التفاصيل البيبلوغرافية
| العنوان: |
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. |
| المؤلفون: |
Talmud, Philippa J.1, Shah, Sonia2, Whittall, Ras1, Futema, Marta1, Howard, Philip1, Cooper, Jackie A.1, Harrison, Seamus C.1, KaWah Li, Drenos, Fotios1, Karpe, Frederik3, Neil, H. Andrew W.4, Descamps, Olivier S.5, Langenberg, Claudia6,7, Lench, Nicholas8, Kivimaki, Mika9, Whittaker, John10,11, Hingorani, Araon D.7, Kumari, Meena9, Humphries, Steve E.1,2 s.humphries@ucl.ac.uk |
| المصدر: |
Lancet. 4/13/2013, Vol. 381 Issue 9874, p1293-1301. 9p. |
| مصطلحات موضوعية: |
*LIPOPROTEINS, *LIPIDS, *CHOLESTEROL, *ISOPENTENOIDS, *ALLELES |
| مستخلص: |
The article discusses a study which examined whether an accumulation of common small-effect low-density lipoprotein cholesterol (LDL-C)-raising alleles can cause familial hypercholesterolaemia. Participants were genotyped for common LDL-C-raising alleles identified by the Global Lipid Genetics Consortium. Findings revealed strong association between the mean weighted LDL-C gene score and LDL-C concentration. Results also showed higher mean weighted LDL-C score for mutation-negative patients. |
| قاعدة البيانات: |
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