Variation at the apo AI/CIII/A1V gene complex is associated with elevated plasma levels of apo CIII

Shoulders, Carol C.; Harry, P.; Lagrost, Laurent; White, Suzanne; Shah, Nabi; North, J D; Gilligan, Mary Ann; Gambert, Philippe; Ball, Madeleine J.

doi:10.1016/0021-9150(91)90026-y

Cited by 97 publications

(68 citation statements)

References 34 publications

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“…The biochemical basis for the association of G allele with hypertriglyceridemia has yet to be established. Dallinga-Thie et al (25,26) and Shoulders et al (27,28) reported an association between levels of apo-CIII and G allele. The Sst I polymorphism is located in the 3'untranslated region of apo-CIII gene.…”

Section: Resultsmentioning

confidence: 97%

Apolipoprotein CIII polymorphism and triglyceride levels of a Japanese population living in Southern Brazil

Parzianello

Oliveira

Coelho

2008

Braz J Med Biol Res

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Apolipoprotein CIII (apo-CIII) participates in the regulation of triglyceride-rich lipoprotein metabolism. Several polymorphic sites have been detected within and around the apo-CIII gene. Here, we examined the relationship between apo-CIII Sst I polymorphism (CC, CG, GG genotypes) and plasma triglyceride (TG) levels in a group of 159 Japanese individuals living in Southern Brazil. The sample was divided into a group of Japanese descendants (N = 51) with high TG (HTG; >200 mg/dL) and a group of Japanese descendants (N = 108) with normal TG (NTG; <200 mg/dL). TG and total cholesterol levels were analyzed by an enzymatic method using the Labtest-Diagnostic kit and high-and low-density lipoproteins by a direct method using the Labtest-Diagnostic kit and DiaSys Diagnostic System International kit, respectively. A 428-bp sequence of apo-CIII gene was amplified using oligonucleotide primers 5' GGT GAC CGA TGG CTT CAG TTC CCT GA 3' and 5' CAG AAG GTG GAT AGA GCG CTG GCC T 3'. The PCR products were digested with a restriction endonuclease Sst I. Rare G allele was highly prevalent in our study population (0.416) compared to Caucasians (0.00-0.11). G allele was almost two times more prevalent in the HTG group compared to the NTG group (P < 0.001). The genotype distribution was consistent with the Hardy-Weinberg equilibrium. There was a significant association between rare G allele and HTG in Japanese individuals living in Southern Brazil as indicated by one-way ANOVA, P < 0.05.

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Section: Resultsmentioning

confidence: 97%

Apolipoprotein CIII polymorphism and triglyceride levels of a Japanese population living in Southern Brazil

Parzianello

Oliveira

Coelho

2008

Braz J Med Biol Res

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“…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.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2004

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Hypertriglyceridemia (HTG) is known as a common metabolic disorder associated with increased production, decrease catabolism and/or decreased hepatic uptake of triglyceride (TG)-rich particles. We assessed, in the Que´bec City population, the allele frequency and haplotype distributions of mutations in genes related to HTG, such as the apolipoprotein E (APOE) (C112R and C158R), the apolipoprotein CIII (APOC3) (C-482T and C3238G) and the peroxisome proliferator-activated receptor alpha (PPARa) (L162V) genes. A total of 938 anonymous unlinked newborns from the metropolitan Que´bec City area have been genotyped. Allele frequencies observed in the Que´bec City population differed from known frequencies determined in other Caucasian populations. The cotransmitted allele distribution between the two-marker genotypes APOE/APOC3(C3238G) and APOC3(C-482T)/PPARa(L162V) presented a weak deviation from the assumption of genetic independence. Also, we observed a non-independent distribution of the T-482/G3238 allele combinations within the APOC3 gene, suggesting strong linkage disequilibrium between the C-482T and C3238G polymorphisms. Moreover, comparisons of allele frequencies observed in the population of Que´bec City to those obtained in other Caucasian populations suggested that the population of Que´bec City may be at a lower risk of developing HTG due to APOE, APOC3 and PPARa genetic variants. However, the strong linkage disequilibrium and the two-marker genotype distributions observed in the APOC3 gene suggest that these two variants may functionally interact in the Que´bec City population.

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“…This polymorphism may directly modulate the expression of the APOC3 gene (3). Increased levels of apoCIII has been reported in $2 carders (20)(21)(22)(23). It is possible that this site may be involved in mRNA stability because 3' untranslated sequences have been shown to influence the mRNA turnover (30).…”

Section: -38mentioning

confidence: 99%

Study of apolipoproteinc3 Sstl polymorphism in healthy volunteers from Northern India

Chhabra

Agarwal²,

Vasisht

et al. 2003

Indian J Clin Biochem

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Several studies including a small case-control (hypertriglyceridemic / normotriglyceridemic individuals) study by us revealed close association between rare $2 allele of APOC3 Sstl polymorphism and hypertriglyceddemia. With the understanding that Asian Indians are highly vulnerable to the adverse effects of hypertdglyceridemia, we extended the investigation and studied the frequency distribution of this polymorphism in 216 healthy volunteers from Northern plains of India. We found that more than 50% of the study population had one ortwo $2 allele. This may suggest that a larger fraction of this population is genetically predisposed to hypertdglyceddemia.

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Variation at the apo AI/CIII/A1V gene complex is associated with elevated plasma levels of apo CIII

Cited by 97 publications

References 34 publications

Apolipoprotein CIII polymorphism and triglyceride levels of a Japanese population living in Southern Brazil

Apolipoprotein CIII polymorphism and triglyceride levels of a Japanese population living in Southern Brazil

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

Study of apolipoproteinc3 Sstl polymorphism in healthy volunteers from Northern India

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