRA66G,CBS844ins68, andRFCA80G, involved in folate/homocysteine metabolism, as possible risk factors for Down syndrome (DS) in Southern Brazil. A case-control study was conducted with 239~mothers of DS children and 197 control mothers. The investigation of polymorphisms was performed by PCR and PCR-RFLP. The distribution of genotypic variants was similar in both groups when they were analyzed separately. An investigation of combined risk genotypes showed that the risk of having a DS child for one, two or three risk genotypes was 6.23, 6.96 and 5.84 (95%CI 1.48–26.26; 1.69–28.66; 1.37–24.86), respectively. The combinedMTRR66G andMTHFR677T alleles were significantly more common among mothers of children with DS than among control mothers (OR 1.55; IC 95% 1.03–2.35). The results show that individual polymorphisms studied in this work are not associated with DS; however, the effects of the combined risk genotypes amongMTR, MTRR, CBSandRFCgenes are considered maternal risk factors for DS offspring in our population.
Print ISSN:
0278-0240
Electronic ISSN:
1875-8630
Topics:
Biology
,
Chemistry and Pharmacology
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