Genetic association studies with coronary artery diseases are showing that single nucleotide polymorphisms ( SNPs ) found close together on chromosome 9 are associated with an increase prevalence of common diseases.
Individuals with two copies of them have an increased risk of coronary heart disease but less in its impact than diabetes or heavy smoking but is equivalent to smoking 10 cigarettes a day.
One wrong SNP increases the risk by 40%, two doubles the risk.
These are not necessarily the causative mutation but indictors in the long genomic region on chromosome 9 ( 9p21.3.)
There have been many false dawns in these studies, with more to come but this is all very interesting. Family history is still very important in defining risk. And makes one look harder at the claims for correlations between nutrition intake and disease. . The answer will be a balance between environmental factors and genomic patterns.
Finding a gene or SNP abnormality is not the same as describing the biology.
RS10811661 associated with diabetes found on chromosome 9
RS2241880 associated with Crohn’s disease on the long arm of chromosome 8
8Q24 associated with cancer of the breast, colorectal and prostate cancer on the long arm of chromosome 8
Baker 2008 Genetics by numbers Nature vol 451 pp516-7
- Martin Eastwood