Abstract
Non-syndromic cleft lip with or without palate (NSCL/P) is a common congenital malformation worldwide, with complex etiology. It has been proposed that interaction of genes and environmental factors play a role in the predisposition to this disease.Objectives:The aim of this study was to examine the association between AXIN2 (axis inhibition protein 2) rs7224837, BMP4 (bone morphogenetic protein 4) rs17563, and IRF6 (interferon regulatory factor 6) rs861019 and 2235371 polymorphisms and NSCL/P in an Iranian population.Material and Methods:This case-control study was carried out on 132 unrelated NSCL/P patients and 156 healthy subjects. The variants were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).Results:The findings suggest that BMP4 rs17563 polymorphism significantly decreased the risk of NSCL/P in codominant (OR=0.36, 95%CI=0.17-0.79, p=0.012, CT vs CC and OR=0.11, 95%CI=0.01-0.88, p = 0.019, TT vs CC), dominant (OR=0.30, 95%CI=0.15-0.62, p = 0.0007, CT+TT vs CC), recessive (OR=0.12, 95%CI=0.02-0.99, p = 0.023, TT vs CC+CT), overdominant (OR=0.39, 95%CI = 0.18-0.84, p=0.021, CT vs CC+TT), and allele (OR=0.28, 95%CI=0.15-0.55, p<0.0001, T vs C) inheritance models. Our findings did not support an association between AXIN2 rs7224837 and IRF6 rs861019 polymorphism and risk/protection of NSCL/P. The IRF6 2235371 variant was not polymorphic in our population.Conclusion:The results indicate that the BMP4 rs17563 variant is likely to confer a protective effect against the occurrence of NSCL/P in a sample of the southeast Iranian population.
Highlights
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common congenital malformations among live births worldwide[5]
The findings revealed that bone morphogenetic protein 4 (BMP4) rs17563 polymorphism significantly decreased the risk of NSCL/P in codominant (OR=0.36, 95%CI=0.17-0.79, p=0.012, CT vs CC and OR=0.11, 95%CI=0.010.88, p=0.019, TT vs CC), dominant (OR=0.30, 95%CI=0.15-0.62, p=0.0007, CT+TT vs CC), recessive
In comparison to the reference interferon regulatory factor 6 (IRF6) rs861019 GG, BMP4 rs17563 CC, AXIN2 rs7224837 CC, and the *$&7$$ JHQRW\SH VLJQL¿FDQWO\ GHFUHDVHG WKH ULVN of NSCL/P (OR=0.23, 95%CI=0.07-0.75, p=0.013)
Summary
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common congenital malformations among live births worldwide[5]. The prevalence of NSCL/P is about 1.7 per 1000 live births, this rate is different in terms of geographical position and ethnicity[18], with higher occurrence in Asian and Native American populations than in African populations. Wnts are a family of signaling molecules that play critical roles in diverse aspects of craniofacial development. The AXIN2 (axis inhibition protein 2) acts as a tumor suppressor gene in numerous cancers mapped at human chromosome 17q23-q246. It has been shown that members of the Wnts gene family are associated with clefts in humans and mice[11]. Mutations or polymorphisms in AXIN2 have been shown to be associated with increased susceptibility to cancer[9,10] and familial tooth agenesis[10,16]
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