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

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Kumar Neela Praveen; Reddy Gosla Srinivas; Husain Akhter; Mohan Vasavi; Thumoju Sravya; B.V. Rajeshwari

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Journal: JOURNAL OF DENTAL RESEARCH, DENTAL CLINICS, DENTAL PROSPECTS Year:2020 | Volume:14 | Issue:2 Page(s): 93-96

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Title

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

Author(s)

Keywords

Cleft lip palate

Gene

Polymorphism

Abstract

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 Genes reported 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.

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APA: Copy

Kumar Neela, Praveen, Reddy Gosla, Srinivas, Husain, Akhter, Mohan, Vasavi, Thumoju, Sravya, & B.V., Rajeshwari. (2020). Association of MAPK4 and SOX1-OT gene polymorphisms with cleft lip palate in multiplex families: A genetic study. JOURNAL OF DENTAL RESEARCH, DENTAL CLINICS, DENTAL PROSPECTS, 14(2), 93-96. SID. https://sid.ir/paper/776414/en

Vancouver: Copy

Kumar Neela Praveen, Reddy Gosla Srinivas, Husain Akhter, Mohan Vasavi, Thumoju Sravya, B.V. Rajeshwari. Association of MAPK4 and SOX1-OT gene polymorphisms with cleft lip palate in multiplex families: A genetic study. JOURNAL OF DENTAL RESEARCH, DENTAL CLINICS, DENTAL PROSPECTS[Internet]. 2020;14(2):93-96. Available from: https://sid.ir/paper/776414/en

IEEE: Copy

Praveen Kumar Neela, Srinivas Reddy Gosla, Akhter Husain, Vasavi Mohan, Sravya Thumoju, and Rajeshwari B.V., “Association of MAPK4 and SOX1-OT gene polymorphisms with cleft lip palate in multiplex families: A genetic study,” JOURNAL OF DENTAL RESEARCH, DENTAL CLINICS, DENTAL PROSPECTS, vol. 14, no. 2, pp. 93–96, 2020, [Online]. Available: https://sid.ir/paper/776414/en

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