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):

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

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

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

4. 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.

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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