The genetic effect of the apoprotein AV gene on the serum triglyceride level in Japanese

Nabika, Toru; Nasreen, Shampa; Kobayashi, Shotai; Masuda, Junichi

doi:10.1016/s0021-9150(02)00252-6

Cited by 123 publications

(83 citation statements)

References 5 publications

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“…The four common SNPs and their association with TG have shown the same effect in Caucasian, 4,7,31 African-American, 5,7 Hispanic, 5 Japanese 31,32 and Chinese 31,32 populations.…”

Section: Snps/haplotypes and Plasma Tg Concentrationmentioning

confidence: 84%

“…33,34 Pervious studies reported that the allele frequency ranged from 6 to 8% for Caucasian and Africans, 1,4,7 from 4 to 8% in African Americans, 4,35 was 15% in Hispanics 4,7 and was very rare, that is, 1-3%, in Chinese and Japanese. 10,31,32 The frequencies of the other four SNPs ranged from 9 to 11% for Caucasians, 4,7 13 to 16% for Hispanics, 4,36 6 to 9% for African Americans 1,4 and are in common frequencies of 27 to 37% among East Asian populations. 10,31,[36][37][38] Although all four common polymorphisms at the ApoA5 locus were associated with plasma TG concentrations in Yemenite and Ashkenazi, the possibility that any one of them represents a functional variant is very small because; they are in a strong LD with one or more functional variants that directly affect the TG plasma concentration.…”

Section: Snps/haplotypes and Plasma Tg Concentrationmentioning

confidence: 97%

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Different effects of apolipoprotein A5 SNPs and haplotypes on triglyceride concentration in three ethnic origins

2010

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Several polymorphisms in the ApoA5 gene emerged as important candidate genes in triglyceride metabolism. The aim of this study was to determine the associations between ApoA5 polymorphisms, plasma triglyceride concentrations and the presence of cardiovascular disease (CVD) in three ethnic origins. Genotypes for 15 single nucleotide polymorphisms (SNPs) were determined in 659 older adults (mean age 71 ± 7 years) who immigrated to Israel or whose ancestors originated from East Europe (Ashkenazi), North Africa, Asia (Sephardic) or Yemen (Yemenite). The minor alleles of the four common SNPs (rs662799, rs651821, rs2072560 and rs2266788) are associated with an increase of 27-38% in triglyceride concentration among Ashkenazi and Yemenite Jews compared with the major alleles, but not among those of Sephardic origin. Conversely, among the Sephardic group, the presence of the minor allele in SNP rs3135506 compared with the major allele was associated with an increase of 34% in triglyceride concentration. The four SNPs were in significant linkage disequilibrium (D¢¼0.96-0.99), resulting in three haplotypes H1, H2 and H3, representing 98-99% of the population. Haplotype H2 was significantly associated with triglyceride concentration among Ashkenazi and Yemenite but not among Sephardic Jews. Conversely, haplotype H3 was associated with triglyceride concentration in Sephardic but not in Ashkenazi and Yemenite Jews. Ashkenazi carriers of H2 haplotype had a CVD odds ratio of 2.19 (95% CI: 1.05-4.58) compared with H1 (the most frequent), after adjustment for all other risk factors. These results suggest that different SNPs in ApoA5 polymorphisms may be associated with triglyceride concentration and CVD in each of these ethnic origins.

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“…The four common SNPs and their association with TG have shown the same effect in Caucasian, 4,7,31 African-American, 5,7 Hispanic, 5 Japanese 31,32 and Chinese 31,32 populations.…”

Section: Snps/haplotypes and Plasma Tg Concentrationmentioning

confidence: 84%

Section: Snps/haplotypes and Plasma Tg Concentrationmentioning

confidence: 97%

Different effects of apolipoprotein A5 SNPs and haplotypes on triglyceride concentration in three ethnic origins

2010

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“…C and 1764C . T) have been identified, and their alleles are associated with triglyceride homeostasis in different populations (Nabika et al, 2002;Lai et al, 2004;Klos et al, 2005;Moreno-Luna et al, 2007). At the same time, two major haplotypes (21131T .…”

Section: Discussionmentioning

confidence: 99%

Molecular cloning, expression and polymorphism of the porcine apolipoprotein A5 gene in a Jinhua × Pietrain F2 reference population

Zhang

Jiang

Hua

et al. 2010

Animal

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As a newly described member of the apolipoprotein gene family, apolipoprotein A5 (APOA5) has been suggested to play a key role in the triglyceride metabolism in both human and mice. The aim of this study was to identify the porcine (Sus scrofa) APOA5 gene, determine its mRNA and its mutations that are associated with lipid accumulation. The porcine APOA5 cDNA was amplified by reverse transcriptase polymerase chain reaction using the information of the mouse or other mammals. It had been determined that the open reading frame of the porcine APOA5 gene consists of 1092 bp, which encodes a predicted protein composed of 363 amino acids with a similarity to bovine (80.43%) and to human (78.47%). The expression analysis indicated that the porcine APOA5 gene was expressed in hypophysis, fat and liver. Twelve single nucleotide polymorphisms (SNPs), including 4 SNPs in the 5 0 end, 1 SNP in second intron, 1 SNP in third exon and 6 SNPs in the 3 0 end, were identified in the porcine APOA5 gene and genotyped on the Jinhua 3 Pietrain F 2 reference population, it had revealed that the SNP of C1834T was significantly associated with average backfat thickness and leaf fat weight ( P , 0.01 and P , 0.05, respectively). In conclusion, this study has got basic information of the porcine APOA5 gene and provides evidence that the APOA5 gene could be a potential candidate gene for fat deposition.

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“…An excellent example of this concept emerged with the discovery of a previously unknown member of the exchangeable apolipoprotein family, apoA-V. Whereas genetic studies illustrate the important role played by apoA-V in plasma lipid metabolism, particularly TG metabolism (6,22,23), questions remain about the mechanism whereby apoA-V exerts its biological effects. The goal of determining how apoA-V influences plasma TG levels requires additional knowledge of the protein itself.…”

Section: Discussionmentioning

confidence: 99%

Structure−Function Studies of Human Apolipoprotein A-V: A Regulator of Plasma Lipid Homeostasis

et al. 2003

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To investigate structure and function relations of a new member of the exchangeable apolipoprotein family that modulates plasma lipid levels, recombinant human apolipoprotein (apo) A-V was produced in Escherichia coli and isolated by a combination of nickel chelation affinity chromatography and reversed-phase HPLC. Antibodies directed against apoA-V were generated and employed in immunoblotting experiments. Anti-apoA-V IgG gave a strong response against recombinant apoA-V from E. coli and human apoA-V expressed in transgenic mice, but did not recognize human apoA-I or apoA-IV. In neutral-pH buffers, at concentrations of >0.1 mg/mL, isolated lipid-free apoA-V is poorly soluble. By contrast, apoA-V is soluble in 50 mM sodium citrate (pH 3.0). Far-UV circular dichroism analysis and spectral deconvolution reveal that apoA-V possesses 32% α-helix, 33% β-sheet, 16% β-turn, and 18% random coil secondary structure conformers. Temperature-induced denaturation studies gave rise to a transition midpoint of 47.1 °C. Upon being cooled to ambient temperature from 85 °C, apoA-V failed to recover all of the negative ellipticity present in unheated apoA-V. ApoA-V interacts with bilayer vesicles of dimyristoylphosphatidylcholine to form discoidal complexes with diameters in the range of 15−20 nm. However, apoA-V was a poor activator of lecithin:cholesterol acyltransferase where the activity was 8.5 ± 1.8% of that of apoA-I. Furthermore, apoA-V failed to support enhanced efflux of cholesterol from cAMP-treated J774 macrophages, although low levels of efflux were obtained from unstimulated cells. Taken together, the results demonstrate recombinant apoA-V possesses unique structural and functional characteristics, in keeping with its proposed role in the modulation of plasma lipid levels.

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The genetic effect of the apoprotein AV gene on the serum triglyceride level in Japanese

Cited by 123 publications

References 5 publications

Different effects of apolipoprotein A5 SNPs and haplotypes on triglyceride concentration in three ethnic origins

Different effects of apolipoprotein A5 SNPs and haplotypes on triglyceride concentration in three ethnic origins

Molecular cloning, expression and polymorphism of the porcine apolipoprotein A5 gene in a Jinhua × Pietrain F2 reference population

Structure−Function Studies of Human Apolipoprotein A-V: A Regulator of Plasma Lipid Homeostasis

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