+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

BHMT G742A and MTHFD1 G1958A polymorphisms and Down syndrome risk in the Brazilian population

BHMT G742A and MTHFD1 G1958A polymorphisms and Down syndrome risk in the Brazilian population

Genetic Testing and Molecular Biomarkers 16(6): 628-631

Mechanisms underlying meiotic nondisjunction are poorly understood. Attempts to elucidate the causes of Down syndrome (DS) have analyzed the relationship between polymorphism in folate metabolism and DS. The role of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) G1958A and betaine-homocysteine methyltransferase (BHMT) G742A polymorphisms in DS risk was investigated. Blood samples were collected from a total of 86 DS mothers and from 161 control mothers. The investigation of the MTHFD1 G1958A polymorphism was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and by real-time PCR for the BHMT G742A polymorphism. The median maternal age of case mothers (30.40; 12.9-46.3 years) was significantly higher (p<0.0005) than in the control group (26.60; 15.4-57.9 years). The frequency of BHMT variant genotypes was significantly lower in DS mothers compared with controls (p=0.047). A significant decreased risk for BHMT 742 AA genotype (odds ratio [OR]=0.30; 95% confidence interval [CI]: 0.10-0.93; p=0.037) was observed. Moreover, when the dominant model was applied (BHMT 742GA or 7428AA versus 742GG), there was also a significant decrease in DS risk (OR=0.58; 95% CI: 0.37-0.98; p=0.042). MTHFD1 G1958A genotype frequencies were not significantly altered in DS mothers (p=0.206). Our study suggests that the polymorphism BHMT G742A may modulate the DS risk in Brazilian mothers.

Please choose payment method:

(PDF emailed within 0-6 h: $19.90)

Accession: 051742326

Download citation: RISBibTeXText

PMID: 22339736

DOI: 10.1089/gtmb.2011.0257

Related references

MTHFD1 G1958A, BHMT G742A, TC2 C776G and TC2 A67G polymorphisms and head and neck squamous cell carcinoma risk. Molecular Biology Reports 39(2): 887-893, 2012

Folate gene polymorphisms MTR A2756G, MTRR A66G, and BHMT G742A and risk for coronary artery disease: a meta-analysis. Genetic Testing and Molecular Biomarkers 16(6): 471-475, 2012

G894T (NOS3) and G1958A (MTHFD1) gene polymorphisms and risk of ischemic heart disease in Yucatan, Mexico. Clinica E Investigacion en Arteriosclerosis 27(2): 64-73, 2016

Detection of Polymorphisms in MTHFD1 G1958A and Its Possible Association with Idiopathic Male Infertility. Urology Journal 2019, 2019

Association analysis of CbetaS 844ins68 and MTHFD1 G1958A polymorphisms with Alzheimer's disease in Chinese. Journal of Neural Transmission 117(4): 499-503, 2010

Plasma homocysteine, MTHFR C677T, CBS 844ins68bp, and MTHFD1 G1958A polymorphisms in spontaneous cervical artery dissections. Journal of Neurology 251(10): 1242-1248, 2004

MTHFR and MTHFD1 gene polymorphisms are not associated with pseudoexfoliation syndrome in South Indian population. International Ophthalmology 38(2): 599-606, 2017

Head and neck carconogenesis: impact of MTHFD1 G1958A polymorphism. Revista Da Associacao Medica Brasileira 57(2): 194-199, 2012

Carcinognese de cabea e pescoo: impacto do polimorfismo MTHFD1 G1958A. Revista Da Associação Médica Brasileira 57(2): 194-199, 2011

Paternal transmission of MTHFD1 G1958A variant predisposes to neural tube defects in the offspring. Developmental Medicine and Child Neurology 58(6): 625-631, 2017

Association between MTHFD1 G1958A polymorphism and neural tube defects susceptibility: a meta-analysis. Plos One 9(6): E101169, 2015

BHMT gene polymorphisms as risk factors for cleft lip and cleft palate in a Chinese population. Biomedical and Environmental Sciences 24(2): 89-93, 2011

Association between HIC1 and RASSF1A promoter hypermethylation with MTHFD1 G1958A polymorphism and clinicopathological features of breast cancer in Iranian patients. Iranian Biomedical Journal 13(4): 199-206, 2010

PPARα polymorphisms as risk factors for dyslipidemia in a Brazilian population. Molecular Genetics and Metabolism 102(2): 189-193, 2011

Polymorphisms in MTHFD1 Gene and Susceptibility to Neural Tube Defects: A Case-Control Study in a Chinese Han Population with Relatively Low Folate Levels. Medical Science Monitor 21: 2630-2637, 2016