Identification Of New Single‐Nucleotide Polymorphisms In The Thrombin Receptor Gene And Their Effects On Coronary Artery Diseases In Koreans

Park, H. Y.; Nabika, Toru; Jang, Yangsoo; Kim, D.; Kim, H. S.; Masuda, Junichi

doi:10.1046/j.1440-1681.2000.03321.x

Cited by 15 publications

(5 citation statements)

References 27 publications

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“…PAR-1 polymorphisms have been investigated in other disease contexts and positive associations have been found for venous thromboembolism (37), coronary heart disease (28), liver fibrosis (24), and MI (15). Interestingly, in the context of heart disease, PAR-1 variants, including the rs2227744A allele located in the F2R promoter, have been shown to associate with increased inflammation and MI (15).…”

Section: Discussionmentioning

confidence: 99%

Impact of a functional polymorphism in the PAR-1 gene promoter in COPD and COPD exacerbations

Platé

Lawson

Hill

et al. 2014

American Journal of Physiology-Lung Cellular and Molecular Phys

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Proteinase-activated receptor-1 (PAR-1) plays a key role in mediating the interplay between coagulation and inflammation in response to injury. The aim of this study was to investigate the role of the promoter single-nucleotide polymorphism (SNP) rs2227744G>A in modulating PAR-1/F2R gene expression in the context of chronic obstructive pulmonary disease (COPD) and COPD exacerbations. The function of the rs2227744G>A SNP was investigated by using reporter gene assays. The frequency of the polymorphism in the UK population was assessed by genotyping 8,579 healthy individuals from the Whitehall II and English Longitudinal Study of Ageing cohorts. The rs2227744G>A SNP was genotyped in a carefully phenotyped cohort of 203 COPD cases and matched controls. The results were further replicated in two different COPD cohorts. The minor allele of the rs2227744G>A polymorphism was found to increase F2R expression by 2.6-fold (P < 0.001). The rs2227744G>A SNP was not significantly associated with COPD, or with lung function, in all cohorts. The minor allele of the SNP was found to be associated with protection from frequent exacerbations (P = 0.04) in the cohort of COPD patients for which exacerbation frequency was available. Considering exacerbations as a continuous variable, the presence of the minor allele was associated with a significantly lower COPD exacerbation rate (3.03 vs. 1.98 exacerbations/year, Mann-Whitney U-test P = 0.04). Taken together, these data do not support a role for the rs2227744G>A F2R polymorphism in the development of COPD but suggest a protective role for this polymorphism from frequent exacerbations. Studies in separate cohorts to replicate these findings are warranted.

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Section: Discussionmentioning

confidence: 99%

Impact of a functional polymorphism in the PAR-1 gene promoter in COPD and COPD exacerbations

Platé

Lawson

Hill

et al. 2014

American Journal of Physiology-Lung Cellular and Molecular Phys

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“…SSCP detection was done in 48 CAD patients as described previously (7,8). Briefly, fifteen overlapping fragments with sizes between 246 and 136 bps were amplified by PCR using 32 P-endlabeled primers.…”

Section: Polymerase Chain Reaction (Pcr)-sscpmentioning

confidence: 99%

Association of G-33A Polymorphism in the Thrombomodulin Gene with Myocardial Infarction in Koreans.

et al. 2002

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Thrombomodulin (TM), a thrombin receptor expressed on the endothelial surface, is known to play an important role in the anti-thrombogenic system in vivo. In this study, we examined the effects of 3 single-nucleotide polymorphisms (SNPs) in the TM gene (G 33A, C1418T and C1922T) on the development of myocardial infarction (MI) in Koreans. We found that G 33A was a common SNP (the minor allele frequency was 0.09) in Koreans. Eighty-five MI patients who had received coronary angiography were enrolled and were di-

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“…However, PCR-SSCP analysis of ITS2 can not be used to identify hybrids between shortleaf and loblolly pine because these two species have the same nuclear rDNA ITS2 nucleotide sequences, based on our unpublished data. Recently, PCR-SSCP has been employed to study microsatellite polymorphism (Habano et al 2000;Park et al 2000).…”

Section: Significance Of Our Modified 'Cold' Pcr-sscp Protocol In Popmentioning

confidence: 99%

Paternal chloroplast inheritance patterns in pine hybrids detected with trnL–trnF intergenic region polymorphism

2002

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The inheritance patterns of the chloroplast genomes of shortleaf pine ( Pinus echinata Mill.), loblolly pine ( Pinus taeda L.) and slash pine ( Pinus elliottii Engelm.) were investigated through the trnL-trnF intergenic spacer polymorphism analysis. The DNA sequences of this spacer differ among these three closely related Pinus species. A modified 'cold' PCR-SSCP (single-strand conformation polymorphism) analysis of this spacer shows that the artificial hybrids (F1) from the shortleaf pine (seed parent) x loblolly pine (pollen parent) cross, exhibit the loblolly pine profile. Additionally, nine putative hybrids between shortleaf pine and loblolly pine, previously identified by the IDH (Isocitrate dehydrogenase) allozyme marker, presented the shortleaf pine profile indicating that shortleaf pine, not loblolly pine, sired all of the putative hybrids. Nondenatured polyacrylamide-gel electrophoresis of the trnL-trnF intergenic spacer demonstrated that the artificial hybrids (F1) from the cross, slash pine (seed parent) x shortleaf pine (pollen parent), present the shortleaf pine profile. Those results confirmed that the chloroplast genome is paternally inherited in these three species of the genus Pinus. The significance of the trnL-trnF intergenic region polymorphism and our modified 'cold' SSCP protocol for population genetic studies is discussed.

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Identification Of New Single‐Nucleotide Polymorphisms In The Thrombin Receptor Gene And Their Effects On Coronary Artery Diseases In Koreans

Cited by 15 publications

References 27 publications

Impact of a functional polymorphism in the PAR-1 gene promoter in COPD and COPD exacerbations

Impact of a functional polymorphism in the PAR-1 gene promoter in COPD and COPD exacerbations

Association of G-33A Polymorphism in the Thrombomodulin Gene with Myocardial Infarction in Koreans.

Paternal chloroplast inheritance patterns in pine hybrids detected with trnL–trnF intergenic region polymorphism

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