GREM1 基因单核苷酸多态性与中国人群非综合征性口腔颌面裂的相关性研究。
Association between a single-nucleotide polymorphism in the GREM1 gene and non-syndromic orofacial cleft in the Chinese population.
机构信息
Department of Oral Maxillofacial Surgery, The First Affiliated Hospital, Harbin Medical University, Harbin, China.
Department of Stomatology, Plastic surgery hospital, Chinese Academy of Medical Science and Peking Union Medical College, Shijingshan District, Beijing.
出版信息
J Oral Pathol Med. 2018 Feb;47(2):206-210. doi: 10.1111/jop.12662. Epub 2017 Dec 7.
BACKGROUND
Non-syndromic 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 = .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 = .029). Non-significant differences were found between the cleft palate only (CPO) and control groups (P = .077).
CONCLUSION
Our findings revealed that the GREM1 polymorphism was significantly associated with the risk of NSOC in the Chinese population.
背景
非综合征性口面裂（NSOC）是一种常见的新生儿颅面畸形。GREM1 基因与口面发育有关。本研究旨在探讨 GREM1 基因单核苷酸多态性与中国人该畸形的关系。
方法
采用 SNaPshot 迷你测序技术对 331 例 NSOC 患者和 271 例对照组 GREM1 基因 rs1258763 位点进行基因分型。
结果
对于 GREM1 rs1258763，NSOC 病例组与对照组之间存在显著差异（P=.022）。携带 GA 和 GA/AA 基因型的儿童患 NSOC 的风险增加（OR=1.62，95%CI：1.15-2.30；OR=1.52，95%CI：1.09-2.12）。在裂隙亚组中，我们发现 GREM1 rs1258763 GA 基因型可能导致唇裂伴或不伴腭裂（CL/P）风险升高（P=.029）。CPO 组与对照组之间无显著差异（P=.077）。
结论
我们的研究结果表明，GREM1 多态性与中国人 NSOC 的发病风险显著相关。
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