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

Arai, Hidenori; Yamamoto, Akira; Matsuzawa, Yūji; Saitō, Yasushi; Yamada, Nobuhiro; Oikawa, Shinichi; Mabuchi, Hiroshi; Teramoto, Tamio; Sasaki, Jun; Nakaya, Noriaki; Itakura, Hiroshige; Ishikawa, Yuichi; Ouchi, Yasuyoshi; Horibe, Hiroshi; Egashira, Tohru; Hashimoto, Hiroaki; Shirahashi, Nobuo; Kita, Toru

doi:10.5551/jat.12.240

Cited by 36 publications

(22 citation statements)

References 55 publications

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“…The allele frequency of the S447X polymorphism in this population was 12.5%, similar to the frequency previously reported in Caucasian populations in Europe, Australia, North America and Japan 4,[24][25][26][27] . This study represents the first description that the S447X polymorphism was significantly associated with increased adiponectin levels, independent of HDL-C.…”

Section: Discussionsupporting

confidence: 65%

S447X Polymorphism in the Lipoprotein Lipase Gene and the Adiponectin Level in the General Population: Results from the Mima Study

Fujiwara

Kotani

Sano

et al. 2009

JAT

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Aim: Lipoprotein lipase (LPL) plays an important role in lipid metabolism. There is an association between the common S447X polymorphism in the LPL gene and high-density lipoprotein cholesterol (HDL-C) levels, and some association between circulating HDL-C and adiponectin levels has been suggested; however, it is not known whether there is any association between the S447X polymorphism and adiponectin levels. The aim of this study was to investigate whether the LPL S447X polymorphism was associated with adiponectin in the general population. Methods: LPL S447X was analyzed in 277 community-dwelling subjects (123 men and 154 women, mean age; 65 13 years) in the Mima study. Whole samples were genotyped using a fluorescent allele-specific DNA primer assay system. The allele frequencies and any associations with serum lipid and adiponectin levels were investigated. Results: The allele frequencies were S 0.875 and X 0.125 for the LPL S447X polymorphism. The carriers of the X allele had significantly higher levels of adiponectin and HDL-C than non-carriers. The presence of the X allele was significantly associated with higher adiponectin levels, independent of age, sex, body mass index, smoking and HDL-C in multiple regression analyses. Conclusion: The LPL S447X polymorphism might therefore be significantly associated with higher adiponectin levels, independent of HDL-C. J Atheroscler

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Section: Discussionsupporting

confidence: 65%

S447X Polymorphism in the Lipoprotein Lipase Gene and the Adiponectin Level in the General Population: Results from the Mima Study

Fujiwara

Kotani

Sano

et al. 2009

JAT

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“…We found that the SNPs were in Hardy-Weinberg equilibrium. As previously described, the mean age, total cholesterol, TG, HDL-cholesterol, and LDLcholesterol levels in this population were similar to the levels for all 12,839 patients in Serum Lipid Survey 2000 14) . We also found that the medians of total, LDL-, and HDL-cholesterol levels did not differ appreciably from the means, thereby excluding gross right-hand tailing of the distribution (data not shown).…”

Section: Resultsmentioning

confidence: 51%

Polymorphisms of Apolipoprotein E and Methylenetetrahydrofolate Reductase in the Japanese Population

Arai

Yamamoto

Matsuzawa

et al. 2007

JAT

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Aim:The aim of this study is to analyze the effect of apolipoprotein E (apo E) and methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms on serum lipid and homocysteine levels in the general Japanese population. Methods: We analyzed the polymorphisms in individuals randomly selected from among participants of Serum Lipid Survey 2000. Results: The frequency of the 2, 3, and 4 alleles of APOE was 4.2, 85.3, and 10.5%, respectively. Individuals with the genotype 4/ 4 had the highest total and low-density lipoprotein (LDL) cholesterol levels, while those with 2/ 2 had the lowest. Individuals with the 2/ 2 and 2/ 4 genotypes had higher remnant-like particles (RLP)-cholesterol levels than those with 2 3, 3 3, and 3 4. There was a trend for individuals with the 2/ 4 and 2/ 2 genotypes to have higher triglyceride levels, although the difference was not significant. The presence of the T allele in a MTHFR polymorphism (C667T) was associated with higher homocysteine levels, which is more prominent in men than in women. Conclusion: Thus in our large-scale analysis we have shown that RLP-cholesterol is better associated with APOE genotype than triglyceride and the effect of the T allele on MTHFR polymorphism (C667T) homocysteine levels is more prominent in men than in women among Japanese.

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“…Subjects 1 and 2 were marked HALP with homozygotes of CETP mutation, but subjects with heterozygotes in this study had various HDL-C levels. Other than CETP, LIPC and LPL are responsible for elevated HDL-C level, and T allele of LIPC gene -514C/T polymorphism and 447X allele of LPL gene S447X polymorphism are well known to both cause 3 mg/dL of elevated HDL-C levels in Japanese (LIPC -514T allele: 75%, LPL 447X allele: 22% in Japanese population) [22,23]. If subjects who have a heterozygote of CETP mutation but rather high levels of HDL-C, further analysis involving endothelial lipase [24] and scavenger receptor class B type I (SR-BI) [25,26] activities is needed.…”

Section: Discussionmentioning

confidence: 99%

Novel mutations of cholesteryl ester transfer protein (CETP) gene in Japanese hyperalphalipoproteinemic subjects

Ohtani

Inazu

Noji

et al. 2012

Clinica Chimica Acta

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Background: The half of hyperalphalipoproteinemia (HALP) in Japan is caused by CETP gene mutations. Other than two prevalent mutations (D442G and Intron 14 splicing donor site +1 G>A), some rare CETP mutations are found in Japanese HALP subjects.Methods: CETP gene analysis of genomic DNA from subjects was performed by restriction fragment length polymorphism (RFLP) and sequencing analysis. Mutations which were suspected to cause a splicing defect or a protein secretion defect were investigated in COS-1 cells transfected with a CETP minigene construct or a cDNA expression vector.Results: Each of three subjects was identified as a carrier of CETP gene mutation of a compound heterozygote of c.653_654delGGinsAAAC and Intron 14 splicing donor site +1 G>A, a heterozygote of c.658G>A or a homozygote of L261R. The c.658G>A mutation was located at the last nucleotide of exon 7, and it was confirmed to cause splicing abnormality revealed by the CETP minigene analysis. The L261R CETP was not secreted to conditioned media of the cells.Conclusions: Three novel CETP gene mutations are responsible for HALP by CETP deficiency. It is predicted that there are more rare CETP gene mutations in Japanese, and these multiple rare mutations alone or a combination with each of prevalent mutations responsible for mild-to-moderate or marked HALP, respectively.3

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

Cited by 36 publications

References 55 publications

S447X Polymorphism in the Lipoprotein Lipase Gene and the Adiponectin Level in the General Population: Results from the Mima Study

S447X Polymorphism in the Lipoprotein Lipase Gene and the Adiponectin Level in the General Population: Results from the Mima Study

Polymorphisms of Apolipoprotein E and Methylenetetrahydrofolate Reductase in the Japanese Population

Novel mutations of cholesteryl ester transfer protein (CETP) gene in Japanese hyperalphalipoproteinemic subjects

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