SNPs in PRKCA-HIF1A-GLUT1 are associated with diabetic kidney disease in a Chinese Han population with type 2

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Yan Huang1, Li Jin1, Hairong Yu2

  • 1National Clinical Research Center of Kidney Diseases, Jinling Hospital, Medical School of Nanjing University, Nanjing, China.

European Journal of Clinical Investigation
|May 13, 2020
PubMed

Insights

This study investigated single nucleotide polymorphisms (SNPs) in PRKCA, HIF1A, and GLUT1 genes and their association with diabetic kidney disease (DKD) in Chinese Han individuals. Some SNPs showed potential links to DKD and related traits.

Area of Science:

  • Genetics and Molecular Biology
  • Nephrology
  • Endocrinology

Background:

  • Diabetic kidney disease (DKD) is a major complication of diabetes mellitus.
  • Identifying genetic factors influencing DKD risk is crucial for prevention and treatment.
  • The PRKCA-HIF1A-GLUT1 pathway is implicated in metabolic processes relevant to DKD.

Purpose of the Study:

  • To explore the association between single nucleotide polymorphisms (SNPs) in the PRKCA, HIF1A, and GLUT1 genes and the prevalence of diabetic kidney disease (DKD).
  • To investigate the relationship between these genetic variants and DKD-related traits, such as estimated glomerular filtration rate (eGFR) and plasma creatinine levels.
  • To validate potential genetic associations in a separate cohort and through meta-analysis.

Main Methods:

  • A cross-sectional study of 2552 participants from Shanghai and a validation cohort of 6015 subjects from Hong Kong.
  • Genotyping was performed using MassARRAY Compact Analyzer.
  • Data analysis involved PLINK, SAS, and Haploview, including meta-analysis of case-control data.

Main Results:

  • Several SNPs in GLUT1 (rs1681851) and HIF1A (rs2301108, rs79865957) were significantly associated with DKD in the initial stage.
  • rs1681851 was also linked to plasma creatinine levels and eGFR.
  • Meta-analysis revealed no significant association between the studied SNPs and DKD, though some correlations with serum creatinine and eGFR were observed.

Conclusions:

  • The study suggests a potential association between SNPs in the PRKCA-HIF1A-GLUT1 pathway and diabetic kidney disease in the Chinese Han population.
  • Further research is needed to confirm these findings and elucidate the underlying mechanisms.
  • Genetic variations in HIF1A and GLUT1 may influence DKD susceptibility and progression.
Abstract

Keywords:
GLUT1HIF1APRKCASNPdiabetic kidney diseasetype 2 Diabetes

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