Searching for psoriasis susceptibility genes in Italy: Genome scan and evidence for a new locus on chromosome 1
Searching for psoriasis susceptibility genes in Italy: Genome scan and evidence for a new locus on chromosome 1
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DOI：
10.1046/j.1523-1747.1999.00471.x
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发表时间：
1999-01-01
影响因子：
6.5
通讯作者：
Dallapiccola, B
中科院分区：
文献类型：
--
作者：
Capon, F;Novelli, G;Dallapiccola, B
牛皮癣是一种慢性炎症性皮炎，影响约2%的人口。主要临床特征包括头皮、肘部和膝盖出现红色鳞状斑块，伴或不伴严重关节炎。通过参数和非参数连锁分析，几个假定的易感位点被定位到染色体区域2p、4q、6p、8q、16q、17q和20p；然而，目前最显著的结果和连锁的确认仅针对17q和6p染色体区域。在这项研究中，利用一组四颗微卫星调查了22个多重意大利家族与6p和17q易感区域的联系。这些分析未能检测到与任何检查标记的显著联系。然后对其中一个最大的家系进行全基因组扫描，寻找额外的易感位点。本研究揭示了与染色体1cn -q21标记的推测联系。当这些微卫星在样本的其余家族中进行分析时，使用参数和非参数方法观察到显著的联系。D1S305标记获得最高的两点负荷评分值（3.75,θ = 0.05）。该位点的非参数分析也显示等位基因共享显著过剩（p = 0.0001）。
Psoriasis is a chronic inflammatory dermatitis, affecting approximate to 2% of the population. Major clinical features include red, scaly patches on scalp, elbows, and knees, with or without severe arthritis. Several putative susceptibility loci have been mapped by parametric and non-parametric linkage analysis to chromosome regions 2p, 4q, 6p, 8q, 16q, 17q, and 20p; however, the most significant results and confirmation of linkage are only available for the 17q and 6p chromosome regions at present. In this study, 22 multiplex Italian families were investigated for linkage to 6p and 17q susceptibility regions, using a set of four microsatellites. These analyses failed to detect significant linkage with any of the examined markers. A genome-wide scan was then performed on one of the largest pedigrees, searching for an additional susceptibility locus. This study disclosed a putative linkage to chromosome 1cen-q21 markers. When these microsatellites were analyzed in the remaining families of the sample, a significant linkage was observed using both parametric and non-parametric methods. The highest two-point lod score value was obtained with D1S305 marker (3.75 at theta = 0.05). Non-parametric analysis at this locus also demonstrated a significant excess of allele sharing (p = 0.0001).