Single-nucleotide polymorphisms of methylenetetrahydrofolate reductase gene in a South Indian cohort with nonsyndromic cleft lip with or without palate
| Autor: | Jagadish Kudkuli, Shetty P, Saketh Kapoor, Aziz Nz, Prabhu, Riaz Abdulla |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Genetics
Sanger sequencing education.field_of_study Population Single-nucleotide polymorphism Biology methylenetetrahydrofolate reductase Penetrance nonsyndromic cleft lip with without palate Pathology and Forensic Medicine symbols.namesake c.1298A>C Otorhinolaryngology Polymorphism (computer science) Methylenetetrahydrofolate reductase single-nucleotide polymorphisms Genotype biology.protein symbols Population study Original Article education c.677C>T homocysteine-folate metabolism General Dentistry |
| Zdroj: | Journal of Oral and Maxillofacial Pathology : JOMFP |
| ISSN: | 0973-029X |
| DOI: | 10.4103/jomfp.jomfp_329_19 |
| Popis: | Objective: Clefts of the lip, with or without cleft palate and cleft palate only, collectively called as orofacial clefts (OFCs) are one of the most common congenital malformations with varying degrees of penetrance and phenotype expressions. The aim of this study was to investigate the association between methylenetetrahydrofolate reductase (MTHFR) cytosine-to-thymine (c. 677 C>T), adenine-to-cytosine (c.1298 A>C) single- nucleotide polymorphisms (SNPs) and South Indian patients with the nonsyndromic cleft lip with or without palate (NSCL ± P). Methods: A cohort consisting of 25 cases of NSCL ± P and 18 controls from a South Indian cohort were included in this case–control study. Genetic analysis of c.677C>T and c.1298A C polymorphisms in the MTHFR gene was carried out using Sanger sequencing and analyzed from chromatogram profiles. Data interpretation was done using statistical software MedCalc Statistical Software version 16.2 and the Statistical Package for the Social Sciences (SPSS version 22.0). Results: DNA sequence analysis of the MTHFR gene revealed c. 677C>T and c. 1298A>C polymorphisms in 16% and 76% of NSCL ± P cases, respectively. Heterozygous variant in MTHFR c. 1298A>C polymorphism was found to be a significant risk factor (P = 0.0164) for NSCL ± P in South Indian ethnic population. c.677C>T polymorphism, in particular, was apparently dormant overall in the study population. These results offer certain novelty in terms of the distinctive pattern in SNPs of genotypes observed in the study. Conclusion: NSCL ± P is one of the most common and challenging congenital malformations with complex etiological basis. Common risk factors such as MTHFR SNPs, namely c.677C>T and c.1298A>C, are subjected to variations in terms of ethnic group, geographic region and micro/macro-environmental factors. Overall, our study has explored part of South Indian ethnic population and revealed a different and unique distribution of mutations in this sample population. |
| Databáze: | OpenAIRE |
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