PVRL2的SNPs与非综合征性唇腭裂相关性分析

Association of single nucleotide polymorphisms in PVRL2 genes with nonsyndromic cleft lip with or without cleft palate in Chinese patients

目的探讨核心家庭中脊髓灰质炎病毒受体相关2(PVRL2)基因SNP位点突变与非综合征性唇腭裂(NSCL/P)的关系。方法用基因芯片技术检测50例华东地区核心家庭的PVRL2基因SNP位点(rs2075642)的突变情况。设计病例对照和核心家庭对照,用医学统计学方法,比较突变位点在患儿与正常儿童中的分布情况,比较患儿组与父母组的基因型和等位基因频率,并对核心家庭的数据进行单倍型相对风险分析(HTRR),对含杂合子父母的核心家庭进行传递不平衡检验(TDT)。结果PVRL2的rs2075642位点突变在患儿与正常儿童中的分布差异有统计学意义,患儿与其父母各位点基因型和等位基因分布差异无统计学意义(P>0.05),HTRR结果有统计学意义,TDT结果无统计学意义。结论PVRL2的rs2075642位点突变可能与中国华东人群非综合征性唇腭裂存在相关性。

Objective To explore the relationship between single nucleotide polymorphisms in PVRL2 and nonsyndromic cleft lip with or without cleft palate （NSCL/P）. Methods The mutation in PVRL2 （rs2075642） was detected using microarray technology in 50 nuclear families from southeast China for predicting mutation frequency of amino acid, comparing the distributional difference of affected offspring and unimpaired child and judging that if it has the statistical significance. The genetype and allele frequency in affected offspring and fathers were compared. Haplotype relative risk （HTRR） and transmission disequilibrium test （TDT） were performed. Results The mutation in PVRL2 （rs2075642） had significant difference in genotypes and alleles distribution between the patients and normal subjects. No significant differences in genotypes and alleles distribution between the patients and their parents were found. The result of HTRR analysis was positive and that of TDT analysis was negative. Conclusion There may have some relationship between the mutation in PVRL2 （rs2075642）and NSCL/P in the population of southeast China.