Association of the single-nucleotide polymorphism (SNP) of rs3135718 site in fibroblast growth factor receptor 2 (FGFR2) gene with congenital microtia was investigated. A total of 193 patients with congenital microtia (observation group) and 150 normal and healthy fetuses (control group) treated in Maternity and Child Health Care of Zaozhuang from January 2010 to October 2017 were randomly selected. The gene and genotype of the rs3135718 site of FGFR2 gene SNP were detected via quantitative polymerase chain reaction (qPCR). The association between rs3135718 site SNP and congenital microtia was analyzed. No statistically significant difference in the prevalence of congenital microtia was observed in the rs3135718 genotype (AG) between the observation and control group (P>0.05). The GG and G genotypes in rs3135718 were closely related to fetal microtia (P<0.05). Results revealed that the rs3135718-GG mutation was more correlated with the risk of microtia in male (P<0.05), but not correlated with the risk of microtia in female (P>0.05). Moreover, there was a statistically significant difference in the distribution of rs3135718-G allele frequency in male between the two groups (P<0.05). The rs3135718-G gene in FGFR2 has a certain association with the incidence of congenital microtia with high prevalence and risk.
Keywords: correlation; fibroblast growth factor 2 gene; microtia.