The ALDH2 Glu504Lys polymorphism is associated with coronary artery disease in Han Chinese: Relation with endothelial ADMA levels

Guo, Yi; Chen, Lei; Bai, Yongping; Li, Ling; Sun, Ji; Zhang, Guogang; Yang, Tianlun; Xia, Jian; Li, Yuan‐Jian; Chen, Xiaoping

doi:10.1016/j.atherosclerosis.2010.03.030

Cited by 57 publications

(63 citation statements)

References 27 publications

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“…A similar conclusion was also made regarding a sub-group of patients with an initial onset of ST-segment elevation MI. Recently, another study on the Han Chinese population confirmed this conclusion (Guo et al 2010). The conclusion was confirmed using two independent Han Chinese sample populations, which strongly enhances the reliability of the findings.…”

Section: Aldh2 Polymorphism and Cadsupporting

confidence: 58%

“…This enzyme has an important functional mononucleotide polymorphism rs671 (Glu504Lys polymorphism), which exists primarily in East Asians, with an incidence rate as high as 30-50% (approximately 6% of the world's population) (Li et al 2006;Li et al 2009). Initial studies only focused on the relationship between this polymorphism and alcohol-related diseases, such as hepatitis and digestive system tumors, but in recent years, an increasing number of studies have suggested an important association between ALDH2 Glu504Lys polymorphism and CAD (Takagi et al 2002;Jo et al 2007;Xu et al 2007aXu et al , b, 2011Guo et al 2010). In 2012, a genome-wide association (GWA) study further confirmed that the ALDH2 Glu504Lys polymorphism is associated with the susceptibility to CAD (Takeuchi et al 2012).…”

Section: Introductionmentioning

confidence: 88%

“…A study in a Chinese population found that the serum level of asymmetric dimethylarginine (ADMA) in carriers of the ALDH2 *504Lys allele was significantly higher than in carriers of the wild-type (Guo et al 2010). Further in vitro experiments also demonstrated that umbilical vein endothelial cells carrying the ALDH2 *504Lys allele have significantly higher levels of ADMA synthesis and secretion than those carrying the wild-type (Guo et al 2010).…”

Section: Endothelial Function and Endothelial Nitric Oxide Synthase (mentioning

confidence: 97%

“…In 2012, a genome-wide association (GWA) study further confirmed that the ALDH2 Glu504Lys polymorphism is associated with the susceptibility to CAD (Takeuchi et al 2012). Many groups, includ-ing ours, recently explored underlying mechanisms for the effects of this polymorphism on CAD (Churchill et al 2009;Guo et al 2010;Xu et al 2011;Xue et al 2012;. Several studies, including GWA studies, found that this polymorphism is also related to well-known cardiovascular risk factors, such as dyslipidemia (Hao et al 2010;Wei et al 2013), hypertension (Kato et al 2011), diabetes (Wang et al 2011), or hyperglycemia .…”

Section: Introductionmentioning

confidence: 93%

“…Further in vitro experiments also demonstrated that umbilical vein endothelial cells carrying the ALDH2 *504Lys allele have significantly higher levels of ADMA synthesis and secretion than those carrying the wild-type (Guo et al 2010). ADMA is an endogenous inhibitor of nitric oxide synthase, can cause endothelial dysfunction through a variety of mechanisms, and has been proven to be a risk factor for CAD.…”

Section: Endothelial Function and Endothelial Nitric Oxide Synthase (mentioning

confidence: 99%

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The Glu504Lys Polymorphism of Aldehyde Dehydrogenase 2 Contributes to Development of Coronary Artery Disease

Sun

Shang

et al. 2014

Tohoku J. Exp. Med.

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Coronary artery disease (CAD) is a leading cause of death, and its genetic mechanism has been always a major research concern. Recently, increasing evidence has indicated that the aldehyde dehydrogenase 2 (ALDH2) polymorphism, known as Glu504Lys (rs671), may contribute to CAD development. ALDH2 has been well known as a key enzyme in alcohol metabolism, and subjects with *504Lys allele exist in 30-50% of the East Asian population (6% of the world's population). However, recent studies have indicated that the *504Lys allele of the ALDH2 gene may be associated with the pathogenesis of CAD in a given number of Chinese, Japanese, and Korean people. This discovery has been further confirmed by a genome-wide association study in 2012 that identified the link of ALDH2 Glu504Lys polymorphism to CAD susceptibility. ALDH2 may therefore serve as an important target for CAD intervention. Several studies have suggested that ALDH2 polymorphism plays an important role in the progress of CAD through multiple mechanisms, including the regulation of alcohol consumption, inflammation, endothelial progenitor cells, oxidative stress, asymmetric dimethylarginine, endothelial nitric oxide synthase, and other CAD-promoting factors. Furthermore, the ALDH2 Glu504Lys polymorphism has been shown to be associated with certain traditional cardiovascular risk factors, such as dyslipidemia, hypertension, and diabetes mellitus or hyperglycemia. In this review, we update the current research on the association of the Glu504Lys polymorphism with the susceptibility to CAD. We also highlight and discuss the underlying mechanisms, by which the ALDH2 Glu504Lys polymorphism may be targeted for the prevention and treatment of CAD.

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Section: Aldh2 Polymorphism and Cadsupporting

confidence: 58%

Section: Introductionmentioning

confidence: 88%

Section: Endothelial Function and Endothelial Nitric Oxide Synthase (mentioning

confidence: 97%

Section: Introductionmentioning

confidence: 93%

Section: Endothelial Function and Endothelial Nitric Oxide Synthase (mentioning

confidence: 99%

See 3 more Smart Citations

The Glu504Lys Polymorphism of Aldehyde Dehydrogenase 2 Contributes to Development of Coronary Artery Disease

Sun

Shang

et al. 2014

Tohoku J. Exp. Med.

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Correlations of ALDH2 rs671 and C12orf30 rs4767364 polymorphisms with increased risk and prognosis of esophageal squamous cell carcinoma in the Kazak and Han populations in Xinjiang province

Liu

Zhao

et al. 2017

Clinical Laboratory Analysis

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Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes

Giacomelli

Mummery

Bellin

2017

Cell. Mol. Life Sci.

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Technical advances in generating and phenotyping cardiomyocytes from human pluripotent stem cells (hPSC-CMs) are now driving their wider acceptance as in vitro models to understand human heart disease and discover therapeutic targets that may lead to new compounds for clinical use. Current literature clearly shows that hPSC-CMs recapitulate many molecular, cellular, and functional aspects of human heart pathophysiology and their responses to cardioactive drugs. Here, we provide a comprehensive overview of hPSC-CMs models that have been described to date and highlight their most recent and remarkable contributions to research on cardiovascular diseases and disorders with cardiac traits. We conclude discussing immediate challenges, limitations, and emerging solutions.

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The ALDH2 Glu504Lys polymorphism is associated with coronary artery disease in Han Chinese: Relation with endothelial ADMA levels

Cited by 57 publications

References 27 publications

The Glu504Lys Polymorphism of Aldehyde Dehydrogenase 2 Contributes to Development of Coronary Artery Disease

The Glu504Lys Polymorphism of Aldehyde Dehydrogenase 2 Contributes to Development of Coronary Artery Disease

Correlations of ALDH2 rs671 and C12orf30 rs4767364 polymorphisms with increased risk and prognosis of esophageal squamous cell carcinoma in the Kazak and Han populations in Xinjiang province

Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes

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