The gene seems to be associated with familial combined hyperlipidaemia (FCHL), a disorder characterised by unfavourable serum lipid levels, high cholesterol, high triglycerides and low high-density lipoprotein (HDL) cholesterol, all of which are well-known risk factors for atherosclerosis and CHD.
It codes a protein known as upstream transcription factor 1 (USF1) that is thought to be involved in regulating several other genes participating in glucose and lipid metabolism.
The researchers note that this protein and its related pathways could represent a new target for biological treatments that strikes at the heart of FHCL, and could address the broad range of symptoms in these patients. Potentially, such an approach could be much more effective in fending off CHD than current treatments which tackle only a few of these risk factors.
Moreover, since the same chromosome 1q21 region has also been linked to type 2 diabetes mellitus in numerous earlier studies, it raises the possibility that the USF1 gene may explain the molecular background of not only hyperlipidaemias but also metabolic syndrome and type 2 diabetes.
FHCL occurs in about 20 per cent of CHD patients under 60 years and has a prevalence of 1-2 per cent among Western populations.
It has been linked to several genes and environmental factors. However, its aetiology has remained largely unknown, leaving a significant number of FHCL patients exposed to CHD without proper prevention and care. Now that the role of USF1 has been established, it should be possible to develop improved diagnostics to identify those at risk, continue the researchers.
The researchers, led by Prof Paivi Pajukanta of the National Public Health Institute in Finland, have reported their findings in the online version of the journal Nature Genetics.