Welch T R, Beischel L, Balakrishnan K, Quinlan M, West C D
N Engl J Med. 1986 Jun 5;314(23):1476-81. doi: 10.1056/NEJM198606053142303.
Membranoproliferative glomerulonephritis is often associated with evidence of immune derangement, especially hypocomplementemia. We studied genetic markers for membranoproliferative glomerulonephritis within the major histocompatibility complex in 34 patients and their families and in 29 normal families. We examined the frequencies of extended haplotypes (combinations of alleles that tend to occur together) in patients and controls. The extended haplotype HLA-B8,DR3,SC01,GLO2(glyoxalase I 2) was observed in 9 of 68 disease-associated haplotypes (13 percent), but in only 3 of 205 controls (1 percent) (relative risk, 14.79; P less than 0.001). An extended haplotype similar except for a different glyoxalase allotype (B8,DR3,SC01,GLO1) did not occur with increased frequency, nor did any other extended haplotypes. Patients with the extended haplotype B8,DR3,SC01,GLO2 had a higher incidence of renal insufficiency than those without it (P less than 0.01). The data support the hypothesis that a specific extended haplotype of the major histocompatibility complex is associated with susceptibility to membranoproliferative glomerulonephritis, and that patients with glomerulonephritis who have this extended haplotype have a poorer prognosis for kidney survival than those without the haplotype.
膜增生性肾小球肾炎常伴有免疫紊乱的证据,尤其是低补体血症。我们在34例患者及其家族以及29个正常家族中研究了主要组织相容性复合体内膜增生性肾小球肾炎的遗传标记。我们检测了患者和对照中扩展单倍型(倾向于一起出现的等位基因组合)的频率。扩展单倍型HLA - B8、DR3、SC01、GLO2(乙二醛酶I 2)在68个疾病相关单倍型中的9个中出现(13%),但在205个对照中仅3个出现(1%)(相对风险为14.79;P小于0.001)。除乙二醛酶别型不同外(B8、DR3、SC01、GLO1)的类似扩展单倍型并未以增加的频率出现,其他扩展单倍型也未出现。具有扩展单倍型B8、DR3、SC01、GLO2的患者肾功能不全的发生率高于没有该单倍型的患者(P小于0.01)。这些数据支持这样的假设,即主要组织相容性复合体的特定扩展单倍型与膜增生性肾小球肾炎的易感性相关,并且患有这种扩展单倍型的肾小球肾炎患者肾脏存活的预后比没有该单倍型的患者更差。