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CC BY 4.0 · Glob Med Genet 2021; 08(01): 024-031
DOI: 10.1055/s-0041-1723087
Original Article

Association of Single Nucleotide Polymorphisms on Locus 18q21.1 in the Etiology of Nonsyndromic Cleft Lip Palate (NSCLP) in Indian Multiplex Families

Praveen Kumar Neela
1   Department of Orthodontics, Kamineni Institute of Dental Sciences, Narketpally, Telangana, India and GSR Institute of Craniomaxillofacial and Facial Plastic Surgery, Hyderabad, Telangana, India
,
Gosla Srinivas Reddy
2   Department of Craniofacial Surgery, GSR Institute of Craniofacial Surgery, Hyderabad, India
,
Akhter Husain
3   Department of Orthodontics, Yenepoya Dental College, Yenepoya University, Mangaluru, Karnataka, India
,
Vasavi Mohan
4   Department of Genetics and Molecular Medicine, Vasavi Medical and Research Centre, Hyderabad, Telangana, India
,
Sravya Thumoju
4   Department of Genetics and Molecular Medicine, Vasavi Medical and Research Centre, Hyderabad, Telangana, India
,
Rajeshwari BV
5   Department of Obstetrics & Gynaecology, Surabhi Institute of Medical Sciences, Telangana, India
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Abstract

Background Cleft lip palate (CLP) is a common congenital anomaly with multifactorial etiology. Many polymorphisms at different loci on multiple chromosomes were reported to be involved in its etiology. Genetic research on a single multigenerational American family reported 18q21.1 locus as a high-risk locus for nonsyndromic CLP (NSCLP). However, its association in multiple multiplex families and Indian population is not analyzed for its association in NSCLP.

Aim This study was aimed to evaluate whether high-risk single nucleotide polymorphisms (SNPs) on chromosome 18q21.1 are involved in the etiology of NSCLP in multiplex Indian families.

Materials and Methods Twenty multigenerational families affected by NSCLP were selected for the study after following inclusion and exclusion criteria. Genomic DNA was isolated from the affected and unaffected members of these 20 multiplex families and sent for genetic analysis. High-risk polymorphisms, such as rs6507872 and rs8091995 of CTIF, rs17715416, rs17713847 and rs183559995 of MYO5B, rs78950893 of SMAD7, rs1450425 of LOXHD1, and rs6507992 of SKA1 candidate genes on the 18q21.1 locus, were analyzed. SNP genotyping was done using the MassARRAY method. Statistical analysis of the genomic data was done by PLINK.

Results Polymorphisms followed the Hardy–Weinberg equilibrium. In the allelic association, all the polymorphisms had a p-value more than 0.05. The odds ratio was not more than 1.6 for all the SNPs.

Conclusion High-risk polymorphisms, such as rs6507872 and rs8091995 of CTIF, rs17715416, rs17713847 and rs183559995 of MYO5B, rs78950893 of SMAD7, rs1450425 of LOXHD1, and rs6507992 of SKA1 in the locus 18q21.1, are not associated with NSCLP in Indian multiplex families.

Keywords

cleft lip palate - chromosome - SNP


Publication History

Article published online:
19 February 2021

© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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