Dna Polymorphism Adjacent to Human Apoprotein a-1 Gene: Relation to Hypertriglyceridaemia

Rees, A.; Stocks, J.; Shoulders, Carol C.; Galton, D. J.; Baralle, Francisco E.

doi:10.1016/s0140-6736(83)91440-x

Cited by 223 publications

(68 citation statements)

References 9 publications

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“…In the present study, the G allele frequency in NTG and HTG subjects were 0.347 and 0.559, respectively. The G allele frequency is consistent with ranges reported for Chinese (0.30-0.43) (16), Japanese (0.25-0.48) (18), and Indians (0.36) (20), but is higher than those reported for Caucasians in whom the G allele frequency was 0.00-0.11 (3,(19)(20)(21)(22). The clinical significance of possessing this allele has been demonstrated in some case-control studies that showed a 2-to 5-fold increase in frequency in patient groups with premature coronary heart disease and peripheral vascular disease compared with control groups (23,24).…”

Section: Resultssupporting

confidence: 87%

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: Resultssupporting

confidence: 87%

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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“…We found that the distribution of different genotypes in our study subjects was closer to those reported for Chinese (4), Mayans (5), Japanese (6,7,8), Koreans (9), Taiwanese (10) Arabs (11,12). Frequency of $2 allele was also comparable which is higher in these populations as compared to those from different parts of Europe (2,3,(13)(14)(15)(16)(17), USA (18) and French (Canada) (19) (Table-2). The results corroborates with our previous findings (25).…”

Section: -38supporting

confidence: 80%

“…Table-2 (18) and French (Canada) (19) populations. Most of these studies found a relationship between the presence of $2 allele and hypertriglyceridemia (2)(3)(4)(5)(6)9,11,(13)(14)(15)(16)18,(20)(21)(22). An association of this allele with CAD was also reported (26)(27)(28).…”

Section: ) Genotypic Distribution Was In Agreement Withmentioning

confidence: 98%

“…An Sstl polymorphism resulting from a C->G base transversion in 3' untranslated region of APOC3 gene had been studied extensively in relation to hypertriglyceridemia . Here, the rare $2 allele apparently predisposes an individual to hypertriglyceride mia (2)(3)(4)(5)(6)9,11,(13)(14)(15)(16)18,(20)(21)(22). Asian Indians are reported to have high genetic predisposition to develop CAD.…”

Section: Introductionmentioning

confidence: 99%

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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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“…In addition, one patient with marked HDL deficiency and undetectable plasma apo A-l and apo A-ll was reported. 148 Recently, polymorphism in a DNA sequence on the 3'-flanking region of the human apo A-l gene was found 149 by using an apo A-l gene probe. The frequency of the heterozygous state for this polymorphism was 5% in 73 healthy controls, and 30% in 33 hypertriglyceridemic subjects.…”

Section: Po A-l Variantsmentioning

confidence: 99%

Clinical, biochemical, and genetic features in familial disorders of high density lipoprotein deficiency.

Schaefer¹

1984

Arteriosclerosis

162

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P lasma high density lipoproteins (HDL, density = 1.063 -1.21 g/ml) mostly have alpha mobility on lipoprotein electrophoresis, and are composed (weight %) of approximately 50% protein, 25% phospholipid, 20% cholesterol (mainly esterified), and triglyceride. 1 " 1 Fluctuations in HDL levels have been associated largely with alterations in HDL (d = 1.063-1.125 g/ml). 5 Cholesterol is the HDL constituent commonly measured (following precipitation of other lipoproteins), and decreased plasma HDL cholesterol concentrations have been associated with premature coronary artery disease (CAD).*" 11 The normal values for this parameter are given in Table 1.

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Dna Polymorphism Adjacent to Human Apoprotein a-1 Gene: Relation to Hypertriglyceridaemia

Cited by 223 publications

References 9 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

Study of apolipoproteinc3 Sstl polymorphism in healthy volunteers from Northern India

Clinical, biochemical, and genetic features in familial disorders of high density lipoprotein deficiency.

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