6号染色体短臂存在银屑病易感基因的证据

Identification of a Psoriasis Susceptibility Locus on Chromosome 6p in Chinese Han Population

目的鉴定6号染色体短臂上是否存在寻常性银屑病的易感基因。方法用6号染色体短臂上的8个微卫星标记对46个寻常性银屑病家系共272个个体(包括143例患者和129例非患者)进行基因分型研究,并用Genehunter软件(2.0Version)对基因分型结果进行两点和多点参数和非参数连锁分析。结果①两点连锁分析非参数连锁分析揭示3个相邻的标记D6S276、D6S1610和D6S1575的NPL值分别为2.69、3.58和2.84,对应的P值分别为0.0048、0.0006和0.0033;参数分析在D6S1610位点处得出HLOD=4.01和较高的连锁家系比例α=70%。②多点连锁分析在44.9-62.3cM的染色体区域内,非参数连锁分析的NPL值均>3,D6S276(44.9cM)、D6S1610(53.9cM)和D6S1575(62.3cM)均位于这个范围内,其中在D6S1610处NPL值达到最高为4.11,对应的P值为0.0002;参数分析在D6S1610处,得出多点分析的HLOD峰值为3.17,连锁家系比例为60%。结论6号染色体短臂上存在寻常性银屑病的易感基因。

Objective To identify a psoriasis susceptibility locus on chromosome6p in Chinese Han population.Methods Eight microsatellite markers were applied on chromosome6p in46Chinese Han fami-lies,comprising143affected and129unaffected individuals.The two-point and multi-point parametric and non-parametric linkage analyses were performed with Genehunter.Results①Two-point linkage analyses:non-parametric linkage analysis revealed that there was a significant linkage at three adjacent loci D6S276,D6S1610and D6S1575,with the NPL-scores of2.69,3.58,and2.84,and P values of0.0048,0.0006and0.0033,respectively,and parametric linkage analysis revealed a heterogeneity LOD score of4.01and the high proportion of linked families of70%at D6S1610.②Multi-point linkage analyses:non-parametric linkage anal-ysis showed that there was a putative peak of NPL scores>3in the range of44.9-62.3cM which included3adjacent loci,D6S276,D6S1610,and D6S1575.Locus D6S1610gave the maximum NPL score of4.11with the corresponding P value of0.0002.There was also a maximum multi-point HLOD score of3.17(α=60%)at D6S1610.Conclusion Chromosome6p contains genes involved in the susceptibility to psoriasis vulgaris in Chinese Han population.