Polygenic Risk Scores in Familial Hypercholesterolemia
نویسندگان
چکیده
منابع مشابه
Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia
BACKGROUND AND AIMS Familial hypercholesterolemia (FH) is a common inherited disorder of low density lipoprotein-cholesterol (LDL-C) metabolism. It is associated with higher risk of premature coronary heart disease. Around 60% of patients with a clinical diagnosis of FH do not have a detectable mutation in the genes causing FH and are most likely to have a polygenic cause for their raised LDL-C...
متن کاملFamilial hypercholesterolemia: a case report
Abstract Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individual...
متن کاملMultiethnic polygenic risk scores improve risk prediction in diverse populations.
Methods for genetic risk prediction have been widely investigated in recent years. However, most available training data involves European samples, and it is currently unclear how to accurately predict disease risk in other populations. Previous studies have used either training data from European samples in large sample size or training data from the target population in small sample size, but...
متن کاملRisk of brain infarction in familial hypercholesterolemia.
We followed 54 subjects with heterozygous familial hypercholesterolemia for an average of 10 (range 3-14) years. Half were treated surgically with partial ileal bypass and the other half (matched for age, sex, coronary heart disease, blood pressure, diabetes mellitus, smoking, obesity, and serum cholesterol concentration) were treated conservatively with diet and hypolipidemic drugs. The mean d...
متن کاملFamilial hypercholesterolemia: A case report
Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individuals cardiov...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of the American College of Cardiology
سال: 2019
ISSN: 0735-1097
DOI: 10.1016/j.jacc.2019.06.006