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意大利大陆地区HLA-DRB1和-DQB1与经典型卡波西肉瘤的关联

Association of HLA-DRB1 and -DQB1 with Classic Kaposi's Sarcoma in Mainland Italy.

作者信息

Guerini Franca Rosa, Agliardi Cristina, Mancuso Roberta, Brambilla Lucia, Biffi Renato, Ferrucci Silvia, Zanetta Lorenzo, Zanzottera Milena, Brambati Marinella, Boneschi Vinicio, Ferrante Pasquale

机构信息

Laboratory of Molecular Medicine and Biotechnology, Don C. Gnocchi Fond. IRCCS, S. Maria Nascente, Via Capecelatro 66, 20148 Milan.

Institute of Dermatology Sciences of the University of Milan and IRCCS Ospedale Maggiore, Milan.

出版信息

Cancer Genomics Proteomics. 2006 May-Aug;3(3-4):191-196. Epub 2006 Jan 1.

PMID:31394697
Abstract

Classic Kaposi's sarcoma (CKS) is a multifocal vascular mesenchymal tumour of unknown origin. Human herpesvirus 8 (HHV8) is now considered to be strongly involved, as a necessary co-factor, though insufficient for development of the disease. Additional identified risk factors include environmental factors, personal habits and genetic susceptibility, with different loci suspected of being risk factors for CKS. Since various human leukocyte antigen (HLA) patterns have been suggested as potential host-related co-factors, the distribution of these alleles was studied in 41 CKS patients, 285 geographically-matched healthy controls (HC) and 17 HHV8-positive controls. Molecular typing of HLA was performed using the polymerase chain reaction sequence-specific primer method (SSP-PCR). Frequency distribution was evaluated by the Chi-squared test with Yates' correction. Odds ratios (OR) and respective 95% confidence limits (CI) were calculated. A significantly higher frequency of HLA-DRB113 was observed among the CKS patients (20.7%) compared to the HC (9.8%) (p<0.01; OR: 2.32; 95%CI: 1.21-4.41). Overall, these results indicated that HLA-DRB113 may play a role in the development of CKS, while HLA-DQB10604 allele involvement occurs in linkage disequilibrium with HLA-DRB113. To our knowledge, this is the first study documenting an HLA-DRB1 and -DQB1 loci association with CKS development in the mainland Italian population.

摘要

经典型卡波西肉瘤(CKS)是一种起源不明的多灶性血管间叶肿瘤。人疱疹病毒8型(HHV8)现在被认为是该病发生的一个重要相关因素,尽管它作为必要的辅助因子并不足以导致疾病的发生。其他已确定的风险因素包括环境因素、个人习惯和遗传易感性,不同的基因位点被怀疑是CKS的风险因素。由于各种人类白细胞抗原(HLA)模式已被认为是潜在的宿主相关辅助因子,因此对41例CKS患者、285例地理位置匹配的健康对照(HC)和17例HHV8阳性对照进行了这些等位基因分布的研究。采用聚合酶链反应序列特异性引物法(SSP-PCR)对HLA进行分子分型。通过Yates校正的卡方检验评估频率分布。计算优势比(OR)和各自的95%置信区间(CI)。与HC组(9.8%)相比,CKS患者中HLA-DRB113的频率显著更高(20.7%)(p<0.01;OR:2.32;95%CI:1.21-4.41)。总体而言,这些结果表明HLA-DRB113可能在CKS的发生中起作用,而HLA-DQB10604等位基因的参与与HLA-DRB113处于连锁不平衡状态。据我们所知,这是第一项记录意大利大陆人群中HLA-DRB1和-DQB1基因座与CKS发生相关的研究。

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