Association between SATB2 gene polymorphism and cleft palate only risk in eastern Guangdong population and a meta-analysis

Abstract

To characterize the associations between the cleft palate (CPO) and single nucleotide polymorphisms (SNPs) of special AT-rich sequence-binding protein 2 (SATB2). We recruited 241 CPO and performed a case-control study with 242 controls. Concurrently, 103 of the patients and their normal parents were recruited to perform a case-parent trio study. Sixteen selected SNPs were genotyped. Furthermore, A meta-analysis was used to enhance the robustness of our conclusions. The case-control study provided no support for the hypothesis that any of the 16 selected SNPs played a significant role in CPO. In the meta-analysis, we also did not find that the SATB2 was associated with nonsyndromic cleft palate risk, in Asians or in Caucasians. The 16 selected SNPs do not contribute to the development of CPO.

Identification of RESP18 Gene Mutations Linked to Hereditary Non-Syndromic Cleft Lip and Palate in a Southern Chinese Family

“…A variety of approaches have been used to identify key genes contributing to NSCLP through linkage analysis, genomic rearrangements, candidate genes, and genome-wide association studies (GWAS) [23]. Researchers found several variants on SATB2 and IRF6 genes, which are closely related to the causes of NSCLP [17,30,31]. Yu et al performed GWAS on NSCLP and identified 41 SNPs of achieve genome-wide significance within 26 loci on 14 genes (RAD54B, TMEM19, KRT18, WNT9B, GSC/DICER1, PTCH1, RPS26, OFCC1/TFAP2A, TAF1B, FGF10, MSX1, LINC00640, FGFR1, and SPRY1) [2].…”