Apolipoprotein A1
This APOA1 gene encodes apolipoprotein A1, a component of HDL particles. Mutations cause autosomal dominant or recessive hypoalphalipoproteinemia, a disease characterized by an increased cardiovascular risk. Some mutations may cause autosomal dominant visceral amyloidosis.
Gene Structure
APOA1-APOC3-APOA4 gene cluster shows a remarkable linkage disequilibrium, so if we find a disease association of a polymorphism in one of these genes it may be related to a polymorphism in an other of these genes as well.
Genetests:
Related Diseases:
References:
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12. |
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31. |
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32. |
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33. |
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47. |
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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48. |
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50. |
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51. |
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52. |
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53. |
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54. |
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55. |
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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56. |
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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57. |
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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58. |
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59. |
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60. |
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61. |
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62. |
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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63. |
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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64. |
Sadaf A et al. (2002) Apolipoprotein AI promoter variant in blood pressure determination.
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65. |
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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66. |
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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67. |
Hamidi Asl K et al. (1999) A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis.
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68. |
Lachmann HJ et al. (2002) Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.
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69. |
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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71. |
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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72. |
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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73. |
Schroeder WT et al. (1987) Localization of the human catalase and apolipoprotein A-I genes to chromosome 11.
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74. |
Karathanasis SK et al. (1986) Structure, evolution, and polymorphisms of the human apolipoprotein A4 gene (APOA4).
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75. |
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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76. |
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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77. |
Ordovas JM et al. (1986) Apolipoprotein A-I gene polymorphism associated with premature coronary artery disease and familial hypoalphalipoproteinemia.
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78. |
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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79. |
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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80. |
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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81. |
Cohen T et al. (1986) DNA polymorphic sites in the human ApoAI-CIII-AIV cluster: Taq I and Ava I.
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82. |
Frossard PM et al. (1986) ApaI RFLP 5.4 kb 5' to the human apolipoprotein AI (APO A1) gene.
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83. |
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84. |
Rees A et al. (1985) Deoxyribonucleic acid polymorphism in the apolipoprotein A-1-C-III gene cluster. Association with hypertriglyceridemia.
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85. |
Antonarakis SE et al. (1988) DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster.
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86. |
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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87. |
None (1988) Apolipoprotein genetic variation and human disease.
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88. |
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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89. |
Hayden MR et al. (1987) DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias.
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90. |
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91. |
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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92. |
OMIM.ORG article
Omim 107680
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93. |
NCBI article
NCBI 335
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94. |
Orphanet article
Orphanet ID 121380
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95. |
Wikipedia article
Wikipedia EN (Apolipoprotein_A1)
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Update: Aug. 14, 2020