西北地区人群JAG2基因多态性与非综合征性唇腭裂的相关性研究

Association between the JAG2 gene polymorphism and the occurrence of nonsyndromic cleft lip with or without cleft palate in northwest Chinese population

目的探讨JAG2基因多态性与西北地区人群非综合征性唇腭裂(nonsyndromic cleft lip with or without cleft palate,NSCLP)的相关性。方法采用病例-对照研究方法,选取NSCLP患者301例,正常对照304人,采用iMLDR™基因分型技术对JAG2基因的3个单核苷酸多态性(single nucleotide polymorphism,SNP)位点[rs741859(T/C)、rs11621316(A/G)以及rs1057744(C/T)]进行分型,比较其等位基因、基因型及所构建的单倍型在两组人群中的分布差异。结果rs741859位点等位基因C和T在NSCLP组和对照组中的分布差异有统计学意义。rs741859位点CT基因型可将NSCLP的患病风险显著降低至65%(P<0.05),将唇裂伴或不伴腭裂(cleft lip with or without cleft palate,CL/P)的患病风险降低至62%(P<0.05);而rs11621316、rs1057744处于同一连锁不平衡(linkage disequilibrium,LD)区域,连锁程度较高(r2>0.8),其基因型、等位基因在两组中的分布差异无统计学意义(P>0.05)。结论JAG2基因rs741859位点CT基因型可能是中国西北人群NSCLP的保护性基因型。

Objective To assess the association of JAG2 gene single nucleotide polymorphisms with the occurrence of nonsyndromic cleft lip with or without cleft palate(NSCLP)among northwest Chinese population.Methods A case-control study was carried out on 301 NSCLP patients and 304 healthy controls.An iMLDR™genotyping technique was used to detect three single nucleotide polymorphisms(SNPs)[rs741859(T/C),rs11621316(A/G)and rs1057744(C/T)]of the JAG2 gene.Allelic and genotypic frequencies and haplotypic distribution among the two groups were compared.Results A significant difference was found in the frequency of C and T alleles for rs741859 between the two groups.The CT genotype of rs741859 could significantly reduce the risk for NSCLP to 65%(P<0.05)and the risk for cleft lip with or without cleft palate(CL/P)to 62%(P<0.05).rs11621316 and rs1057744 are in the same linkage disequilibrium(LD)region with a high degree of linkage(r2>0.8),whose distribution difference between the two groups was not statistically significant(P>0.05).Conclusion The CT genotype of the JAG2 gene rs741859 may confer a protective effect for NSCLP among northwest Chinese population.