ST6GAL1 polymorphisms influence susceptibility and progression of IgA nephropathy in a Chinese Han population

Immunobiology. 2020 Jul;225(4):151973. doi: 10.1016/j.imbio.2020.151973. Epub 2020 Jun 8.


Background: ST6GAL1 has been identified as a novel susceptibility gene for IgA nephropathy (IgAN) in a previous genome-wide association study. The present study is aimed at exploring whether the genetic polymorphisms of ST6GAL1 gene correlate with IgAN susceptibility, clinical phenotypes and progression in a Chinese Han population.

Methods: Twenty-six single nucleotide polymorphisms (SNPs) of ST6GAL1 were genotyped in 1000 biopsy-proven IgAN patients and 1000 control subjects of Chinese Han population using Sequenom MassARRAY iPLEX. A logistic regression analysis with age and sex as covariates was performed to evaluate the effects of ST6GAL1 gene polymorphisms on IgAN susceptibility. Kaplan-Meier method and Cox proportional hazard models were applied to analyze the associations between genetic variants and renal survival.

Results: We found that rs7634389 (OR = 1.24, 95 % CI = 1.02-1.50, pdominant = 0.034) and rs6784233 (OR = 1.23, 95 % CI = 1.05-1.45, padditive = 0.013; OR = 1.28, 95 % CI = 1.05-1.55, pdominant = 0.014) were associated with susceptibility of IgAN. In addition, rs7634389 was correlated with hyperuricemia (OR = 1.27, p = 0.012) and segmental glomerulosclerosis (OR = 1.21, p = 0.047) in IgAN patients. Furthermore, rs7634389 was independently associated with renal survival after adjustments for multiple confounders (hazard ratio [HR] = 0.51, 95 % CI = 0.33-0.78, p = 0.002). Haplotype analysis for ST6GAL1 polymorphisms confirmed their associations with the susceptibility to IgAN.

Conclusions: Our research suggested that ST6GAL1 gene polymorphisms were implicated in IgAN susceptibility and clinical outcome in a Chinese Han population.

Keywords: Case-control study; Clinical outcome; IgA nephropathy; ST6GAL1; Single nucleotide polymorphisms.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antigens, CD / genetics*
  • Case-Control Studies
  • Disease Progression
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Glomerulonephritis, IGA / diagnosis*
  • Glomerulonephritis, IGA / etiology*
  • Glomerulonephritis, IGA / metabolism
  • Humans
  • Kaplan-Meier Estimate
  • Odds Ratio
  • Polymorphism, Single Nucleotide*
  • Prognosis
  • Proportional Hazards Models
  • Sialyltransferases / genetics*


  • Antigens, CD
  • Sialyltransferases
  • ST6GAL1 protein, human