Restriction fragment length polymorphisms of the apolipoprotein A-I, C-III, A-IV gene locus Relationships with lipids, apolipoproteins, and premature coronary artery disease

Population prevalence of APOE, APOC3 and PPAR-α mutations associated to hypertriglyceridemia in French Canadians

“…Lille population composed of 495 men and 176 women living in the urban community of Lille (Dallongeville et al 2001) e Czech Slav population (Waterworth et al 2000) f Italian population recruited from five schools in the tenth district of Rome (Shoulders et al 1996) g Population living at 2,000 km Northwest of Toronto, Ontario (Hegele et al 1997) (Hegele et al 1995) b Population from the Rockefeler University Hospital or members of the university community (Dammerman et al 1993) c Control population from the Framingham cohort (Ordovas et al 1991) d ARIC population from four different US cities (Surguchov et al 1996) e EARS control population came from 11 European countries divided into four regions: Baltic, United kingdom; middle Europe and southern Europe (Waterworth et al 1999) f Europeans came from the European Union Biomedical Project comprising subjects with no personal or familial history of coronary heart disease and from Germany, Spain and Italy (Zhang et al 1998) g Broader population survey on cardiovascular risk factors h Population from Scotland was control men without coronary heart disease history (Rees et al 1983) i Utrecht are spouses of Dutch Caucasians FCHL recruited from the lipid clinic of the University Medical Centre Utrecht (Groenendijk et al 2001) j Italian population recruited from five schools in the tenth district of Rome (Shoulders et al 1996) k Population from London was healthy controls (Price et al 1989) markers (Dallongeville et al 2000). Furthermore, the G3238 allele was found to be associated with HTG in different populations, such as Caucasians (Dammerman et al 1993;Ordovas et al 1991;Shoulders et al 1996), Arabs (Tas 1989) and Japanese (Zeng et al 1995), and with elevated plasma apoCIII levels in healthy English (Shoulders et al 1991), Italian school children (Shoulders et al 1996) and Dutch Caucasians' spouses (Dallinga-Thie et al 1997).…”

“…Furthermore, the G3238 allele was found to be associated with HTG in different populations, such as Caucasians (Dammerman et al 1993;Ordovas et al 1991;Shoulders et al 1996), Arabs (Tas 1989) and Japanese (Zeng et al 1995), and with elevated plasma apoCIII levels in healthy English (Shoulders et al 1991), Italian school children (Shoulders et al 1996) and Dutch Caucasians' spouses (Dallinga-Thie et al 1997). Several lines of evidence have implicated apoCIII, specifically its over-expression, in the phenotypic expression of HTG.…”

Polymorphisms in Four Genes Related to Triglyceride and HDL-cholesterol Levels in the General Japanese Population in 2000

“…Among the several polymorphisms we selected, -514C → T, located in the promoter region of the LIPC gene, has been demonstrated to influence LIPC activity levels (22). Apolipoprotein CIII (apoCIII) can inhibit LPL and reduces the uptake of TG-rich remnant particles and the SstI polymorphism of the APOC3 gene has been shown to be associated with hypertriglyceridemia and CAD in various human populations (23)(24)(25)(26)(27). Therefore, we also examined these polymorphisms in the general Japanese population.…”

Haplotype analysis of the apolipoprotein gene cluster on human chromosome 11

“…In APOC3, two rare alleles in the promoter region (−482C →T and −455T →C) and a minor allele in the 3′UTR (SstI polymorphism, 3238G →C) have repeatedly been associated with elevated plasma triglyceride concentrations in several human populations [5][6][7][8][9][10][11][12][13][14][15]. However, the lack of strong functional data at least for the SstI polymorphism raises questions whether the association seen in humans is due to these sequence variants in APOC3 directly or due to other functional variants in APOC3 or possibly in one of the neighboring apolipoprotein genes.…”