No evidence for involvement of type 1 collagen structural genes in 'genetic predisposition' to alcoholic cirrhosis.
Type 1 collagen is the predominant collagen in cirrhotic livers. Each type 1 collagen molecule contains three subunits, two are identical (the alpha 1 chains) and the sequence of the third (alpha 2) is very similar. They are encoded at the non-synthenic loci, COL1A1 and COL1A2 and restriction site dimorphisms have been described at each locus. Genetic factors have been invoked as a basis for increased susceptibility to alcoholic cirrhosis. One hypothesis is that genetically determined differences in type 1 collagen may be involved in this predisposition. We have examined this by analysing restriction fragment length polymorphisms at each type 1 collagen locus in leucocyte DNA from 56 unrelated patients with alcoholic cirrhosis and 74 local unrelated healthy controls. Based on the presence or absence of these restriction site dimorphisms four possible haplotypes were generated at COL1A1 and COL1A2. We found no significant difference in allele frequencies between alcoholic cirrhotics and controls and, unlike a previous small study, we found no particular haplotype of either gene was associated with alcoholic cirrhosis. Our study provides no evidence for involvement of type 1 collagen structural genes in a genetic predisposition to cirrhosis in alcoholics.
Department of Medicine, University of Newcastle upon Tyne, Medical School, United Kingdom.
R
R
Bashir
C P
CP
Day
O F
OF
James
D J
DJ
Ogilvie
B
B
Sykes
M F
MF
Bassendine
D003094:Collagen / Q000235:genetics*; D005796:Genes / Q000235:genetics*; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008104:Liver Cirrhosis, Alcoholic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length
D003094:Collagen