Zhao Ruilian, Du Peixia, Sun Hongmei, Yang Li, Lin Pingzhen
Department of Obstetrics and Gynecology, Maternity and Child Health Care of Zaozhuang, Zaozhuang, Shandong 277100, P.R. China.
Department of Obstetrics and Gynecology, Shanting People's Hospital of Zaozhuang, Zaozhuang, Shandong 277200, P.R. China.
Exp Ther Med. 2019 Jul;18(1):384-388. doi: 10.3892/etm.2019.7568. Epub 2019 May 10.
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.
研究了成纤维细胞生长因子受体2(FGFR2)基因rs3135718位点的单核苷酸多态性(SNP)与先天性小耳畸形的相关性。随机选取2010年1月至2017年10月在枣庄市妇幼保健院治疗的193例先天性小耳畸形患者(观察组)和150例正常健康胎儿(对照组)。通过定量聚合酶链反应(qPCR)检测FGFR2基因SNP的rs3135718位点的基因和基因型。分析rs3135718位点SNP与先天性小耳畸形的相关性。观察组和对照组rs3135718基因型(AG)的先天性小耳畸形患病率无统计学差异(P>0.05)。rs3135718的GG和G基因型与胎儿小耳畸形密切相关(P<0.05)。结果显示,rs3135718-GG突变与男性小耳畸形风险的相关性更强(P<0.05),而与女性小耳畸形风险无关(P>0.05)。此外,两组男性rs3135718-G等位基因频率分布存在统计学差异(P<0.05)。FGFR2中的rs3135718-G基因与高患病率和高风险的先天性小耳畸形的发生率有一定关联。