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Lack of association between NPHS2 gene polymorphisms and Henoch-Sch?nlein purpura nephritis

机译:NPHS2基因多态性与过敏性紫癜性肾炎之间缺乏关联

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摘要

Henoch-Sch?nlein purpura (HSP) is one of the most common forms of small-vessel vasculitis in childhood, and renal involvement (HSP nephritis, HSPN) is the main determinant of morbidity after acute phase. Considering the racial diversity and clinical heterogeneity in the prevalence, genetic factors might play a role in pathogenesis of HSP and HSPN. Direct sequencing was performed after PCR amplification of all 8 exons of the NPHS2 gene in 20 Chinese children with HSPN and 30 controls in present study. The genetic analyses revealed 3 polymorphisms (954T > C heterozygous, 1038A > G heterozygous and homozygous, all in exon 8) in 7 out of 20 patients studied, but there was no significant difference in the genotypic and allelic frequencies of these polymorphisms between the patients and controls. The result did not support the possible role of the NPHS2 gene in susceptibility to HSPN in the population studied. Studies in a larger sample population with different genetic backgrounds will be necessary in the future.
机译:过敏性紫癜(HSP)是儿童期最常见的小血管性血管炎之一,而肾脏受累(HSP肾炎,HSPN)是急性期发病率的主要决定因素。考虑到流行的种族多样性和临床异质性,遗传因素可能在HSP和HSPN的发病机理中起作用。在本研究中,对20名中国HSPN儿童和30名对照进行PCR扩增后,对所有8个NPHS2基因外显子进行PCR扩增后进行直接测序。遗传分析显示,在20名患者中,有7名患者有3种多态性(954T> C杂合,1038A> G杂合和纯合,均在第8外显子中存在),但这些多态性的基因型和等位基因频率在患者之间没有显着差异和控件。该结果不支持NPHS2基因在研究人群中对HSPN易感性中的可能作用。将来有必要在具有不同遗传背景的更大样本人群中进行研究。

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  • 来源
    《Archives of Dermatological Research》 |2007年第3期|151-155|共5页
  • 作者单位

    Department of Epidemiology Zhejiang University School of Medicine Hangzhou 310031 Zhejiang Province People’s Republic of China;

    Department of Surgery 117th Hospital of People’s Liberation Army No. 40 Airport Road Hangzhou 310004 Zhejiang Province People’s Republic of China;

    Department of Nephrology The Children’s Hospital of Zhejiang University School of Medicine Hangzhou 310006 Zhejiang Province People’s Republic of China;

    Department of Pathology The Children’s Hospital of Zhejiang University School of Medicine Hangzhou 310006 Zhejiang Province People’s Republic of China;

    Department of Nephrology The Children’s Hospital of Zhejiang University School of Medicine Hangzhou 310006 Zhejiang Province People’s Republic of China;

    Department of Nephrology The Children’s Hospital of Zhejiang University School of Medicine Hangzhou 310006 Zhejiang Province People’s Republic of China;

    Department of Nephrology The Children’s Hospital of Zhejiang University School of Medicine Hangzhou 310006 Zhejiang Province People’s Republic of China;

    Department of Nephrology The Children’s Hospital of Zhejiang University School of Medicine Hangzhou 310006 Zhejiang Province People’s Republic of China;

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  • 正文语种 eng
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  • 关键词

    Henoch-Sch?nlein Purpura nephritis; Disease susceptibility; NPHS2 polymorphism; Haplotype associations;

    机译:过敏性紫癜性肾炎;疾病易感性;NPHS2多态性;单倍型关联;

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