Association of methylenetetrahydrofolate reductase gene variant C677T and folate levels in non-syndromic cleft lip/palate among Sindhi, Pakistani population | Journal of Pakistan Medical Association 2024

Author(s)

Sadia Effendi Department of Anatomy, Liaquat University of Medical and Health Sciences,Jamshoro, Pakistan

Samreen Memon Department of Anatomy, Liaquat University of Medical and Health Sciences,Jamshoro, Pakistan

Feriha Fatima Khidri Department of Biochemistry, Bilawal Medical College,Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan

Ali Muhammad Waryah Department of Molecular Biology and Genetics, Medical Research Centre,Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan.

Abstract

The objectives of this study were to determine the association of methylenetetrahydrofolate reductase (MTHFR) gene variant C677T with non-syndromic cleft lip/palate (NSCLP) in Pakistani population and compare the maternal serum folic acid levels in NSCLP-affected and healthy group. A comparative cross sectional study was conducted between 2017 and 2019 at Liaquat University of Medical and Health Sciences, Jamshoro. Sixty motherinfant dyads were recruited (n=120), including NSCLP-affected and healthy infants along with their mothers. The MTHFR C677T variant exhibited significant association with NSCLP in dominant and over-dominant models. No differences in maternal serum folic acid levels were observed between both the groups; however, the folic acid intake during pre-conception period was associated with decreased risk for NSCLP. Our study suggested that MTHFR 677 CT genotype was related with decreased risk for NSCLP in Sindhi, Pakistani, population. Pre-conception folic acid may decrease the risk for oral clefts.

Publication Details

Page(s) 145-148

DOI 10.47391/JPMA.9273

Published Journal: Journal of Pakistan Medical Association, Volume: 74, Issue: 1, Year: 2024

Keywords

Cleft palate Cleft lip Folic acid Gene MTHFR Variant

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