Association of MAPK4 and SOX1-OT gene polymorphisms with cleft lip palate in multiplex families: A genetic study.

Autor:	Neela PK; Department of Orthodontics, Kamineni Institute of Dental Sciences, Narketpally. India., Gosla SR; Department of Cranio-maxillofacial Surgery AIIMS, Rishikesh, Hyderabad, India., Husain A; Department of Orthodontics, Yenepoya Dental College, Yenepoya University, Mangalore, India., Mohan V; Department of Genetics and Molecular Medicine, Vasavi Medical and Research Centre, Hyderabad, India., Thumoju S; Department of Genetics and Molecular Medicine, Vasavi Medical and Research Centre, Hyderabad, India., Bv R; Surabhi Institute of Medical Sciences, Telangana, India.
Jazyk:	angličtina
Zdroj:	Journal of dental research, dental clinics, dental prospects [J Dent Res Dent Clin Dent Prospects] 2020 Spring; Vol. 14 (2), pp. 93-96. Date of Electronic Publication: 2020 Jun 17.
DOI:	10.34172/joddd.2020.021
Abstrakt:	Background. Cleft lip and palate (CLP) is a common congenital anomaly. Many genes, like MAPK4 and SOX-1OT, are associated with its etiology in different populations. High-risk markers on these gene sreported in other populations were not studied in our population. Hence, the study aimed to determine the association of MAPK4 and SOX-1OT polymorphisms in CLP in multiplex families. Methods. Based on inclusion and exclusion criteria, we selected 20 multiplex CLP families for this case‒control study, in which the affected individuals and healthy controls selected from these families were compared. Fifty subjects affected with cleft and 38 unaffected subjects were included in the study. The polymorphisms studied for the association consisted of rs726455 and rs2969972 in the genes SOX-1 OT and MAPK4, respectively. DNA was isolated and sent for genotyping using the MassArray method. Plink, a whole-genome association analysis toolset, was used for statistical analysis. Results. Both polymorphisms followed Hardy-Weinberg equilibrium. The rs726455 of SOX-1OT yielded a P-value of 0.983 and an allelic odds ratio (OR) of 0.983. For rs2969972 of MAPK4, the P-value was 0.04 (significant), and the allelic OR was 0.51. Minor allele frequency (MAF) in the unaffected subjects was more than the MAF in the affected subjects for rs2969972. Conclusion. The results suggested that polymorphism rs726455 on SOX-1OT was not associated with familial cases of CLP. Since MAF in the unaffected subjects was more than the MAF-affected subjects, rs2969972 on MAPK4 is protective in the multiplex families. (© 2020 The Authors.)
Databáze:	MEDLINE
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