烟酰胺腺嘌呤二核苷酸磷酸（NAD(P)H）氧化酶的p22（吞噬细胞氧化酶）成分的基因变异与IgA肾病的发病率及进展之间无关联。

No association between a genetic variant of the p22(phox) component of NAD(P)H oxidase and the incidence and progression of IgA nephropathy.

作者信息

Wolf Gunter, Panzer Ulf, Harendza Sigrid, Wenzel Ulrich, Stahl Rolf A K

机构信息

Department of Medicine, Division of Nephrology and Osteology, University of Hamburg, Hamburg, Germany.

出版信息

Nephrol Dial Transplant. 2002 Aug;17(8):1509-12. doi: 10.1093/ndt/17.8.1509.

DOI:10.1093/ndt/17.8.1509

PMID:12147803

Abstract

BACKGROUND

The course of glomerulonephritis varies even within the same histological entity, which suggest that genetic factors determine the progression of inflammatory renal diseases. We studied a potential relationship between the C242T gene polymorphism of p22(phox), a subunit of the NAD(P)H oxidase, and frequency as well as progression of immunoglobulin A (IgA) nephropathy. Patients with lupus nephritis were also investigated. The distribution of the C242T gene variation of p22(phox) has not been previously studied in patients with renal disease.

METHODS

Patients with IgA nephropathy were from a homogenous ethnic group of patients living in Northern Germany (n=127). Patients with active lupus nephritis WHO classes III/IV (n=46) were also studied. All diagnoses were confirmed by renal biopsy. Healthy blood donors (n=151) exhibited a genotype distribution similar to previously reported values for Caucasians (CC, 41.2%; CT, 45%; TT, 13.8%). However, C242T genotype distribution was not significantly different (chi(2) test) in patients with IgA nephropathy (CC, 44.9%; CT, 48%; TT, 7.1%) or in active lupus nephritis (CC, 54.3%; CT, 34.7%; TT, 11%). Grouping of IgA nephropathy patients as those with mild renal impairment at the time of biopsy (serum creatinine <1.3 mg/dl) and those with more severe renal failure (serum creatinine >1.3 mg/dl) also failed to show a relationship with p22(phox) polymorphism. Log-rank analysis for up to 15 years in selected cases of IgA nephropathy did not show a significant difference in renal survival rate among the three genotypes.

CONCLUSIONS

It appears that the C242T polymorphism is not associated with IgA nephropathy or active lupus nephritis and may not affect the progressive deterioration of renal function in patients with IgA nephropathy. However, whether the C242T polymorphism plays a role in other renal diseases remains to be studied.

摘要

背景

即使在同一组织学类型中，肾小球肾炎的病程也有所不同，这表明遗传因素决定了炎症性肾脏疾病的进展。我们研究了烟酰胺腺嘌呤二核苷酸磷酸（NAD(P)H）氧化酶亚基p22(phox)的C242T基因多态性与免疫球蛋白A（IgA）肾病的发生率及进展之间的潜在关系。同时也对狼疮性肾炎患者进行了调查。此前尚未对肾病患者中p22(phox)的C242T基因变异分布进行研究。

方法

IgA肾病患者来自德国北部一个种族同质的患者群体（n = 127）。还对活动性WHO III/IV级狼疮性肾炎患者（n = 46）进行了研究。所有诊断均经肾活检证实。健康献血者（n = 151）的基因型分布与先前报道的高加索人值相似（CC，41.2%；CT，45%；TT，13.8%）。然而，IgA肾病患者（CC，44.9%；CT，48%；TT，7.1%）或活动性狼疮性肾炎患者（CC，54.3%；CT，34.7%；TT，11%）的C242T基因型分布无显著差异（卡方检验）。将IgA肾病患者分为活检时轻度肾功能损害（血清肌酐<1.3 mg/dl）和重度肾衰竭（血清肌酐>1.3 mg/dl）两组，也未显示出与p22(phox)多态性的关系。对部分IgA肾病病例进行长达15年的对数秩分析，结果显示三种基因型的肾脏存活率无显著差异。