TGFβ3, MSX1, and MMP3 as Candidates for NSCL±P in an Indian Population

Objective:To evaluate the association of transforming growth factor β3 (TGFβ3), muscle segment homeobox 1 (MSX1), Metalloproteinases 3 (MMP3), and MMP9 genes as candidates for nonsyndromic cleft lip and/or palate in an Indian population.Design:Case–control association study, mutational screening, and functional evaluation of obtained mutations.Setting:Mutational screening of the developmental genes, TGFβ3 and MSX1, along with functional evaluation and association of promoter region SNPs—one each in MMP3 and MMP9.Patients, Participants:Two hundred forty five NSCL±P cases from G. S. Memorial Plastic Surgery Hospital and Trauma Center, Varanasi and 201 healthy controls without a family history of congenital malformations from nearby schools, primary health centers, and the university hospital.Main Outcome Measure(s):Sequencing, SSCP, and PCR-RFLP were used for candidate gene screening. MatInspector and electrophoretic mobility shift assay (EMSA) were used to check the differential transcription factor bindin...