Association of MSX1 Gene Variants with Nonsyndromic Cleft Lip and/or Palate in the Pakistani Population.
| Autor: | Memon A; Department of Molecular Biology and Genetics, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan.; Department of Oral Biology, Faculty of Dentistry, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan., Khidri FF; Department of Biochemistry, Bilawal Medical College, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan., Waryah YM; Department of Molecular Biology and Genetics, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan.; Department of Molecular Biology and Genetics, Sindh Institute of Ophthalmology and Visual Sciences, Hyderabad, Pakistan., Nigar R; Department of Gynecology and Obstetrics, Bilawal Medical College, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan., Bhinder MA; Department of Human Genetics, University of Health Sciences, Lahore, Pakistan., Shaikh AM; Department of Computer Science, COMSATS University, Wah Campus, Islamabad, Pakistan., Shaikh H; Department of Molecular Biology and Genetics, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan., Waryah AM; Department of Molecular Biology and Genetics, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan. |
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| Jazyk: | angličtina |
| Zdroj: | The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association [Cleft Palate Craniofac J] 2024 Nov; Vol. 61 (11), pp. 1845-1852. Date of Electronic Publication: 2023 Jul 10. |
| DOI: | 10.1177/10556656231185218 |
| Abstrakt: | Objectives: This study investigated the association of MSX1 gene variants rs3821949 and rs12532 with nonsyndromic cleft lip and/or palate (NSCL/P) in the Pakistani population. Design: Comparative cross-sectional study. Setting: Multicenter of CL/P malformation. Patients/Participants: Unrelated Non-Syndromic cleft Lip/Palate patients and healthy controls were enrolled. Methods: One hundred ( n = 100) subjects with NSCL/P and n = 50 unrelated healthy controls were enrolled in a multicenter comparative cross-sectional study. A tetra amplification refractory mutation system (ARMS) polymerase chain reaction (PCR) was performed to analyze MSXI gene single nucleotide variants (SNVs). Results: Among 100 NSCL/P subjects, the majority were males (56%; male: female = 1.27: 1). Most of the cases (74%) had cleft lip and palate (CLP) compared to isolated clefts. Genotyping of MSX1 gene variant rs3821949 showed an increased risk for NSCL/P in various genetic models ( P < 0.0001), and the A allele exhibited a more than 4-fold increased risk among cases (OR = 4.22: 95% CI = 2.16-8.22; P < 0.0001). Our investigation found no significant difference between the rs12532 variation and NSCL/P. Conclusion: Our study findings suggest that MSX1 gene variants may increase predisposition to NSCL/P in the Pakistani population. Further studies comprising large samples are required to identify the genetic aetiology of NSCL/P among our people. Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. |
| Databáze: | MEDLINE |
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