Replication studies for the association of PSMA6 polymorphism with coronary artery disease in East Asian populations

Hinohara, Kunihiko; Nakajima, Toshiaki; Sasaoka, Taishi; Sawabe, Motoji; Lee, Bok-Soo; Ban, Jimin; Park, Jeong-Euy; Izumi, Toru; Kimura, Akinori

doi:10.1038/jhg.2009.22

Cited by 15 publications

(15 citation statements)

References 17 publications

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“…Several GWA studies have found that subjects carrying mutant alleles of SNPs rs1470579 and rs4402960 in IGF2BP2 gene showed a moderately increased risk of T2DM. Several studies have confirmed this result in Asian populations [30,57,78,79]. T2DM patients with different IGF2BP2 genotypes showed various levels of insulin secretion.…”

Section: Igf2bp2supporting

confidence: 54%

Pharmacogenetics for T2DM and Anti-Diabetic Drugs

Huang¹,

Liu²

2011

Recent Advances in the Pathogenesis, Prevention and Management of Type 2 Diabetes and Its Complications

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Section: Igf2bp2supporting

confidence: 54%

Pharmacogenetics for T2DM and Anti-Diabetic Drugs

Huang¹,

Liu²

2011

Recent Advances in the Pathogenesis, Prevention and Management of Type 2 Diabetes and Its Complications

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“…[15][16][17] Briefly, the Japanese panels were composed of CAD cases (n¼622) and controls (n¼1402). The Japanese controls included healthy individuals selected at random (n¼656) and healthy-donor-derived B-cell lines obtained from the Japan Health Sciences Foundation (n¼746).…”

Section: Materials and Methods Subjectsmentioning

confidence: 99%

“…The diagnosis of CAD was based on the standard criteria as described previously. [15][16][17] In brief, the diagnosis of MI was based on typical electrocardiographic changes, increased serum levels of creatinine kinase, aspartate aminotransferase, and lactate dehydrogenase and increased serum concentration of troponin T. The diagnosis was confirmed by the presence of a wall motion abnormality on left ventriculography and by the identification of responsible stenosis in the coronary arteries on coronary angiography. On the other hand, AP was diagnosed by the clinical manifestation of sudden chest pain, transient electrocardiographic changes, and significant stenosis of the coronary arteries found in coronary angiography.…”

Section: Materials and Methods Subjectsmentioning

confidence: 99%

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Validation of eight genetic risk factors in East Asian populations replicated the association of BRAP with coronary artery disease

et al. 2009

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Coronary artery disease (CAD) is caused by a thrombotic occlusion or spasm of the coronary artery. Association of genetic variants with susceptibility to CAD has been reported in various populations, but the association should be replicated in other populations to establish the role of genetic variants in CAD. We conducted a case-control study with a total of 1480 CAD cases and 2115 controls from two East Asian populations, Japanese and Korean, to validate the associations of CAD with eight single nucleotide polymorphisms (SNPs) in eight loci, which were identified from large-scale whole-genome association studies in Europeans or East Asians. Among the tested SNPs, one SNP in BRAP (rs11066001) showed a significant association in allele frequency distribution with CAD in both the Japanese (Odds ratio (OR)¼1.63, 95% confidence interval (CI); 1.41-1.89, P¼5.0Â10 À11 , corrected P (Pc)¼4.0Â10 À10 ) and Korean populations (OR¼1.68, 95% CI; 1.41-2.00, P¼6.5Â10 À9 , Pc¼5.2Â10 À9 ), and a meta-analysis showed a significant association in the East Asian populations (OR¼1.65, 95% CI; 1.48-1.85, P¼1.8Â10 À18 , Pc¼1.4Â10 À17 ), whereas no evidence of association was found for the other SNPs. In addition, a combined analysis of BRAP and another CAD locus on 9p21 suggested that these loci had a synergistic role in the susceptibility. Failure to replicate the association with the other SNPs, which were reported in the European populations, suggested that their contributions to CAD were not large enough to be readily captured in the East Asian populations.

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“…[6][7][8] Briefly, the Japanese panels were composed of CAD cases (n¼621) and controls (n¼1275). The cases included 575 MI cases and 46 AP cases, whereas the controls comprised healthy individuals selected at random (n¼539) and healthy donor-derived B-cell lines obtained from the Japan Health Sciences Foundation (n¼736).…”

Section: Methods Subjectsmentioning

confidence: 99%

Validation of the association between AGTRL1 polymorphism and coronary artery disease in the Japanese and Korean populations

et al. 2009

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Coronary artery disease (CAD) and stroke are the major health problems in many countries because of their increasing prevalence and high mortality. It is well known that CAD and stroke are based on atherosclerosis and shared environmental and genetic risk factors. Recently, an association of a functional sequence variation À154G4A in the angiotensin receptor-like 1 (AGTRL1) with a susceptibility to stroke was reported. In this study, we investigated a total of 1479 CAD cases and 2062 controls from the Japanese and Korean populations to validate the association of AGTRL1 with CAD. However, we obtained no evidence of the association in both the Japanese (odds ratio (OR)¼0.95, 95% confidence interval (CI); 0.82-1.10, P¼0.47, allele count model) and Korean (OR¼0.90, 95% CI; 0.77-1.05, P¼0.18, allele count model) populations. In addition, there was no trend of association between the risk allele and severity of coronary atherosclerosis. These data suggested that AGTRL1 did not contribute much to the atherosclerosis of the coronary artery. Keywords: coronary artery disease; AGTRL1; single nucleotide polymorphism; case-control study INTRODUCTIONCoronary artery disease (CAD) is caused by the thrombotic occlusion of coronary arteries and becomes a major health problem in many countries. CAD is mainly based on the atherosclerosis of the coronary artery and often manifests with sudden chest pain because of reversible (angina pectoris, AP) or irreversible (myocardial infarction, MI) ischemia in the heart caused by the decreased blood flow in the coronary arteries.Stroke, in particular, ischemic stroke is caused by the thrombotic occlusion of cerebral arteries associated with atherosclerosis, which shares at least in part pathogenic mechanisms and risk factors such as smoking, hypertension, hypercholesterolemia and diabetes mellitus with CAD, 1 and recent genome-wide association studies have identified polymorphism on chromosome 9p21 as a common risk variant for both stroke and CAD. [2][3][4] In addition, Hata et al. 5 recently reported that angiotensin receptor-like 1 (AGTRL1) was highly expressed in the cardiovascular system and the central nervous system and that a functional sequence variation À154G4A (rs9943582) in the 5¢-anking region of AGTRL1 was associated with the stroke in Japanese; the G allele frequencies were 0.721 and 0.666 in patients and controls, respectively (OR¼1.30, 95% CI; 1.14-1.47, P¼6.6Â10 À5 ).

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Replication studies for the association of PSMA6 polymorphism with coronary artery disease in East Asian populations

Cited by 15 publications

References 17 publications

Pharmacogenetics for T2DM and Anti-Diabetic Drugs

Pharmacogenetics for T2DM and Anti-Diabetic Drugs

Validation of eight genetic risk factors in East Asian populations replicated the association of BRAP with coronary artery disease

Validation of the association between AGTRL1 polymorphism and coronary artery disease in the Japanese and Korean populations

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