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

Authors

  • 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

DOI:

https://doi.org/10.47391/JPMA.9273

Keywords:

Cleft lip, Cleft palate, Folic acid, Gene, MTHFR, Variant

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 mother-infant 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.

Published

2023-12-24

How to Cite

Effendi, S., Memon , S., Khidri, F. F., & Waryah , A. M. (2023). Association of methylenetetrahydrofolate reductase gene variant C677T and folate levels in non-syndromic cleft lip/palate among Sindhi, Pakistani population. Journal of the Pakistan Medical Association, 74(1), 145–148. https://doi.org/10.47391/JPMA.9273

Issue

Section

Short Communication / Short Report