颅面
基因座(遗传学)
基因型
医学
单核苷酸多态性
遗传学
生物
内科学
基因
病例对照研究
肿瘤科
精神科
作者
Xiaotong Wang,Haiqing Song,Xiaohui Jiao,Hao Yu,Wei Zhang,Yuwei Gao,Yong Li,Na Mi,Jingwen Yan
摘要
Background Non‐syndromic orofacial cleft ( NSOC ) is a common craniofacial deformity among newborns. The GREM 1 gene is correlated with orofacial development. The aim of our study was to investigate the association between a single‐nucleotide polymorphism in the GREM 1 gene and this malformation in the Chinese population. Methods The SN aPshot mini‐sequencing technique was used to genotype the locus rs1258763 of the GREM 1 gene in 331 patients with NSOC and 271 individuals in a control group. Results For GREM 1 rs1258763, there was a significant difference between the NSOC case group and control group ( P = .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 GREM 1 rs1258763 GA genotype might contribute to the elevated risk of the cleft lip with or without cleft palate ( CL /P) ( P = .029). Non‐significant differences were found between the cleft palate only ( CPO ) and control groups ( P = .077). Conclusion Our findings revealed that the GREM 1 polymorphism was significantly associated with the risk of NSOC in the Chinese population.
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