Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Apolipoprotein A1 deficiency

Apolipoprotein A1 deficiency is defined by the laboratory finding of extremely low or absent protein in plasma. Apolipoprotein A1 deficiency is also characterized by hypoalphalipoprooteinemia.

Systematic

Apolipoprotein deficiency
APOA5
APOB
APOC1
APOC2
APOC3
APOE
APOL1
APOM
Apolipoprotein A1 deficiency
APOA1
Apolipoprotein A2 deficiency
Apolipoprotein F deficiency
Apolipoprotein H deficiency
CLU

References:

1.

Kessling AM et al. (1988) DNA polymorphisms of the apolipoprotein AII and AI-CIII-AIV genes: a study in men selected for differences in high-density-lipoprotein cholesterol concentration.

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2.

Lusis AJ et al. (1983) Genetic control of lipid transport in mice. II. Genes controlling structure of high density lipoproteins.

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3.

Hamidi Asl K et al. (1999) A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis.

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4.

Obici L et al. (1999) The new apolipoprotein A-I variant leu(174) --> Ser causes hereditary cardiac amyloidosis, and the amyloid fibrils are constituted by the 93-residue N-terminal polypeptide.

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5.

Shah PK et al. (2001) High-dose recombinant apolipoprotein A-I(milano) mobilizes tissue cholesterol and rapidly reduces plaque lipid and macrophage content in apolipoprotein e-deficient mice. Potential implications for acute plaque stabilization.

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6.

Sadaf A et al. (2002) Apolipoprotein AI promoter variant in blood pressure determination.

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7.

Lachmann HJ et al. (2002) Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.

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8.

Martinez LO et al. (2003) Ectopic beta-chain of ATP synthase is an apolipoprotein A-I receptor in hepatic HDL endocytosis.

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9.

Zhang Y et al. (2003) Overexpression of apolipoprotein A-I promotes reverse transport of cholesterol from macrophages to feces in vivo.

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10.

Nissen SE et al. (2003) Effect of recombinant ApoA-I Milano on coronary atherosclerosis in patients with acute coronary syndromes: a randomized controlled trial.

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11.

Soutar AK et al. (1992) Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis.

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12.

Smith JD et al. (1992) Polymorphism in the human apolipoprotein A-I gene promoter region. Association of the minor allele with decreased production rate in vivo and promoter activity in vitro.

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13.

Ajees AA et al. (2006) Crystal structure of human apolipoprotein A-I: insights into its protective effect against cardiovascular diseases.

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14.

Funke H et al. (1991) A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities.

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15.

Matsunaga T et al. (1991) Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene.

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16.

Kastelein JJ et al. (1990) The gene causing familial hypoalphalipoproteinemia is not caused by a defect in the apo AI-CIII-AIV gene cluster in a Spanish family.

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17.

Arinami T et al. (1990) Assignment of the apolipoprotein A-I gene to 11q23 based on RFLP in a case with a partial deletion of chromosome 11, del(11)(q23.3----qter).

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18.

Brewer HB et al. (1978) The amino acid sequence of human APOA-I, an apolipoprotein isolated from high density lipoproteins.

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19.

Ladias JA et al. (1990) Apolipoprotein A1 Baltimore (Arg10----Leu), a new ApoA1 variant.

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20.

Nichols WC et al. (1990) A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy.

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21.

Gustafson A et al. (1979) Identification of lipoprotein families in a variant of human plasma apolipoprotein A deficiency.

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22.

Moll PP et al. (1989) Genetic determination of plasma apolipoprotein AI in a population-based sample.

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23.

Ordovas JM et al. (1989) Familial apolipoprotein A-I, C-III, and A-IV deficiency and premature atherosclerosis due to deletion of a gene complex on chromosome 11.

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24.

von Eckardstein A et al. (1989) Apolipoprotein A-I variants. Naturally occurring substitutions of proline residues affect plasma concentration of apolipoprotein A-I.

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25.

Ferns GA et al. (1985) Genetic polymorphisms of apolipoprotein C-III and insulin in survivors of myocardial infarction.

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26.

Ferns GA et al. (1986) A DNA polymorphism of the apoprotein AII gene in hypertriglyceridaemia.

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27.

Hayden MR et al. (1987) DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias.

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28.

Stocks J et al. (1987) Haplotypes identified by DNA restriction-fragment-length polymorphisms in the A-1 C-III A-IV gene region and hypertriglyceridemia.

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29.

Breslow JL et al. (1988) Apolipoprotein genetic variation and human disease.

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30.

Thompson EA et al. (1988) The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes.

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31.

Antonarakis SE et al. (1988) DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster.

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32.

Rees A et al. (1985) Deoxyribonucleic acid polymorphism in the apolipoprotein A-1-C-III gene cluster. Association with hypertriglyceridemia.

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33.

Kessling AM et al. (1985) A study of DNA polymorphisms around the human apolipoprotein AI gene in hyperlipidaemic and normal individuals.

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34.

Frossard PM et al. (1986) ApaI RFLP 5.4 kb 5' to the human apolipoprotein AI (APO A1) gene.

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35.

Cohen T et al. (1986) DNA polymorphic sites in the human ApoAI-CIII-AIV cluster: Taq I and Ava I.

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36.

Haddad IA et al. (1986) Linkage, evolution, and expression of the rat apolipoprotein A-I, C-III, and A-IV genes.

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37.

Yui Y et al. (1988) Serum prostacyclin stabilizing factor is identical to apolipoprotein A-I (Apo A-I). A novel function of Apo A-I.

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38.

Rees A et al. (1986) Haplotypes identified by DNA polymorphisms at the apolipoprotein A-1 and C-III loci and hypertriglyceridaemia. A study in a Japanese population.

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39.

Ordovas JM et al. (1986) Apolipoprotein A-I gene polymorphism associated with premature coronary artery disease and familial hypoalphalipoproteinemia.

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40.

Moll PP et al. (1986) The genetic determination of plasma apolipoprotein A-I levels measured by radioimmunoassay: a study of high-risk pedigrees.

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41.

Ginsberg HN et al. (1986) Apolipoprotein B metabolism in subjects with deficiency of apolipoproteins CIII and AI. Evidence that apolipoprotein CIII inhibits catabolism of triglyceride-rich lipoproteins by lipoprotein lipase in vivo.

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42.

Karathanasis SK et al. (1986) Structure, evolution, and polymorphisms of the human apolipoprotein A4 gene (APOA4).

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43.

Schroeder WT et al. (1987) Localization of the human catalase and apolipoprotein A-I genes to chromosome 11.

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44.

Karathanasis SK et al. (1987) DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis.

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45.

Bojanovski D et al. (1987) In vivo metabolism of proapolipoprotein A-I in Tangier disease.

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46.

Strobl W et al. (1988) Apolipoprotein A-I (Glu 198----Lys): a mutant of the major apolipoprotein of high-density lipoproteins occurring in a family with dyslipoproteinemia.

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47.

Nichols WC et al. (1988) Variant apolipoprotein AI as a major constituent of a human hereditary amyloid.

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48.

Rall SC et al. (1986) Identification of homozygosity for a human apolipoprotein A-I variant.

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49.

Gualandri V et al. (1985) AIMilano apoprotein identification of the complete kindred and evidence of a dominant genetic transmission.

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50.

Buraczynska M et al. (1985) Apolipoprotein A-I gene polymorphism and susceptibility of non-insulin-dependent diabetes mellitus.

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51.

Borecki IB et al. (1986) A major gene for primary hypoalphalipoproteinemia.

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52.

Miller GJ et al. (1975) Plasma-high-density-lipoprotein concentration and development of ischaemic heart-disease.

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53.

Rees A et al. (1983) DNA polymorphism adjacent to human apoprotein A-1 gene: relation to hypertriglyceridaemia.

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54.

Law SW et al. (1984) Nucleotide sequence and the encoded amino acids of human apolipoprotein A-I mRNA.

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55.

Botstein D et al. (1980) Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

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56.

Breslow JL et al. (1982) Isolation and characterization of cDNA clones for human apolipoprotein A-I.

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57.

Karathanasis SK et al. () Linkage of human apolipoproteins A-I and C-III genes.

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58.

Weisgraber KH et al. (1983) Apolipoprotein A-IMilano. Detection of normal A-I in affected subjects and evidence for a cysteine for arginine substitution in the variant A-I.

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59.

Karathanasis SK et al. (1983) An inherited polymorphism in the human apolipoprotein A-I gene locus related to the development of atherosclerosis.

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60.

Law SW et al. (1983) cDNA cloning of human apoA-I: amino acid sequence of preproapoA-I.

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61.

Shoulders CC et al. (1983) Gene structure of human apolipoprotein A1.

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62.

O'Donnell KA et al. (1983) Genetic evidence that the multiple apolipoprotein A-1 isoforms are encoded by a common structural gene.

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63.

Schamaun O et al. (1983) Genetic studies of an apoA-I lipoprotein variant.

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64.

Karathanasis SK et al. (1983) Isolation and characterization of the human apolipoprotein A-I gene.

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65.

Cheung P et al. (1984) Localization of the structural gene for human apolipoprotein A-I on the long arm of human chromosome 11.

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66.

Law SW et al. (1984) Human apolipoprotein A-I and C-III genes reside in the p11----q13 region of chromosome 11.

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67.

Rall SC et al. (1984) Abnormal lecithin:cholesterol acyltransferase activation by a human apolipoprotein A-I variant in which a single lysine residue is deleted.

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68.

Protter AA et al. (1984) Isolation and sequence analysis of the human apolipoprotein CIII gene and the intergenic region between the apo AI and apo CIII genes.

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69.

Utermann G et al. (1984) Apolipoprotein A-IGiessen (Pro143----Arg). A mutant that is defective in activating lecithin:cholesterol acyltransferase.

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70.

Forte TM et al. (1984) Familial apolipoprotein AI and apolipoprotein CIII deficiency. Subclass distribution, composition, and morphology of lipoproteins in a disorder associated with premature atherosclerosis.

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71.

Third JL et al. (1984) Primary and familial hypoalphalipoproteinemia.

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72.

Weisgraber KH et al. (1980) A-Imilano apoprotein. Isolation and characterization of a cysteine-containing variant of the A-I apoprotein from human high density lipoproteins.

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73.

Schaefer EJ et al. () Plasma apolipoprotein A-1 absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease.

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74.

Utermann G et al. (1982) Apolipoprotein AIMarburg: studies on two kindreds with a mutant of human apolipoprotein AI.

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75.

Glueck CJ et al. (1982) Pediatric victims of unexplained stroke and their families: familial lipid and lipoprotein abnormalities.

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76.

Norum RA et al. (1982) Familial deficiency of apolipoproteins A-I and C-III and precocious coronary-artery disease.

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77.

Daniels SR et al. () Cerebrovascular arteriopathy (arteriosclerosis) and ischemic childhood stroke.

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78.

Utermann G et al. (1982) Genetic variants of group A apolipoproteins. Rapid methods for screening and characterization without ultracentrifugation.

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79.

Vergani C et al. (1981) Familial hypo-alpha-lipoproteinemia.

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80.

Fager G et al. () Multivariate analyses of serum apolipoproteins and risk factors in relation to acute myocardial infarction.

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81.

Franceschini G et al. (1980) A-IMilano apoprotein. Decreased high density lipoprotein cholesterol levels with significant lipoprotein modifications and without clinical atherosclerosis in an Italian family.

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82.

Nakata K et al. (1993) Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene.

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83.

Ng DS et al. (1994) Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia.

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84.

Plump AS et al. (1996) Apolipoprotein A-I is required for cholesteryl ester accumulation in steroidogenic cells and for normal adrenal steroid production.

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85.

Booth DR et al. (1996) Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene.

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86.

Dallinga-Thie GM et al. (1997) Complex genetic contribution of the Apo AI-CIII-AIV gene cluster to familial combined hyperlipidemia. Identification of different susceptibility haplotypes.

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87.

Naganawa S et al. (1997) Intestinal transcription and synthesis of apolipoprotein AI is regulated by five natural polymorphisms upstream of the apolipoprotein CIII gene.

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88.

Huang W et al. (1998) A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency.

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89.

Genschel J et al. (1998) Apolipoprotein A-I induced amyloidosis.

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90.

Hamidi Asl L et al. (1999) Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1.

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91.

Yamakawa-Kobayashi K et al. (1999) Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey.

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Update: Sept. 26, 2018