Monogenic dyslipidemias: Window on determinants of plasma lipoprotein metabolism

American Journal of Human Genetics

Volumn 69, Issue 6, 2001, Pages 1161-1177

  Hegele, R A ^a  

^a ROBARTS RESEARCH INSTITUTE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; CHYLOMICRON; FATTY ACID; HIGH DENSITY LIPOPROTEIN; LIPOPROTEIN; LIPOPROTEIN A; LOW DENSITY LIPOPROTEIN; SITOSTEROL; TRIACYLGLYCEROL; VERY LOW DENSITY LIPOPROTEIN;

ATHEROSCLEROSIS; CHOLESTEROL ESTERIFICATION; CHOLESTEROL TRANSPORT; DYSLIPIDEMIA; FATTY ACID TRANSPORT; GENE LOCUS; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; HUMAN; HYPERCHOLESTEROLEMIA; HYPERLIPIDEMIA; HYPOBETALIPOPROTEINEMIA; INTESTINE; ISCHEMIC HEART DISEASE; LIPOPROTEIN BLOOD LEVEL; LIPOPROTEIN METABOLISM; LIVER; MONOGENIC DISORDER; PRIORITY JOURNAL; REVIEW; RISK FACTOR; TANGIER DISEASE;

EID: 0035213101     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/324647     Document Type: Review

References (185)

1. Identification of scavenger receptor SR-BI as a high density lipoprotein receptor
2. Defects of insulin action on fatty acid and carbohydrate metabolism in familial combined hyperlipidemia
3. Human pedigree-based quantitative-trait-locus mapping: Localization of two genes influencing HDL-cholesterol metabolism
4. Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease
5. Identification of a form of acyl-CoA:cholesterol acyltransferase specific to liver and intestine in nonhuman primates
6. A genome scan for familial combined hyperlipidemia reveals evidence of linkage with a locus on chromosome 11
7. Epidemiology of hypertriglyceridemia and cardiovascular disease
8. Cardiovascular disease mortality in familial forms of hypertriglyceridemia: A 20-year prospective study
9. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa
10. Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene
11. Lp(a) lipoprotein: An important genetic risk factor for atherosclerosis
12. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters
13. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease
14. Apolipoprotein(a) gene accounts for greater than 90% of the variation in plasma lipoprotein(a) concentrations
15. Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Clinical course and description of causal mutations in two patients
16. Hypertriglyceridemia associated with deficiency of apolipoprotein C-II
17. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
18. Lipoprotein metabolism in the macrophage: Implications for cholesterol deposition in atherosclerosis
19. A receptor-mediated pathway for cholesterol homeostasis
20. Resistance to diet-induced hypercholesterolemia and gallstone formation in ACAT2-deficient mice
21. Impaired chylomicron remnant clearance in familial combined hyperlipidemia
22. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis
23. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
24. ACAT-2, a second mammalian acyl-CoA:cholesterol acyltransferase: Its cloning, expression, and characterization
25. Identification of a gene encoding an acyl CoA: Diacylglycerol acyltransferase, a key enzyme in triacylglycerol synthesis
26. Mapping a gene for combined hyperlipidemia in a mutant mouse strain
27. Molecular cloning and functional expression of human acyl-coenzyme A:cholesterol acyltransferase cDNA in mutant Chinese hamster ovary cells
28. Roles of acyl-coenzyme A:cholesterol acyltransferase-1 and -2
29. The acylation stimulating protein-adipsin system
30. A new locus for autosomal recessive hypercholesterolemia maps to human chromosome 15q25-q26
31. Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes
32. Sequence polymorphisms in the apolipoprotein(a) gene: Evidence for dissociation between apolipoprotein(a) size and plasma lipoprorein(a) levels
33. Hepatic lipase: New insights from genetic and metabolic studies
34. Replication of linkage of familial combined hyperlipidemia to chromosome 1q with additional heterogeneous effect of apolipoprotein A-I/C-III/A-IV locus: The NHLBI Family Heart Study
35. Familial combined hyperlipidemia: Use of stable isotopes to demonstrate overproduction of very low density apolipoprotein B by the liver
36. Sterol-dependent transactivation of the ABC1 promoter by the liver X receptor/retinoid X receptor
37. Inheritance of apolipoprotein C-II deficiency with hypertriglyceridemia and pancreatitis
38. Complex segregation analysis provides evidence for a major gene acting on serum triglyceride levels in 55 British families with familial combined hyperlipidemia
39. Apolipoprotein AI/CIII/AIV gene cluster in familial combined hyperlipidemia: Effects on LDL-cholesterol and apolipoproteins B and C-III
40. Complex genetic contribution of the apoAI-CIII-AIV gene cluster to familial combined hyperlipidemia: Identification of different susceptibility haplotypes
41. Genetic basis of lipoprotein disorders
42. Lipoprotein(a) and coronary heart disease: Meta-analysis of prospective studies
43. Anderson's disease: Exclusion of apolipoprotein and intracellular lipid transport genes
44. Role of FXR and FTF in bile acid-mediated suppression of cholesterol 7alpha-hydroxylase transcription
45. Cholesterol metabolism in the brain
46. A major susceptibility locus influencing plasma triglyceride concentrations is located on chromosome 15q in Mexican Americans
47. Effects of three genetic loci in a pedigree with multiple lipoprotein phenotypes
48. Randomised trial of cholesterol lowering in 4444 patients with coronary heart disease: The Scandinavian Simvastatin Survival Study (4S)
49. Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-1 in Tangier disease
50. Tangier disease: Combined clinical staff conference at the National Institutes of Health
51. Fat transport in lipoproteins - An integrated approach to mechanisms and disorders
52. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein
53. Familial lipoprotein disorders in patients with premature coronary artery disease
54. Identification of TNFRSF1B as a novel modifier gene in familial combined hyperlipidemia
55. Unravelling the significance of cellular fatty acid-binding proteins
56. High-density lipoproteins in human health and disease
57. Regulation of the mevalonate pathway
58. The cholesterol quartet
59. Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia
60. Evidence for a third genetic locus causing familial hypercholesterolemia: A non-LDLR, non-APOB kindred
61. Remnant lipoproteins as therapeutic targets
62. Uncovering rare mutations: An unforeseen complication of routine genotyping of APOE
63. Premature atherosclerosis associated with monogenic insulin resistance
64. Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes
65. Genetic variation in factor VII associated with variation in plasma lipoprotein(a) concentration
66. Single nucleotide polymorphisms of RXRA encoding retinoid X receptor alpha
67. The hepatic nuclear factor-1alpha G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree
68. The private hepatocyte nuclear factor-1alpha G319S variant is associated with plasma lipoprotein variation in Canadian Oji-Cree
69. Hepatic lipase deficiency: Clinical, biochemical, and molecular genetic characteristics
70. Polymorphisms in PNLIP, encoding pancreatic lipase, and associations with metabolic traits
71. Tangier disease: One explanation of lipid storage
72. Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors
73. Apolipoprotein B mRNA editing: A new tier for the control of gene expression
74. Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred
75. A locus influencing total serum cholesterol on chromosome 19p: Results from an autosomal genomic scan of serum lipid concentrations in Pima Indians
76. Increased high-density lipoprotein levels caused by a common cholesteryl-ester transfer protein gene mutation
77. Complex segregation analysis of hyperglyceridemia
78. Lipoprotein (a) and coronary heart disease risk: A nested case-control study of the Helsinki Heart Study participants
79. A novel endothelial-derived lipase that modulates HDL metabolism
80. Targeted mutation of plasma phospholipid transfer protein gene markedly reduces high-density lipoprotein levels
81. Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35
82. Cholesterol-lowering action of plant sterols
83. RSH/Smith-Lemli-Opitz syndrome: Mutations and metabolic morphogenesis
84. Inborn errors of cholesterol biosynthesis
85. Integrated regulation of very low density lipoprotein triglyceride and apolipoprotein-B kinetics in man: Normolipidemic subjects, familial hypertriglyceridemia and familial combined hyperlipidemia
86. Genome-wide linkage analysis reveals evidence of multiple regions that influence variation in plasma lipid and apolipoprotein levels associated with risk of coronary heart disease
87. A cholesterol-lowering gene maps to chromosome 13q
88. Evidence of linkage of familial hypoalphalipoproteinemia to a novel locus on chromosome 11q23
89. The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes
90. Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): Evidence for sterol-dependent regulation in macrophages
91. The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway
92. Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption
93. Genetic basis of sitosterolemia
94. Structural properties of high density lipoprotein subclasses homogeneous in protein composition and size
95. Two genes that map to the STSL locus cause sitosterolemia: Genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively
96. Atherosclerosis
97. Apolipoprotein E: Cholesterol transport protein with expanding role in cell biology
98. Pathogenesis of type III hyperlipoproteinemia (dysbetalipoproteinemia): Questions, quandaries, and paradoxes
99. Identification of a nuclear receptor for bile acids
100. Lipoprotein(a) and coronary heart disease risk
101. Disruption of the acyl-CoA:cholesterol acyltransferase gene in mice: Evidence suggesting multiple cholesterol esterification enzymes in mammals
102. Genetic determination of plasma apolipoprotein AI in a population-based sample
103. The role of lipoprotein[a] in atherosclerosis
104. The role of vitamin E in the treatment of the neurological features of abetalipoproteinaemia and other disorders of fat absorption
105. Familial defective apolipoprotein B-100: A review, including some comparisons with familial hypercholesterolaemia
106. Mutations of the microsomal triglyceride-transferprotein gene in abetalipoproteinemia
107. Executive summary of the third report of the National Cholesterol Education Program (NCEP) expert panel on detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel III)
108. Single nucleotide polymorphisms of the very low density lipoprotein receptor (VLDLR) gene
109. CD36 in atherosclerosis: The role of a class B macrophage scavenger receptor
110. Family study of serum lipids and lipoproteins in coronary heart-disease
111. Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome
112. Characterization of two human genes encoding acyl coenzyme A:cholesterol acyltransferase-related enzymes
113. Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2)
114. Smith-Lemli-Opitz (RSH) syndrome bibliography: 1964-1993
115. Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23
116. No evidence of linkage between familial combined hyperlipidemia and genes encoding lipolytic enzymes in Finnish families
117. Genomewide scan for familial combined hyperlipidemia genes in Finnish families, suggesting multiple susceptibility loci influencing triglyceride, cholesterol, and apolipoprotein B levels
118. The role of the hedgehog/patched signaling pathway in epithelial stem cell proliferation: From fly to human
119. Mapping a gene involved in regulating dietary cholesterol absorption: The sitosterolemia locus is found at chromosome 2p21
120. Support for linkage of familial combined hyperlipidemia to chromosome 1q21-q23 in Chinese and German families
121. An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing
122. Beta-glucocerebrosidase gene locus as a link for Gaucher's disease and familial hypo-alpha-lipoproteinaemia
123. Abetalipoproteinemia
124. A genome search identifies major quantitative trait loci on human chromosomes 3 and 4 that influence cholesterol concentrations in small LDL particles
125. The role of orphan nuclear receptors in the regulation of cholesterol homeostasis
126. Regulation of absorption and ABC1-mediated efflux of cholesterol by RXR heterodimers
127. Impaired activation of adipocyte lipolysis in familial combined hyperlipidemia
128. Lp(a) lipoprotein as a risk factor for myocardial infarction
129. Serum lipoproteins and coronary heart disease in a population study of Hawaii Japanese men
130. Inheritance of combined hyperlipoproteinemia: Evidence for a new lipoprotein phenotype
131. The pathogenesis of atherosclerosis: A perspective for the 1990s
132. Atherosclerosis - An inflammatory disease
133. Nuclear orphan receptors control cholesterol catabolism
134. Bile acid biosynthesis
135. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1
136. The sterol regulatory element-binding protein pathway: Control of lipid homeostasis through regulated intracellular transport
137. The familial chylomicronemia syndrome
138. Lipoprotein(a): Heterogeneity and biological relevance
139. Apolipoprotein(a): Structure and biology
140. Coronary heart disease prevalence and other clinical features in familial high-density lipoprotein deficiency (Tangier disease)
141. ABC transporters in cellular lipid trafficking
142. Genetic variation of apolipoprotein B can produce both low and high levels of apo B-containing lipoproteins in plasma
143. Homozygous Tangier disease and cardiovascular disease
144. Identification of a new inborn error in bile acid synthesis: Mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease
145. Apolipoproteins C-I and C-III as important modulators of lipoprotein metabolism
146. Evidence for a gene influencing the TG/HDL-C ratio on chromosome 7q32.3qter: A genome-wide scan in the Framingham study
147. Leptin reverses insulin resistance and diabetes mellitus in mice with congenital lipodystrophy
148. Mortality over two centuries in large pedigree with familial hypercholesterolaemia: Family tree mortality study
149. Risk of fatal coronary heart disease in familial hypercholesterolaemia
150. Apolipoprotein E4: An allele associated with many diseases
151. Obesity resistance and multiple mechanisms of triglyceride synthesis in mice lacking Dgat
152. Apolipoprotein B and apolipoprotein AI as predictors of coronary artery disease
153. Plasma lipoprotein(a) protein concentration and coronary artery disease in black patients compared with white patients
154. Relationship of baseline serum cholesterol levels in 3 large cohorts of younger men to long-term coronary, cardiovascular, and all-cause mortality and to longevity
155. Bile acid and xenobiotic transporters in liver
156. Beyond LDL cholesterol reduction
157. Living up to a name: The role of the VLDL receptor in lipid metabolism
158. 1999 George Lyman Duff memorial lecture: Lipid transfer proteins, HDL metabolism, and atherogenesis
159. Tangier disease as a test of the reverse cholesterol transport hypothesis
160. Genetic determinants of plasma triglycerides: Impact of rare and common mutations
161. Genetic polymorphisms, lipoproteins and coronary artery disease risk
162. Hypoglycemia, hypotonia, and cardiomyopathy: The evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency
163. Glucose intolerance in familial combined hyperlipidaemia
164. Scavenger receptor classes A and B: Their roles in atherogenesis and the metabolism of modified LDL and HDL
165. Cholesterol in the year 2000
166. Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis
167. Apolipoprotein E in hyperlipidemia
168. Hepatocyte-specific mutation establishes retinoid X receptor alpha as a heterodimeric integrator of multiple physiological processes in the liver
169. Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent
170. Mutations in the human sterol delta-7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome
171. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene
172. Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia
173. Structural properties of the microsomal triglyceride-transfer-protein complex
174. Evidence against linkage of familial combined hyperlipidemia to the apolipoprotein AI-CIII-AIV gene complex
175. Evidence that men with familial hypercholesterolemia can avoid early coronary death: An analysis of 77 gene carriers in four Utah pedigrees
176. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics
177. Complex segregation analysis of hyperlipidemia in a Seattle sample
178. Familial combined hyperlipidaemia linked to the apolipoprotein AI-CIII-AIV gene cluster on chromosome 11q23-q24
179. Known mutations of apoB account for only a small minority of hypobetalipoproteinemia
180. Regulatory mutations in the human lipoprotein lipase gene in patients with familial combined hyperlipidemia and coronary artery disease
181. Do total and high density lipoprotein cholesterol and triglycerides act independently in the prediction of ischemic heart disease? Ten-year follow-up of Caerphilly and Speedwell cohorts
182. Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22
183. Increased coronary heart disease in Japanese-American men with mutation in the cholesteryl ester transfer protein gene despite increased HDL levels
184. Characterization of a new form of inherited hypercholesterolemia: Familial recessive hypercholesterolemia
185. Severe hypercholesterolaemia: Unusual inheritance in an Italian pedigree