Lomax-Browne Hannah J, Visconti Alessia, Pusey Charles D, Cook H Terence, Spector Tim D, Pickering Matthew C, Falchi Mario
Centre for Complement and Inflammation Research, and.
Department of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom.
J Am Soc Nephrol. 2017 Jan;28(1):64-68. doi: 10.1681/ASN.2016020184. Epub 2016 Jun 16.
IgA nephropathy (IgAN) is the most common form of primary GN and an important cause of kidney failure. Characteristically, patients with IgAN have increased serum levels of undergalactosylated IgA1 (gd-IgA1). To assess the degree to which serum gd-IgA1 levels are genetically determined in healthy individuals, we determined serum IgA and gd-IgA1 levels by ELISA in a sample of 148 healthy female twins, including 27 monozygotic and 47 dizygotic pairs. Using the classic twin model, we found the heritability of serum gd-IgA1 and IgA levels to be 80% (95% confidence interval, 66% to 89%) and 46% (95% confidence interval, 15% to 69%), respectively. These data indicate that serum gd-IgA1 levels are highly heritable. Elucidating the genetic basis of this heritability will be important in understanding the pathogenesis of IgAN.
IgA肾病(IgAN)是原发性肾小球肾炎最常见的形式,也是肾衰竭的重要原因。典型的是,IgAN患者血清中低半乳糖基化IgA1(gd-IgA1)水平升高。为了评估健康个体中血清gd-IgA1水平受遗传决定的程度,我们通过酶联免疫吸附测定法(ELISA)测定了148名健康女性双胞胎(包括27对同卵双胞胎和47对异卵双胞胎)样本中的血清IgA和gd-IgA1水平。使用经典双胞胎模型,我们发现血清gd-IgA1和IgA水平的遗传度分别为80%(95%置信区间为66%至89%)和46%(95%置信区间为15%至69%)。这些数据表明血清gd-IgA1水平具有高度遗传性。阐明这种遗传性的遗传基础对于理解IgAN的发病机制至关重要。