先前的全基因组关联研究已经确定了染色体20q12基因座中的rs13041247单核苷酸多态性(SNP)与先天性畸形的发展之间的联系,该畸形被称为非综合征性唇裂伴或不伴left裂(NSCL/P)。因此,本荟萃分析旨在正式评估rs13041247与NSCL/P之间的关系。
我们搜索了Embase,WebofScience,PubMed,中国国家知识互联网(CNKI),和中国万方数据库,以确定截至2019年6月25日发布的相关信息。这使我们能够确定13项研究,纳入4914名患者和5981名对照,对其进行了rs13041247基因分型。然后使用STATA12.0对这些汇总结果进行荟萃分析。I2统计量用于比较研究之间的异质性。
该分析总共纳入了13项病例对照研究。在亚洲种族个体中检测到rs13041247多态性与NSCL/P风险之间无关联。(CvsT:OR=0.847,95%CI=0.702-1.021;CCvsTT:OR=0.725,95%CI=0.494-1.063;CCvsCT:OR=0.837,95%CI=0.657-1.037;CC=0.695TvsCC-0.695%CI=0.然而,对这些研究中所有参与者的总体分析显示rs13041247C等位基因,CT基因型,和CCCT模型与降低的NSCL/P风险相关(CvsT:OR=0.897,95%CI:0.723-1.114,P=0.048;CTvsTT:OR=0.839,95%CI:0.734-0.959,P=0.01;CCCTvsTT:OR=0.824,95%CI:0.701-0.968,P=0.019)。
这些结果表明,位于20q12染色体位点的rs13041247SNP在总体汇总研究人群中与NSCL/P风险相关。尽管这种关联在东亚或高加索人群中并不显著.
Previous genome-wide association studies have identified a link between the rs13041247 single nucleotide polymorphisms (SNPs) in the chromosome 20q12 locus and the development of the congenital malformation known as nonsyndromic cleft lip with or without cleft palate (NSCL/P). The present meta-analysis was therefore designed to formally assess the relationship between rs13041247 and NSCL/P.
We searched Embase, Web of Science, PubMed, the
China National Knowledge Internet (CNKI), and the
China Wanfang database in order to identify relevant published through 25 June 2019. This allowed us to identify 13 studies incorporating 4914 patients and 5981 controls for whom rs13041247 genotyping had been conducted, with STATA 12.0 then being used to conduct a meta-analysis of these pooled results. The I2 statistic was used to compare heterogeneity among studies.
In total this analysis incorporated 13 case-control studies. No association between the rs13041247 polymorphism and NSCL/P risk was detected in individuals of Asian ethnicity (C vs T: OR = 0.847, 95% CI = 0.702-1.021; CC vs TT: OR = 0.725, 95% CI = 0.494-1.063; CC vs CT: OR = 0.837, 95% CI = 0.657-1.067; CT + TT vs CC: OR = 1.265, 95% CI = 0.951-1.684; CC + CT vs TT: OR = 0.805, 95% CI = 0.630-1.029) or Caucasian ethnicity (C vs T: OR = 0.936, 95% CI = 0.786-1.114; CC vs TT: OR = 0.988, 95% CI = 0.674-1.446; CC vs CT: OR = 1.197, 95% CI = 0.816-1.757; CT + TT vs CC: OR = 0.918, 95% CI = 0.639-1.318; CC + CT vs TT: OR = 0.855, 95% CI = 0.677-1.081). However, an overall analysis of all participants in these studies revealed the rs13041247 C allele, the CT genotype, and the CC + CT model to be linked to a reduced NSCL/P risk (C vs T: OR = 0.897, 95% CI: 0.723-1.114, P = 0.048; CT vs TT: OR = 0.839, 95% CI: 0.734-0.959, P = 0.01; CC + CT vs TT: OR = 0.824, 95% CI: 0.701-0.968, P = 0.019).
These results suggest that the rs13041247 SNP located at the 20q12 chromosomal locus is associated with NSCL/P risk in an overall pooled study population, although this association was not significant in East Asian or Caucasian populations.