Article
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study.
Lancet (London, England) - 13 Apr 2013
Talmud Philippa J, Shah Sonia, Whittall Ros, Futema Marta, Howard Philip, Cooper Jackie A, Harrison Seamus C, Li Kawah, Drenos Fotios, Karpe Frederik, Neil H Andrew W, Descamps Olivier S, Langenberg Claudia, Lench Nicholas, Kivimaki Mika, Whittaker John, Hingorani Aroon D, Kumari Meena, Humphries Steve E
Abstract excerpt
BACKGROUND: Familial hypercholesterolaemia is a common autosomal-dominant disorder caused by mutations in three known genes. DNA-based cascade testing is recommended by UK guidelines to identify affected relatives; however, about 60% of patients are mutation-negative. We assessed the hypothesis that familial hypercholesterolaemia can also be caused by an accumulation of common small-effect LDL-C-raising alleles....
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