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C-reactive protein polymorphism and serum levels as an independent risk factor in sickle cell disease.

机译:C反应蛋白多态性和血清水平是镰状细胞疾病的独立危险因素。

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摘要

This study explored the relationship of a dinucleotide repeat polymorphism in the intron of the CRP gene and serum CRP levels as independent risk factors for end-organ dysfunction (mild vs. severe) in adults with sickle cell disease. The pathogenesis of secondary complications of sickle cell disease is complex and poorly understood. Predicting the severity of these complications could assist in therapeutic decision-making.;The study measured serum CRP levels and the number of CA intron repeats located on the CRP gene in 29 adults (31.74 +/- 11.54 years) with sickle cell disease The hemoglobin genotypes were distributed as Hgb SS 48.6% (17 of n = 29), Hgb SC 20.0% (7 of n = 29), Sbeta° 10.3% (3 of n = 29), and Sbeta+ 6.9% (2 of n = 29). The sample was categorized as mild (n = 9) no end-organ dysfunction vs. severe (n = 21) documented end-organ dysfunction. The severe group was sub-categorized by specific organ dysfunctions, 9 with pulmonary hypertension, 6 with renal dysfunction and 6 with cerebral vascular accident. Examination of serum CRP levels found no significant association with severe end-stage organ dysfunction. There was no significant association between serum CRP level and the polymorphism. However, a significant negative correlation (rho = -0.401, p = 0.031) was found between glomerular filtration rates and CAhigh repeats (≥17).;Previous studies have found an association of genetic variations in the CRP gene polymorphism to serum CRP levels. While this pilot study found no evidence of this association, the findings provide some rationale for further investigation of the repeat polymorphism in the CRP gene and its association with renal end-organ dysfunction.
机译:这项研究探讨了CRP基因内含子中的二核苷酸重复多态性与血清CRP水平之间的关系,作为镰状细胞病成人终末器官功能障碍(轻度或重度)的独立危险因素。镰状细胞病继发性并发症的发病机理是复杂的,人们对此知之甚少。预测这些并发症的严重程度可有助于做出治疗决策。该研究测量了29名镰状细胞病成人(31.74 +/- 11.54岁)的血清CRP水平和位于CRP基因上的CA内含子重复序列的数量基因型分布为Hgb SS 48.6%(n = 29的17),Hgb SC 20.0%(n = 29的7),Sbeta°10.3%(n = 29的3)和Sbeta + 6.9%(n = 29的2) )。样本被分类为轻度(n = 9)没有终末器官功能障碍,而重度(n = 21)被记录为终末器官功能障碍。严重组按特定器官功能障碍进行分类,其中9例患有肺动脉高压,6例患有肾功能障碍,6例患有脑血管意外。血清CRP水平的检查与严重的晚期器官功能障碍没有显着相关性。血清CRP水平与多态性之间无显着关联。然而,发现肾小球滤过率和CAhigh重复次数(≥17)之间存在显着的负相关性(rho = -0.401,p = 0.031)。先前的研究发现CRP基因多态性的遗传变异与血清CRP水平相关。尽管该初步研究没有发现这种关联的证据,但这些发现为进一步研究CRP基因中的重复多态性及其与肾脏终末器官功能障碍的关联提供了一些理论依据。

著录项

  • 作者

    Chismark, Elisabeth A.;

  • 作者单位

    The University of Tennessee Health Science Center.;

  • 授予单位 The University of Tennessee Health Science Center.;
  • 学科 Biology Genetics.;Health Sciences Nursing.
  • 学位 Ph.D.
  • 年度 2008
  • 页码 112 p.
  • 总页数 112
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类
  • 关键词

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