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首页> 外文期刊>International journal of immunogenetics >The involvement of the HLA-DQB1 alleles in the risk and the severity of Iranian coeliac disease patients
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The involvement of the HLA-DQB1 alleles in the risk and the severity of Iranian coeliac disease patients

机译：HLA-DQB1等位基因参与伊朗腹腔疾病患者的风险和严重程度

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摘要

Coeliac disease (CD) is a highly prevalent autoimmune disorder that is triggered by the ingestion of wheat gluten and related proteins in genetically susceptible individuals. The CD is associated with human leucocyte antigen (HLA) genes particularly with HLA-DQ alleles encoding HLA-DQ2 and DQ8 proteins. To define risk and severity alleles for CD, a total of 120 definite CD patients and 100 healthy controls were genotyped for HLA-DQB1 gene. HLA-DQB1 genotyping was performed in all patients and controls using PCR-SSP technique, and to evaluate the clinical relevance of testing for HLA-DQB1 and determining absolute risk of disease, prevalence-corrected positive predictive value and prevalence-corrected negative predictive value (PcPPV and PcNPV) were calculated. Our results for a first time show that DQB1*02:00 and DQB1*03:02 alleles and DQB1*02:01/03:02 genotype very significantly associated with increased risk of patients with CD, and DQB1*03:01,4 allele provides protection against CD in Iranian patients. Furthermore, the PcPPV for DQB*02:01 and 03:02 alleles in CD were 0.014 and 0.012, respectively, and the highest absolute risk presented by DQB*0201/0302 genotype (PcPPV = 0.079) and 98% of patients with CD carried DQB1*02:01/x or DQB1*03:02/x genotype. The results also clearly demonstrated that the DQB1*02:01 allele significantly associated with severity of CD, while DQB1*03:02 allele associated with mild form of CD. These results suggest that clinically suspected individuals for CD and first-degree relatives of patients with CD to be screened for HLA-DQB*0201 and DQB*0302 alleles for possible early diagnosis and treatments.
机译：乳糜泻（CD）是一种高度流行的自身免疫性疾病，由遗传易感个体中的小麦面筋和相关蛋白的摄入引起。 CD与人类白细胞抗原（HLA）基因相关，尤其与编码HLA-DQ2和DQ8蛋白的HLA-DQ等位基因相关。为了确定CD的风险和严重性等位基因，对120名明确的CD患者和100名健康对照进行了HLA-DQB1基因分型。使用PCR-SSP技术对所有患者和对照进行HLA-DQB1基因分型，以评估HLA-DQB1检测和确定疾病的绝对风险，患病校正的阳性预测值和患病校正的阴性预测值的临床相关性（计算PcPPV和PcNPV）。我们的结果首次显示，DQB1 * 02：00和DQB1 * 03：02等位基因以及DQB1 * 02：01/03：02基因型与CD患者和DQB1 * 03：01,4患病风险增加非常相关等位基因为伊朗患者的CD提供了保护。此外，CD中DQB * 02：01和03:02等位基因的PcPPV分别为0.014和0.012，由DQB * 0201/0302基因型（PcPPV = 0.079）和98％的CD患者携带的绝对风险最高DQB1 * 02：01 / x或DQB1 * 03：02 / x基因型。结果还清楚地表明，DQB1 * 02：01等位基因与CD的严重程度显着相关，而DQB1 * 03：02等位基因与CD的轻度相关。这些结果表明，对患有CD的临床可疑个体和患有CD的患者的一级亲属进行筛查HLA-DQB * 0201和DQB * 0302等位基因，以便可能的早期诊断和治疗。

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