Apolipoprotein C-I

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OMIM Number

107710

NCBI Gene ID

341

Uniprot ID

P02654

Length

5,022 bases

No. of Exons

5

No. of isoforms

1

Protein Name

Apolipoprotein C-I

Molecular Mass

9332 Da

Amino Acid Count

83

Genomic Location

chr19:44,914,324-44,919,345

Gene Map Locus
19q13.32

Description

The protein encoded by this gene is a member of the apolipoprotein C family, which also includes apo C-II and apo C-III. In contrast to other extensively investigated apolipoproteins such as apo E, B, and AI, and even apo C-II and C-III, the physiological role of apo C-I is less well established. APOC1 is a constituent of triglyceride-rich lipoproteins and high-density lipoproteins (HLD) serve as cofactors in enzymatic reactions involving lipid metabolism. In vitro, APOC1 has been suggested to be positively involved in HDL metabolism through activation of lecithin-cholesterol acyltransferase (LCAT), inhibition of hepatic lipase (HL), and inhibition of cholesteryl ester (CE) and transfer protein (CETP) activity.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001645.3:c.*459A>GUnited Arab EmiratesNC_000019.10:g.44919689A>GAssociationType 2 Diabetes Mellitus; Coronary Artery Disease, Autosomal Dominant, 1NG_012859.1:g.10026A>G; NM_001645.3:c.*459A>G4420638162177

Other Reports

Kuwait

Al-Bustan et al. (2009) investigated the possible association of clinical variables and apolipoprotein (APOE, APOCI, and APOB) polymorphisms with the development of myocardial infarction (MI) and coronary heart disease (CHD) in Kuwaitis. APOCI genotype was determined by polymerase chain reaction followed by restriction fragment length polymorphism in 143 Kuwaiti CHD patients with (n = 88) and without (n = 55) MI and in 122 controls matched for gender and age. In this study, Al-Bustan et al. (2009) determined APOCI genotype by studying a polymorphism at the APOCI gene locus, an Hpa I restriction site, which has been described as an insertion of CGTT at 317 bp from the 5' transcription initiation site. A statistically significant association was found between CHD and medical history of diabetes mellitus (p < 0.001), hypertension (p < 0.01), high cholesterol (p < 0.05) and family history of CHD (p < 0.001). A highly significant association (p < 0.001) was found, with an adjusted odds ratio of 9.32, for family history and the development of MI. No significant differences were found for allele or genotype frequencies between CHD patients and controls. Al-Bustan et al. (2009) concluded that the strong effect of family history suggests a major genetic component for the development of CHD in Kuwaitis, but this association does not appear to be related to the APO genes investigated in this study. They also suggested that the results in this study encourage future research into these and other polymorphisms and their potential association with MI and CHD in the Kuwaiti population.

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