关键词: IgA nephropathy gd-IgA1 glycosylation human genetics

Mesh : Adult Aged Aged, 80 and over Diseases in Twins / genetics metabolism Female Glomerulonephritis, IGA / genetics metabolism Glycosylation Humans Immunoglobulin A / metabolism Middle Aged

来  源:   DOI:10.1681/ASN.2016020184   PDF(Pubmed)

Abstract:
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.
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