Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

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Annotation Summary

Term Occurence Count Dictionary
diabetes mellitus 2 endocrinologydiseases
familial hypercholesterolemia 6 endocrinologydiseases
hypertriglyceridemia 1 endocrinologydiseases
metabolic syndrome 1 endocrinologydiseases
obesity 1 endocrinologydiseases
Insulin 1 endocrinologydiseasesdrugs

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Insulin 62493 in a group of individuals with hypercholesterolemia from Israel, Netherlands and Switzerland [[233]]. Insulin induced gene 2 (INSIG2)The INSIG proteins regulate the cholesterol synthesis via SCAP-SREBF pathway.
Select Disease Character Offset Disease Term Instance
diabetes mellitus 57653 shown to be associated with elevated TC and LDL-C levels in a Polish group of children with monogenic diabetes mellitus and type-1 diabetes mellitus [[212]]. In a Korean population-based candidate gene study, two other GCKR
diabetes mellitus 57682 elevated TC and LDL-C levels in a Polish group of children with monogenic diabetes mellitus and type-1 diabetes mellitus [[212]]. In a Korean population-based candidate gene study, two other GCKR variants (rs780094 and rs780092)
familial hypercholesterolemia 559 burden. Mutations in four genes (LDLR, APOB, PCSK9 and LDLRAP1) account for the majority of cases with familial hypercholesterolemia . However, a substantial proportion of adults with hypercholesterolemia do not have a mutation in any
familial hypercholesterolemia 6804 Genes encoding proteins with a regulatory function in lipid homeostasis are in purple colourMonogenic familial hypercholesterolemia vs. polygenic hypercholesterolemiaMutations of the genes that encode the proteins involved in LDL uptake
familial hypercholesterolemia 7127 LDL receptor adaptor protein by LDLRAP1 gene and PCSK9 protein by PCSK9 gene) are well-known to cause familial hypercholesterolemia by defective LDL uptake and degradation, which in-turn leads to an elevation of plasma LDL-C level,
familial hypercholesterolemia 7591 classically described as monogenic disorders with Mendelian inheritance. Majority of the patients with familial hypercholesterolemia (FH) have a mutation in the LDLR gene which is dominantly inherited. Mutations in the APOB and PCSK9
familial hypercholesterolemia 7823 genes accounts for a smaller percentage of autosomal dominant FH. A rare autosomal recessive form of familial hypercholesterolemia is produced by homozygous and compound heterozygous mutations of LDLRAP1 gene [[6], [7]].Recently, novel
familial hypercholesterolemia 21577 mutations in LDLRAP1 gene encoding LDL receptor adaptor protein accounts for the autosomal recessive familial hypercholesterolemia . Few other lipoprotein receptor proteins with structural similarity to LDL receptor have been shown
hypertriglyceridemia 10628 latter part of this review. The genes associated with plasma triglyceride levels were not included since hypertriglyceridemia is described as a separate clinical entity. The potentially relevant papers during the last 10 years
metabolic syndrome 53674 another member of the ANGPTL gene cluster at 19p13.2 locus. In a cohort of Korean individuals with metabolic syndrome , serum ANGPTL6 level was significantly higher in patients with low HDL-C level [[200]]. The association
obesity 9098 genotype and the provoking environmental factors such as excessive amount of saturated fat in diet, obesity and physical inactivity. The genetic susceptibility is supposed to be the cumulative effect of the mutations

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