Genetic variation of a collagen IV alpha 1-chain gene polymorphism in Danish insulin-dependent diabetes mellitus (IDDM) patients: lack of association to nephropathy and proliferative retinopathy

Diabet Med. 1997 Feb;14(2):143-7. doi: 10.1002/(SICI)1096-9136(199702)14:2<143::AID-DIA316>3.0.CO;2-R.

Abstract

In insulin-dependent (Type 1) diabetes mellitus (IDDM) the development of nephropathy is partly due to genetic susceptibility. Previously one study has demonstrated a relationship between a HindIII restriction polymorphism of the collagen IV alpha 1-chain gene and diabetic nephropathy. The aim of the present study was to evaluate such as association in a case-control study including 207 Danish IDDM patients: 116 with nephropathy (urinary albumin excretion rate (AER) > 300 mg 24 h-1) and 91 without nephropathy (AER < 30 mg 24 h-1). Using genomic DNA, HindIII restriction fragment length analysis revealed a bi allele polymorphism visualized by southern hybridization with a cDNA probe recognizing the collagen IV alpha 1-chain gene. No differences in genotype frequencies or allele frequencies were demonstrated comparing patients with and without nephropathy: p = 0.39 and p = 0.96, respectively. Neither were there any difference in genotype frequencies or allele frequencies when the patients were stratified according to the presence of proliferative retinopathy: p = 0.44 and p = 0.84, respectively. Pooling the diabetic groups revealed genotype frequencies and allele frequencies comparable to those found in 57 healthy unrelated Danish individuals. We conclude that in a Danish IDDM population a HindIII restriction polymorphism of the collagen IV alpha 1-chain gene is not associated with diabetic nephropathy, diabetic retinopathy or with diabetes per se.

MeSH terms

  • Adult
  • Albuminuria
  • Alleles
  • Collagen / genetics*
  • Denmark / epidemiology
  • Diabetes Mellitus, Type 1 / epidemiology
  • Diabetes Mellitus, Type 1 / genetics*
  • Diabetes Mellitus, Type 1 / physiopathology
  • Diabetic Nephropathies / epidemiology
  • Diabetic Nephropathies / genetics*
  • Diabetic Retinopathy / epidemiology
  • Diabetic Retinopathy / genetics*
  • Female
  • Follow-Up Studies
  • Genotype
  • Hemoglobins
  • Humans
  • Male
  • Polymorphism, Genetic*
  • Restriction Mapping
  • Time Factors

Substances

  • Hemoglobins
  • Collagen