A genome-wide association study of a coronary artery disease risk variant

Lee, Ji Young; Lee, Bok Soo; Shin, Dong Jik; Park, Kyung Woo; Shin, Young Ah; Kim, Kwang Joong; Heo, Lyong; Kim, Yun Kyoung; Kim, Young Jin; Hong, Chang Bum; Lee, Sang Hak; Yoon, Dankyu; Ku, Hyo Jung; Oh, Il Young; Kim, Bong-Jo; Lee, Juyoung; Park, Seon Joo; Kim, Jimin; Kawk, Hye Kyung; Lee, Jong Eun; Park, Hye Kyung; Lee, Jae Eun; Nam, Hyun-Yeol; Park, Hyun-Young; Shin, Chol; Yokota, Mitsuhiro; Asano, Hitoshi; Nakatochi, Masahiro; Kitajima, Hidetoshi; Yamamoto, Ken; Kim, Hyung Lae; Han, Bok Ghee; Cho, Myeong Chan; Jang, Yangsoo; Kim, Hyo Soo; Park, Jeong Euy; Lee, Jong‐Young

doi:10.1038/jhg.2012.124

Cited by 131 publications

(97 citation statements)

References 30 publications

(28 reference statements)

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“…In 2007, three groups independently reported the first region of the genome to be linked to CAD utilizing the GWAS approach (46)(47)(48) Chinese, Korean, or Japanese subjects, with at least 6 of these loci overlapping with loci uncovered in Europeans (63)(64)(65)(66)(67). Thus, both ethnic-specific as well as cross-ethnic loci have been uncovered to date.…”

Section: Discovery Of the First Locus Predisposing To Common Presentamentioning

confidence: 99%

Genetics: Implications for Prevention and Management of Coronary Artery Disease

Assimes

Roberts

2016

Journal of the American College of Cardiology

103

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An exciting new era has dawned for the prevention and management of CAD utilizing genetic risk variants. The recent identification of over 60 susceptibility loci for coronary artery disease (CAD) confirm not only the importance of established risk factors, but also the existence of many novel causal pathways that are expected to improve our understanding of the genetic basis of CAD and facilitate the development of new therapeutic agents over time. Concurrently, Mendelian randomization studies have provided intriguing insights on the causal relationship between CAD-related traits, and highlight the potential benefits of long-term modifications of risk factors. Lastly, genetic risk scores of CAD may serve not only as prognostic, but also as predictive markers and carry the potential to considerably improve the delivery of established prevention strategies. This review will summarize the evolution and discovery of genetic risk variants for CAD and their current and future clinical applications. Key Words: genetic variation, Mendelian randomization, risk scores, sequencingAbbreviations and Acronyms CAD = coronary artery disease GRS = genetic risk score GWAS = genome-wide association study HDL = high-density lipoprotein LDL = low-density lipoprotein MI = myocardial infarction MR = Mendelian randomization SNP = single-nucleotide polymorphism WES = whole-exome sequencing WGS = whole-genome sequencing 3

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Section: Discovery Of the First Locus Predisposing To Common Presentamentioning

confidence: 99%

Genetics: Implications for Prevention and Management of Coronary Artery Disease

Assimes

Roberts

2016

Journal of the American College of Cardiology

103

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“…These populations were listed as separate data sets; all data were extracted independently by two reviewers according to the inclusion criteria. All the consistent datasets by reviewers were Samani et al, 2007;Huang et al, 2008;Muendlein et al, 2009;MIGen Consortium, 2009;Wang et al, 2011;Xie et al, 2011;Guo et al, 2011;Ellis et al, 2011;Gigante et al, 2012;Esparragón et al, 2012;Lee et al, 2013. Discrepancies were recorded and solved by discussion with a third reviewer.…”

Section: Study Populationsmentioning

confidence: 99%

“…Finally, 12 studies (17,766 patients and 20,272 controls) were included in this meta-analysis. Of these, 2 studies were performed in Oceania (Ellis et al, 2011), 7 in Europe and America (Samani et al, 2007;Muendlein et al, 2009;MIGen Consortium et al, 2009;Wang et al, 2011;Gigante et al, 2012;Esparragón et al, 2012), and 4 in Asia (Huang et al, 2008;Xie et al, 2011;Guo et al, 2011;Lee et al, 2013) (Figure 1 …”

Section: Literature Search and Databases For Meta-analysismentioning

confidence: 99%

Association between 1p13.3 genomic markers and coronary artery disease: a meta-analysis involving patients and controls

et al. 2015

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ABSTRACT. Recently, genome-wide association studies on cardiovascular disease identified a series of associated single nucleotide polymorphisms in an intergenic region of chromosome 1p13.3. We investigated the association of this locus with cardiovascular disease in 13 case-control studies and undertook a meta-analysis for effect size, heterogeneity, publication bias, and strength of evidence. English and Chinese language articles were screened for the association of 1p13.3 single nucleotide polymorphisms with coronary heart/artery disease or myocardial infarction as primary outcomes. The included articles provided race, numbers of participants, and the data necessary to compute an odds ratio. Articles were excluded if other outcomes were reported or 1p13.3 single nucleotide polymorphisms were not included. Thirtyfive articles were initially identified and 12 were eventually included in the meta-analysis. rs599839 and rs646776, representing the 1p13.3 locus, were genotyped in 13 case-control studies involving a total of 17,766 patients and 20,272 controls. For rs599839 (11 data sets), using a random-effect model, the summary odds ratio was 1.17 (95% con-9093 Association between 1p13.3 and coronary artery disease ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (3): 9092-9102 (2015) fidence interval = 1.07-1.28, P = 0.0001). For rs646776 (4 data sets), using a fixed-effects model, the summary odds ratio was 1.13 (95% confidence interval = 1.06-1.21, P = 0.0001). This broad replication provided unprecedented evidence for an association between genetic variants at chromosome 1p13.3 and the risk of cardiovascular disease.

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“…GWAS represent an essentially unbiased approach capable of simultaneously assessing thousands of genetic variants across the whole genome for association with CAD or H. pylori infection. To date, multiple GWAS have identified >50 common genetic susceptibility loci independently associated with CAD (41)(42)(43)(44). Two studies identified four single nucleotide polymorphisms (SNPs: rs4833095, rs10004195, rs368433 and rs10502974) located in different genes that were associated with H. pylori infection using GWAS (45,46).…”

Section: Discussionmentioning

confidence: 99%

“…CAD and H. pylori infection could potentially share common factors of genetic susceptibility. Genetic loci associated with host susceptibility to CAD or H. pylori infection have been identified using genome-wide association studies (GWAS) in recent years (41)(42)(43)(44)(45)(46). GWAS represent an essentially unbiased approach capable of simultaneously assessing thousands of genetic variants across the whole genome for association with CAD or H. pylori infection.…”

Section: Discussionmentioning

confidence: 99%

Association between Helicobacter pylori infection and angiographically demonstrated coronary artery disease: A meta-analysis

Yang

Feng

et al. 2017

Experimental and Therapeutic Medicine

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Abstract. Coronary artery disease (CAD) is a leading cause of mortality globally. However, the etiology and pathogenesis of CAD are not fully understood. The aim of the present meta-analysis was to estimate the association between the risk of CAD and Helicobacter pylori (H. pylori) infection. A literature search was performed to identify eligible studies published prior to August 14, 2014. Fixed or random effect meta-analytical methods were used to pool the data and perform the subgroup analyses. The effect measures estimated were the odds ratios (OR) for dichotomous data reported with 95% confidence intervals (95% CI). Of the 109 studies identified using the search parameters, 26 cross-sectional studies were eligible involving 3,901 CAD patients and 2,751 controls. H. pylori infection was associated with an increased risk of CAD (OR: 1.96, 95% CI: 1.47-2.63, P<0.00001). When the adjusted ORs were used to conduct another meta-analysis, the OR value decreased, but the association remained significant (OR: 1.42, 95% CI: 1.09-1.86, P=0.008). The association between H. pylori infection and CAD risk was stronger in younger individuals than in older individuals (OR: 2.36, 95% CI 1.50-3.73 vs. OR: 1.59, 95% CI: 1.19-2.11). A significant association was observed in studies from Europe (OR: 2.11, 95% CI: 1.54-2.88, P=0.01) and the USA (OR: 1.43, 95% CI: 1.08-1.91, P=0.36). There is a potential association between H. pylori infection and the risk of CAD. The association may be influenced by age and ethnicity. IntroductionCoronary artery disease (CAD), also known as ischemic heart disease (IHD), atherosclerotic heart disease, atherosclerotic cardiovascular disease and coronary heart disease, is a leading cause of mortality globally. It is reported to have caused 7.4 million mortalities (13.2% of all deaths) in 2012 worldwide (1). The etiology and pathogenesis of CAD are not fully understood. The common risk factors, including hypertension, diabetes mellitus, smoking, obesity, serum lipids, family history and socioeconomic status, do not fully account for all cases (2). Chronic infections, including Helicobacter pylori (H. pylori) infection, are assumed to play a role in the pathogenesis of CAD (3).H. pylori is a gram-negative bacterium infecting more than half the world's population (4). The infection results in chronic gastritis, peptic ulcer disease and gastric cancer (5).It is also associated with extra-gastrointestinal conditions, including diabetes mellitus and stroke (6,7). Previous studies have focused on the association between H. pylori infection and the risk of CAD. However, the role of H. pylori in CAD remains unclear (8,9).Studies in which the potential association between H. pylori infection and CAD has been investigated have shown conflicting results. In the majority of studies, CAD was diagnosed using clinical questionnaires or on the basis of abnormalities on electrocardiograms. As patients with other diseases may also present with chest pain syndromes similar to CAD, these diagnostic methods would result i...

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A genome-wide association study of a coronary artery disease risk variant

Cited by 131 publications

References 30 publications

Genetics: Implications for Prevention and Management of Coronary Artery Disease

Genetics: Implications for Prevention and Management of Coronary Artery Disease

Association between 1p13.3 genomic markers and coronary artery disease: a meta-analysis involving patients and controls

Association between Helicobacter pylori infection and angiographically demonstrated coronary artery disease: A meta-analysis

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