【摘 要】
：
Here are two classical models for the impact of genetic variation in cardiovascular disease.Firstly,rare but severe single gene mutations can cause a phenot
【机 构】
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Salisbury District Hospital, National Genetics Reference Laboratory(Wessex), England
【出 处】
：
2005 World DNA and Genome Day(2005中国(大连)国际DNA和基因组节大会)
论文部分内容阅读
Here are two classical models for the impact of genetic variation in cardiovascular disease.Firstly,rare but severe single gene mutations can cause a phenotype which shows strong familial clustering.For example is mutation in the low density lipoprotein receptor gene (LDLR) gene leading to autosomal dominant familial hypercholesterolemia (FH) in 1/500 members of the general population.Secondly,common polymorphisms (or haplotypes) may exert small individual effects but with significant population attributable risk.For example we have shown that haplotypes ofIGF2-INS-TH influence a variety of cardiovascular risk traits (Rodriguez et al 2004,Human Molecular Genetics 13; 15-25) and that SNP and microsatellite markers across the GH-CSH gene cluster associate both with early growth,and traits of ageing including bone loss and metabolic syndrome traits (Dennison et al 2004,J Clin End Metab 89 (10) 4898-903 and Day et al 2004,J Clin End Metab 89 (11) 5569-5576).
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