دورية أكاديمية
أعرض في EDS

Single-nucleotide polymorphisms of methylenetetrahydrofolate reductase gene in a South Indian cohort with nonsyndromic cleft lip with or without palate.

التفاصيل البيبلوغرافية
العنوان: Single-nucleotide polymorphisms of methylenetetrahydrofolate reductase gene in a South Indian cohort with nonsyndromic cleft lip with or without palate.
المؤلفون: Abdulla R; Department of Oral Pathology and Microbiology, Yenepoya Dental College, Yenepoya (Deemed to be University), Mangalore, Karnataka, India.; Department of Biomaterials and Research Centre, Yenepoya Dental College, Yenepoya (Deemed to be University), Mangalore, Karnataka, India., Kudkuli J; Yenepoya Research Centre, Yenepoya (Deemed to be University), Mangalore, Karnataka, India., Kapoor S; Stem Cells and Regenerative Medicine Centre, Yenepoya (Deemed to be University), Mangalore, Karnataka, India., Prabhu V; Department of Oral Pathology and Microbiology, Yenepoya Dental College, Yenepoya (Deemed to be University), Mangalore, Karnataka, India., Shetty P; Department of Oral Pathology, A B Shetty Memorial Institute of Dental Sciences, NITTE (Deemed to be University), Mangalore, Karnataka, India., Aziz NZ; Department of Oral Pathology, Century International Institute of Dental Sciences, Poinachi, Kerala, India.
المصدر: Journal of oral and maxillofacial pathology : JOMFP [J Oral Maxillofac Pathol] 2020 Sep-Dec; Vol. 24 (3), pp. 453-458. Date of Electronic Publication: 2021 Jan 09.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Medknow Publications Pvt. Ltd Country of Publication: India NLM ID: 101227995 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0973-029X (Print) Linking ISSN: 0973029X NLM ISO Abbreviation: J Oral Maxillofac Pathol Subsets: PubMed not MEDLINE
أسماء مطبوعة: Publication: 2007- : Mumbai : Medknow Publications Pvt. Ltd.
Original Publication: Chennai, Tamilnadu : [s.n.]
مستخلص: 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.
Competing Interests: There are no conflicts of interest.
(Copyright: © 2021 Journal of Oral and Maxillofacial Pathology.)
References: Arch Oral Biol. 2016 Jan;61:79-82. (PMID: 26540672)
J Oral Maxillofac Pathol. 2016 Sep-Dec;20(3):390-394. (PMID: 27721602)
Appl Clin Genet. 2019 Mar 07;12:51-54. (PMID: 30881086)
Braz J Med Biol Res. 2007 Jun;40(6):787-91. (PMID: 17581676)
Clin Chim Acta. 2004 Feb;340(1-2):99-105. (PMID: 14734201)
Annu Rev Med. 1998;49:31-62. (PMID: 9509248)
Int J Pediatr Otorhinolaryngol. 2015 Dec;79(12):2389-93. (PMID: 26586245)
Am J Med Genet. 2001 Feb 1;98(4):357-60. (PMID: 11170082)
Bull World Health Organ. 2004 Mar;82(3):213-8. (PMID: 15112010)
Eur J Hum Genet. 2004 Jul;12(7):521-6. (PMID: 15054400)
PLoS Comput Biol. 2015 Feb 23;11(2):e1004085. (PMID: 25706687)
PLoS One. 2014 Mar 21;9(3):e88242. (PMID: 24658649)
Am J Epidemiol. 2005 Dec 15;162(12):1207-14. (PMID: 16269583)
Birth Defects Res A Clin Mol Teratol. 2004 Nov;70(11):846-52. (PMID: 15523664)
Hum Genet. 2010 Oct;128(4):401-10. (PMID: 20652317)
Genet Med. 2013 Feb;15(2):153-6. (PMID: 23288205)
Eur J Epidemiol. 2007;22(3):173-81. (PMID: 17295096)
Sci Rep. 2014 Aug 22;4:6159. (PMID: 25146845)
Am J Epidemiol. 2003 Apr 1;157(7):583-91. (PMID: 12672677)
Birth Defects Res A Clin Mol Teratol. 2003 Jul;67(7):509-14. (PMID: 14565622)
Birth Defects Res A Clin Mol Teratol. 2005 Feb;73(2):114-22. (PMID: 15602753)
Cleft Palate Craniofac J. 2007 May;44(3):244-50. (PMID: 17477752)
Am J Epidemiol. 2003 Jul 1;158(1):69-76. (PMID: 12835288)
Mol Genet Metab. 1998 Jul;64(3):169-72. (PMID: 9719624)
Hum Mol Genet. 1999;8(10):1853-9. (PMID: 10469837)
Indian J Plast Surg. 2009 Jan-Jun;42(1):68-81. (PMID: 19881024)
Genet Test Mol Biomarkers. 2009 Jun;13(3):355-60. (PMID: 19419265)
J Biosci. 2013 Mar;38(1):21-6. (PMID: 23385809)
Lancet. 2009 Nov 21;374(9703):1773-85. (PMID: 19747722)
Nat Rev Genet. 2011 Mar;12(3):167-78. (PMID: 21331089)
Am J Epidemiol. 2007 Oct 1;166(7):775-85. (PMID: 17609516)
Nat Genet. 1994 Jun;7(2):195-200. (PMID: 7920641)
فهرسة مساهمة: Keywords: c.1298A>C; c.677C>T; homocysteine-folate metabolism; methylenetetrahydrofolate reductase; nonsyndromic cleft lip with without palate; single-nucleotide polymorphisms
تواريخ الأحداث: Date Created: 20210510 Latest Revision: 20220422
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC8083445
DOI: 10.4103/jomfp.JOMFP_329_19
PMID: 33967480
قاعدة البيانات: MEDLINE
الوصف
تدمد:0973-029X
DOI:10.4103/jomfp.JOMFP_329_19