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镰状细胞贫血患儿骨髓炎的HLA-II类易感和保护单倍型证据。

Evidence for HLA class II susceptible and protective haplotypes for osteomyelitis in pediatric patients with sickle cell anemia.

作者信息

Al-Ola K, Mahdi N, Al-Subaie A M, Ali M E, Al-Absi I K, Almawi W Y

机构信息

Department of Pediatrics, Salmaniya Medical Complex, Manama, Bahrain.

出版信息

Tissue Antigens. 2008 May;71(5):453-7. doi: 10.1111/j.1399-0039.2008.01012.x. Epub 2008 Feb 28.

DOI:10.1111/j.1399-0039.2008.01012.x
PMID:18312480
Abstract

We investigated the association of human leukocyte antigen (HLA) class II alleles and haplotypes with the pathogenesis of sickle cell anemia (SCA) osteomyelitis. SCA patients comprised 42 patients with osteomyelitis and 150 patients without osteomyelitis; HLA-DRB1* and HLA-DQB1* genotyping was performed by polymerase chain reaction-sequence-specific priming (SSP). DRB1100101 (P value corrected for the number of different alleles tested, Pc=0.003) was positively associated with osteomyelitis. At the haplotype level, DRB1100101-DQB1050101 (Pc=0.001) was more prevalent among patients, while DRB1030101-DQB10201 (Pc=0.020) and DRB1040101-DQB1*0302 (Pc=0.039) were more prevalent among SCA controls, thereby conferring disease susceptibility or protection to these haplotypes, respectively. These results show that specific HLA haplotypes influence SCA osteomyelitis risk and that specific HLA types may serve as markers for identifying SCA patients at high risk for osteomyelitis.

摘要

我们研究了人类白细胞抗原(HLA)II类等位基因和单倍型与镰状细胞贫血(SCA)性骨髓炎发病机制之间的关联。SCA患者包括42例骨髓炎患者和150例无骨髓炎患者;通过聚合酶链反应-序列特异性引物法(SSP)进行HLA-DRB1和HLA-DQB1基因分型。DRB1100101(经测试的不同等位基因数量校正后的P值,Pc = 0.003)与骨髓炎呈正相关。在单倍型水平上,DRB1100101-DQB1050101(Pc = 0.001)在患者中更为普遍,而DRB1030101-DQB10201(Pc = 0.020)和DRB1040101-DQB1*0302(Pc = 0.039)在SCA对照中更为普遍,从而分别赋予这些单倍型疾病易感性或保护性。这些结果表明,特定的HLA单倍型会影响SCA性骨髓炎的风险,并且特定的HLA类型可能作为识别SCA骨髓炎高危患者的标志物。

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