Association of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral clefts.

ABSTRACT:

Background

Oral clefts are common congenital anomalies and result from defects during embryogenesis. The complex etiology is evident by the number of genes and signaling pathways involved in craniofacial development. Matrix metalloproteinases (MMPs) and their inhibitors (TIMPs) are responsible for tissue remodeling during craniofacial development.

Methods

In this study, we investigated the association of polymorphisms in 14 biologically relevant MMP and TIMP genes in 494 individuals with oral clefts and 413 control individuals from Brazil. Genotypes were generated using Taqman chemistry. Analyses were performed using PLINK software.

Results

Polymorphisms in MMP3 (rs522616) and TIMP2 (rs8179096) showed significant association with all cleft types (all clefts, cleft lip

SUBMITTER: Letra A 

PROVIDER: S-EPMC3393800 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature