en 35633991 <p style="text-align:justify"><span style="font-size:11pt"><span style="font-size:9.5pt">Background: </span><span style="font-size:10.0pt">Non-Syndromic Cleft Lip and Palate (NSCL/P) is a multifactorial birth defect. The world-wide prevalence of NSCL/P is 1 in 1000 live births; it differs with race, ethnicity and gender. The aim of the present study was to find out the status of candidate gene polymorphisms in NSCL/P cases and its association in phenotype of the patients. </span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-size:9.5pt">Methods: </span><span style="font-size:10.0pt">We have screened five polymorphisms in four candidate genes <em>MTHFR</em> (rs1801133, rs1801131) <em>BMP4</em> (rs17563), <em>TGFA</em> (rs1146297) and <em>IRF6</em> (rs2235371) by restriction fragment length polymorphism and results were validated by Sanger sequencing. Our dataset consists of 200 NSCL/P cases and 200 healthy controls from the Indian population. Statistical data analysis was performed by SPSS software.</span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-size:9.5pt">Results: </span><em><span style="font-size:10.0pt">MTHFR</span></em><span style="font-size:10.0pt"> (rs1801133), <em>BMP4</em> (rs175563) and <em>TGFA</em> (rs11466297) gene polymorphisms showed significant association with NSCL/P and act as a risk factor in the Indian population (p=&lt;0.05). However, <em>MTHFR</em> (rs1801131), and <em>IRF6</em> (rs2235371) gene polymorphisms did not show significant association with NSCL/P in the Indian population. </span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-size:9.5pt">Conclusion: </span><span style="font-size:10.0pt">The result of the study suggests an association between <em>MTHFR</em> (rs1801133), <em>BMP4</em> (rs175563) and <em>TGFA</em> (rs11466297) polymorphisms with NSCL/P in Indian population. </span></span></p> BMP4, Indian population, IRF6, MTHFR, NSCL/P, TGFA 175 180 https://www.ajmb.org/En/Article.aspx?id=60501 https://www.ajmb.org/PDF/En/FullText/60501.pdf KapilAvasthiDepartment of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow 226014, India91862AmitAgarwalDepartment of Burn and Plastic Surgery, Vivekananda Polyclinic and Institute of Medical Sciences (VPIMS), Lucknow 226007, India91863SaritaAgarwalDepartment of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow 226014, India91864