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首页> 外文期刊>Hepatology: Official Journal of the American Association for the Study of Liver Diseases >Single-nucleotide polymorphism analysis of the multidrug resistance protein 3 gene for the detection of clinical progression in Japanese patients with primary biliary cirrhosis.
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Single-nucleotide polymorphism analysis of the multidrug resistance protein 3 gene for the detection of clinical progression in Japanese patients with primary biliary cirrhosis.

机译：多药耐药蛋白3基因的单核苷酸多态性分析，用于检测日本原发性胆汁性肝硬化患者的临床进展。

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摘要

Primary biliary cirrhosis (PBC) is a multifactorial disease in which genetic factors rather than environmental factors may predominantly contribute to the pathogenesis. In order to identify the genetic determinants of the disease severity and progression of PBC, we examined an association of seven tag single-nucleotide polymorphisms (SNPs) in the multidrug resistance protein 3 (MDR3/ABCB4) gene in 148 Japanese PBC patients and 150 age- and sex-matched healthy control subjects. SNPs were detected via polymerase chain reaction (PCR) restriction fragment length polymorphism and PCR direct DNA sequencing methods. Subsequently, haplotypes were constructed from three tag SNPs (rs31658, rs31672, and rs1149222) that were significantly associated with progression of PBC. Logistic regression analyses revealed that a Hap 2 haplotype and its homozygous diplotype, Hap 2/Hap 2, in MDR3 were closely associated with the susceptibility to jaundice-type progression of PBC [P = 0.004, odds ratio (OR) 3.93, 95% confidenceinterval (CI) 1.56-9.90 and P = 0.0003, OR 17.73, 95% CI 3.77-83.42, respectively]. Conversely, another haplotype, Hap 1, and its homozygous diplotype, Hap 1/Hap 1, were associated with the insusceptibility to the progression to late-stage PBC (P = 0.021, OR 0.55, 95% CI 0.33-0.91 and P = 0.011, OR 0.24, 95% CI 0.08-0.71, respectively). CONCLUSION: The present study is the first report of an association of MDR3 haplotypes and diplotypes with progression of PBC. The Hap 2/Hap 2 diplotype in MDR3 could therefore be potentially applied to DNA-based diagnosis in Japanese patients with PBC as a strong genetic biomarker for predicting the progression and prognosis of PBC.
机译：原发性胆汁性肝硬化（PBC）是一种多因素疾病，其中遗传因素而非环境因素可能主要是发病原因。为了确定疾病严重程度和PBC进程的遗传决定因素，我们检查了148位日本PBC患者和150岁年龄的多药耐药蛋白3（MDR3 / ABCB4）基因中的七个标签单核苷酸多态性（SNP）的相关性。 -和性别匹配的健康对照组。通过聚合酶链反应（PCR）限制性片段长度多态性和PCR直接DNA测序方法检测SNP。随后，从与PBC进程显着相关的三个标签SNP（rs31658，rs31672和rs1149222）构建单倍型。 Logistic回归分析显示，MDR3中的Hap 2单倍型及其纯合双倍型Hap 2 / Hap 2与PBC对黄疸型进展的敏感性密切相关[P = 0.004，优势比（OR）3.93，95％置信区间（CI）1.56-9.90和P = 0.0003，或17.73，95％CI 3.77-83.42]。相反，另一种单倍型Hap 1和其纯合双倍型Hap 1 / Hap 1与晚期PBC的进展不相关（P = 0.021，OR 0.55、95％CI 0.33-0.91和P = 0.011 ，或分别为0.24、95％CI 0.08-0.71）。结论：本研究是MDR3单倍型和双倍型与PBC进展相关的首次报道。因此，MDR3中的Hap 2 / Hap 2双型可以潜在地应用于日本PBC患者的基于DNA的诊断，作为预测PBC进程和预后的强大遗传生物标记。

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