Apolipoprotein A-I

Alternative Names

  • APOA1
  • Apolipoprotein of High Density Lipoprotein
  • APOA1/APOC3 Fusion Gene

Associated Diseases

Hypertension, Essential
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OMIM Number

107680

NCBI Gene ID

335

Uniprot ID

P02647

Length

2,200 bases

No. of Exons

4

Protein Name

Apolipoprotein A-I

Molecular Mass

30778 Da

Amino Acid Count

267

Genomic Location

chr11:116,835,751-116,837,950

Gene Map Locus
11q23.3

Description

Apolipoprotein A-I is the major apoprotein of HDL and is a relatively abundant plasma protein with a concentration of 1.0-1.5 mg/ml. It is a single polypeptide chain with 243 amino acid residues of known primary amino acid sequence. ApoA-I is a cofactor for LCAT, which is responsible for the formation of most cholesteryl esters in plasma. ApoA-I also promotes efflux of cholesterol from cells. The liver and small intestine are the sites of synthesis of apoA-I.

Decreased serum high density lipoprotein cholesterol levels have been reported to correlate with increased risk of coronary artery disease. However, Apo A-I has been suggested as a better discrimination of coronary artery disease than HDL. In some populations, mainly Caucasian, the pattern of apolipoprotein a polymorphism determines lipoprotein A levels and coronary heart disease risk. Apo A-I levels also correlate with survival rates or risk factors for patients with myocardial infarction and peripheral vascular disease. Measurement of Apo A-I may also aid in the diagnosis of Tangier disease (absence of alpha-lipoprotein).

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000039.2:c.-75=United Arab EmiratesNC_000011.10:g.116837659=Uncertain SignificanceHypertension, EssentialNG_012021.1:g.4964=; NM_000039.2:c.-75=1941589418

Other Reports

Kuwait

Akanji (2000) studied the association of Apo A polymorphisms with development of coronary heart disease in Kuwait in 140 healthy control individuals and 140 subjects with coronary heart disease. Akanji concluded that the frequency and pattern of distribution of Apo A phenotypes did not differ significantly between healthy control Kuwaiti Arab subjects and those with coronary heart disease.

Oman

Al-Yahyaee et al. (2004) reported the relative frequencies of M1- [-75(G>A)] and M2- [+83(C>T)/+84(G>A)] alleles of the APOA1 gene in a healthy Omani population. DNA from 150 individuals was analyzed by PCR for the APOA1 gene, yielding a 434-bp product, which contained three Msp1 restriction sites at -75, +37, and +83 bp. The PCR product was analyzed by RFLP using MspI and the resultant fragments were separated on a polyacrylamide gel. Comparison with world populations revealed that both the M1-frequency (0.22) and the M2-frequency (0.067) resembled those of Australian, and Southern European populations, but M1- was significantly lower in frequency than in Chinese and Malays, and higher than the frequencies in Northern Europeans, Japanese, and Nigerians. On the contrary, M2- occurred in the Omani population more than in Indians and less than in Nigerians.

Saudi Arabia

Buraiki et al., (1997) screened for two mutations, C to T transition in the codon 207 of the LPL gene and G to A 76 base pairs upstream from the transcription site of apolipoprotein A-I to identify disease markers among Saudi subjects.  The frequencies were 1 per 100 and 1 per 70 for the C-T and G to A mutations, respectively.

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