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Genetic polymorphisms of HbE/beta thalassemia related to clinical presentation: implications for clinical diversity.
Annals of Hematology ( IF 3.5 ) Pub Date : 2020-02-20 , DOI: 10.1007/s00277-020-03927-5
Nurul Fatihah Azman 1 , Wan Zaidah Abdullah 2 , Sarifah Hanafi 1 , R Diana 1 , Rosnah Bahar 2 , Muhammad Farid Johan 2 , Bin Alwi Zilfalil 3 , Rosline Hassan 2
Affiliation  

HbE/Beta thalassemia (HbE/β-thalassemia) is one of the common genetic disorders in South East Asia. It is heterogeneous in its clinical presentation and molecular defects. There are genetic modifiers which have been reported to influence the disease severity of this disorder. The aim of this study was to determine the genetic polymorphisms which were responsible for the disease clinical diversity. A case-control study was conducted among Malay transfusion-dependent HbE/β-thalassemia patients. Patients who were confirmed HbE/β-thalassemia were recruited and genotyping study was performed on these subjects. Ninety-eight patients were selected and divided into moderate and severe groups based on clinical parameters using Sripichai scoring system (based on hemoglobin level, spleen size, growth development, the age of first transfusion and age of disease presentation). Forty-three (44.9%) and 55 (56.1%) patients were found to have moderate and severe clinical presentation, respectively. Genotyping analysis was performed using Affymetrix 6.0 microarray platform. The SNPs were filtered using PLINK and Manhattan plot by R software. From the GWAS results, 20 most significant SNPs were selected based on disease severity when compared between moderate and severe groups. The significant SNPs found in this study were mostly related to thalassemia complications such as rs7372408, associated with KCNMB2-AS1 and SNPs associated with disease severity. These findings could be used as genetic predictors in managing patients with HbE/β-thalassemia and served as platform for future study.

中文翻译:

HbE /β地中海贫血的遗传多态性与临床表现有关:对临床多样性的影响。

HbE /β地中海贫血(HbE /β地中海贫血)是东南亚常见的遗传性疾病之一。它的临床表现和分子缺陷是异质的。据报道,有遗传修饰物会影响这种疾病的严重程度。这项研究的目的是确定造成该疾病临床多样性的遗传多态性。在马来输血依赖型HbE /β地中海贫血患者中进行了病例对照研究。招募了确认为HbE /β地中海贫血的患者,并对这些受试者进行了基因分型研究。根据临床参数,使用Sripichai评分系统(基于血红蛋白水平,脾脏大小,生长发育,首次输血的年龄和疾病表现的年龄)。发现分别有43(44.9%)和55(56.1%)位患者具有中度和重度临床表现。使用Affymetrix 6.0微阵列平台进行基因分型分析。使用RLINK软件使用PLINK和Manhattan绘图对SNP进行过滤。从GWAS结果中,根据中,重度人群的疾病严重程度,选择了20个最重要的SNP。在这项研究中发现的重要SNP主要与地中海贫血并发症有关,例如与KCNMB2-AS1相关的rs7372408和与疾病严重程度相关的SNP。这些发现可作为治疗HbE /β地中海贫血患者的遗传预测指标,并可作为未来研究的平台。发现1%)患者分别具有中度和重度临床表现。使用Affymetrix 6.0微阵列平台进行基因分型分析。使用RLINK软件使用PLINK和Manhattan绘图对SNP进行过滤。从GWAS结果中,根据中,重度人群的疾病严重程度,选择了20个最重要的SNP。在这项研究中发现的重要SNP主要与地中海贫血并发症有关,例如与KCNMB2-AS1相关的rs7372408和与疾病严重程度相关的SNP。这些发现可作为治疗HbE /β地中海贫血患者的遗传预测指标,并可作为未来研究的平台。发现1%)患者分别具有中度和重度临床表现。使用Affymetrix 6.0微阵列平台进行基因分型分析。使用RLINK软件使用PLINK和Manhattan绘图对SNP进行过滤。从GWAS结果中,根据中,重度人群的疾病严重程度,选择了20个最重要的SNP。在这项研究中发现的重要SNP主要与地中海贫血并发症有关,例如与KCNMB2-AS1相关的rs7372408和与疾病严重程度相关的SNP。这些发现可作为治疗HbE /β地中海贫血患者的遗传预测指标,并可作为未来研究的平台。使用RLINK软件使用PLINK和Manhattan绘图对SNP进行过滤。从GWAS结果中,根据中,重度人群的疾病严重程度,选择了20个最重要的SNP。在这项研究中发现的重要SNP主要与地中海贫血并发症有关,例如与KCNMB2-AS1相关的rs7372408和与疾病严重程度相关的SNP。这些发现可作为治疗HbE /β地中海贫血患者的遗传预测指标,并可作为未来研究的平台。使用RLINK软件使用PLINK和Manhattan绘图对SNP进行过滤。从GWAS结果中,在中度和重度组之间进行比较时,根据疾病严重程度选择了20个最重要的SNP。在这项研究中发现的重要SNP主要与地中海贫血并发症有关,例如与KCNMB2-AS1相关的rs7372408和与疾病严重程度相关的SNP。这些发现可作为治疗HbE /β地中海贫血患者的遗传预测指标,并可作为未来研究的平台。与KCNMB2-AS1相关,SNP与疾病严重程度相关。这些发现可作为治疗HbE /β地中海贫血患者的遗传预测指标,并可作为未来研究的平台。与KCNMB2-AS1相关,SNP与疾病严重程度相关。这些发现可作为治疗HbE /β地中海贫血患者的遗传预测指标,并可作为未来研究的平台。
更新日期:2020-02-20
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