Association of and Polymorphisms with Non-Syndromic Cleft Lip and Palate in North Indian Patients

Overview

Journal Avicenna J Med Biotechnol

Specialty Biomedical Engineering

Date 2022 May 31

PMID 35633991

Authors

Kapil Kumar Avasthi

Amit Agarwal

Sarita Agarwal

Affiliations

Soon will be listed here.

Abstract

Background: Non-Syndromic Cleft Lip and Palate (NSCL/P) is a multifactorial birth defect. The world-wide prevalence of NSCL/P is 1 in 1000 live births; it differs with race, ethnicity and gender. The aim of the present study was to find out the status of candidate gene polymorphisms in NSCL/P cases and its association in phenotype of the patients.

Methods: We have screened five polymorphisms in four candidate genes (rs1801133, rs1801131) (rs17563), (rs1146297) and (rs2235371) by restriction fragment length polymorphism and results were validated by Sanger sequencing. Our dataset consists of 200 NSCL/P cases and 200 healthy controls from the Indian population. Statistical data analysis was performed by SPSS software.

Results: (rs1801133), (rs175563) and (rs11466297) gene polymorphisms showed significant association with NSCL/P and act as a risk factor in the Indian population (p=<0.05). However, (rs1801131), and (rs2235371) gene polymorphisms did not show significant association with NSCL/P in the Indian population.

Conclusion: The result of the study suggests an association between (rs1801133), (rs175563) and (rs11466297) polymorphisms with NSCL/P in Indian population.

Citing Articles

Testing Reported Associations of Gene Variants with Non-Syndromic Orofacial Clefts in the Polish Population.

Zawislak A, Wozniak K, Tartaglia G, Kawala B, Gupta S, Znamirowska-Bajowska A Biomedicines. 2024; 12(8).

PMID: 39200165 PMC: 11351639. DOI: 10.3390/biomedicines12081700.

Non-syndromic Cleft Lip and Palate Patients of the North Indian Population and the Association of Methylenetetrahydrofolate Reductase Gene.

Yadav J, Raghav P, Mishra R, Upadhyaya D, Prasad V, Chaturvedi C Cureus. 2024; 16(7):e64812.

PMID: 39156389 PMC: 11330085. DOI: 10.7759/cureus.64812.

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