Association between a single-nucleotide polymorphism in the GREM1 gene and nonsyndromic orofacial cleft in the Chinese population

Abstract

Background

Nonsyndromic orofacial cleft (NSOC) is a common craniofacial deformity among newborns. The GREM1 gene is correlated with orofacial development. The aim of our study was to investigate the association between a single-nucleotide polymorphism in the GREM1 gene and this malformation in the Chinese population.

Methods

The SNaPshot mini sequencing technique was used to genotype the locus rs1258763 of the GREM1 gene in 331 patients with NSOC and 271 individuals in a control group.

Results

For GREM1 rs1258763, there was a significant difference between the NSOC case group and control group (P=0.022). Children carrying GA and GA/AA genotypes had an increased risk of NSOC (OR=1.62, 95%CI: 1.15-2.30; OR=1.52, 95%CI: 1.09-2.12). In the cleft subgroup, we found that the GREM1 rs1258763 GA genotype might contribute to the elevated risk of the cleft lip with or without cleft palate (CL/P) (P=0.029). Nonsignificant differences were found between the cleft palate only (CPO) and control groups (P=0.077).

Conclusion

Our findings revealed that the GREM1 polymorphism was significantly associated with the risk of NSOC in the Chinese population.

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