title: 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.
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.
authors.affiliation: Steno Diabetes Center, Gentofte, Denmark.
authors.forename: J W
authors.initials: JW
authors.lastname: Chen
authors.forename: P M
authors.initials: PM
authors.lastname: Hansen
authors.forename: L
authors.initials: L
authors.lastname: Tarnow
authors.forename: A
authors.initials: A
authors.lastname: Hellgren
authors.forename: T
authors.initials: T
authors.lastname: Deckert
authors.forename: F
authors.initials: F
authors.lastname: Pociot
mesh_terms: D000328:Adult; D000419:Albuminuria; D000483:Alleles; D003094:Collagen / Q000235:genetics*; D003718:Denmark / Q000453:epidemiology; D003922:Diabetes Mellitus, Type 1 / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D003928:Diabetic Nephropathies / Q000453:epidemiology / Q000235:genetics*; D003930:Diabetic Retinopathy / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006454:Hemoglobins; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D015183:Restriction Mapping; D013997:Time Factors
chemical_list: D006454:Hemoglobins; D003094:Collagen