Association of MSX1 Gene Variants with Nonsyndromic Cleft Lip and/or Palate in the Pakistani Population.
Cleft Palate Craniofac J
; : 10556656231185218, 2023 Jul 10.
Article
em En
| MEDLINE
| ID: mdl-37431261
ABSTRACT
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Clinical_trials
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Idioma:
En
Revista:
Cleft Palate Craniofac J
Assunto da revista:
ODONTOLOGIA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Paquistão