Dataset Information

Association of Wnt9B rs1530364 and Wnt5A rs566926 Gene Polymorphisms with Nonsyndromic Cleft lip and Palate in South Indian Population using Deoxyribonucleic Acid Sequencing.

ABSTRACT: Context:Nonsyndromic cleft lip with or without cleft palate (CL/CP) is a common congenital facial malformation without any other structural or developmental abnormalities. Aims and Objectives:To test the association of Wnt9B rs1530364 and Wnt5A rs566926 gene variants with the nonsyndromic CL/CP patients in South Indian population. Methods:Deoxyribonucleic acid (DNA) samples of 25 subjects with nonsyndromic cleft lip and palate (NSCLP) and 25 unrelated controls collected from the department were used for the study. Group A: DNA samples of 25 subjects NSCLP (P1-P25). Group B: DNA samples of 25 unrelated controls (C1-C25). The extracted DNA samples were subjected to polymerase chain reaction, and later, these amplified products were subjected to DNA sequencing. Results were documented in the form of electropherograms. Results:The results indicated that there is a strong association between the presence of Wnt9B rs1530364 gene with the incidence of NSCLP. This study also suggests that the likelihood of NSCLP is higher in subjects having CC (P = 0.02) genotype for Wnt9B gene variant rs1530364. Conclusion:We can conclude that Wnt9B gene variant rs1530364 can be considered as genetic marker for NSCLP for our population.

SUBMITTER: Jain R

PROVIDER: S-EPMC7580756 | biostudies-literature | 2020 Jan-Mar

REPOSITORIES: biostudies-literature

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Association of Wnt9B rs1530364 and Wnt5A rs566926 Gene Polymorphisms with Nonsyndromic Cleft lip and Palate in South Indian Population using Deoxyribonucleic Acid Sequencing.

Jain Rohit R Dharma R M RM Dinesh M R MR Amarnath B C BC Hegde Manjunath M Pramod K M KM

Contemporary clinical dentistry 20200101 1

<h4>Context</h4>Nonsyndromic cleft lip with or without cleft palate (CL/CP) is a common congenital facial malformation without any other structural or developmental abnormalities.<h4>Aims and objectives</h4>To test the association of Wnt9B rs1530364 and Wnt5A rs566926 gene variants with the nonsyndromic CL/CP patients in South Indian population.<h4>Methods</h4>Deoxyribonucleic acid (DNA) samples of 25 subjects with nonsyndromic cleft lip and palate (NSCLP) and 25 unrelated controls collected fro ...[more]

PMID: 33110311

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Project description:ObjectiveClefts 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).MethodsA 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).ResultsDNA 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.ConclusionNSCL ± 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.

Dataset Information

Association of Wnt9B rs1530364 and Wnt5A rs566926 Gene Polymorphisms with Nonsyndromic Cleft lip and Palate in South Indian Population using Deoxyribonucleic Acid Sequencing.

Publications

Association of Wnt9B rs1530364 and Wnt5A rs566926 Gene Polymorphisms with Nonsyndromic Cleft lip and Palate in South Indian Population using Deoxyribonucleic Acid Sequencing.

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