Replicated association between genetic variation in the PARK2 gene and blood pressure

Jin, Hyun‐Seok; Hong, Kyung‐Won; Kim, Boyoung; Kim, Jeonghyun; Yoo, Young Hyun; Oh, Bermseok; Jeong, Seon‐Yong

doi:10.1016/j.cca.2011.05.026

Cited by 10 publications

(5 citation statements)

References 37 publications

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“…Up to date, some studies have discovered genetic variants associated BP via GWAS using KARE subjects [27-30]. These studies have identified 8 genes, PARK2, OPA1, ATP2B1, CSK, ARSG, CSMD1, CYP17A1 and PLEKHA7 that located SNPs associated BP or hypertension.…”

Section: Discussionmentioning

confidence: 99%

Identification of a genetic variant at 2q12.1 associated with blood pressure in East-Asians by genome-wide scan including gene-environment interactions

Kim

Hwang

et al. 2014

BMC Med Genet

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BackgroundGenome-wide association studies have identified many genetic loci associated with blood pressure (BP). Genetic effects on BP can be altered by environmental exposures via multiple biological pathways. Especially, obesity is one of important environmental risk factors that can have considerable effect on BP and it may interact with genetic factors. Given that, we aimed to test whether genetic factors and obesity may jointly influence BP.MethodsWe performed meta-analyses of genome-wide association data for systolic blood pressure (SBP) and diastolic blood pressure (DBP) that included analyses of interaction between single nucleotide polymorphisms (SNPs) and the obesity-related anthropometric measures, body mass index (BMI), height, weight, and waist/hip ratio (WHR) in East-Asians (n = 12,030).ResultsWe identified that rs13390641 on 2q12.1 demonstrated significant association with SBP when the interaction between SNPs and BMI was considered (P < 5 × 10 -8). The gene located nearest to rs13390641, TMEM182, encodes transmembrane protein 182. In stratified analyses, the effect of rs13390641 on BP was much stronger in obese individuals (BMI ≥ 30) than non-obese individuals and the effect of BMI on BP was strongest in individuals with the homozygous A allele of rs13390641.ConclusionsOur analyses that included interactions between SNPs and environmental factors identified a genetic variant associated with BP that was overlooked in standard analyses in which only genetic factors were included. This result also revealed a potential mechanism that integrates genetic factors and obesity related traits in the development of high BP.

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Section: Discussionmentioning

confidence: 99%

Identification of a genetic variant at 2q12.1 associated with blood pressure in East-Asians by genome-wide scan including gene-environment interactions

Kim

Hwang

et al. 2014

BMC Med Genet

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“…In addition to the multi-omics integration method, conventional genetic association studies, such as replication association study and candidate gene association study, have been used to find or evaluate susceptible genes for diseases (Jin et al, 2011;Jin & Eom, 2012a;Jin et al, 2014;Jin & Eom, 2012b). Our results suggest that the multi-omics integration method, which uses web sources of variations, gene expression, and various omics database, could be one of the conventional genetic association studies for identifying disease-related genes.…”

Section: Htr1e Genes With Osteoporosismentioning

confidence: 92%

Association of the TREML2 and HTR1E Genetic Polymorphisms with Osteoporosis

Jung

Jin

2015

BSL

Self Cite

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Osteoporosis is one of the diseases caused by accumulation of effects from complex interactions between genetic and environmental factors. Aging is the major cause for osteoporosis, which normally increases skeletal fragility and bone fracture especially among the elder. "Omics" refers to a specialized research field dealing with high-throughput biological data, such as genomics, transcriptomics, proteomics or metabolomics. Integration of data from multi-omics has been approved to be a powerful strategy to colligate biological phenomenon with multiple aspects. Actually, integrative analyses of "omics" datasets were used to present pathogenesis of specific diseases or casual biomarkers including susceptible genes. In this study, we evaluated the proposed relationship of novel susceptible genes (TREML2, HTR1E, and GLO1) with osteoporosis, which genes were obtained using multi-omics integration analyses. To this end, SNPs of the susceptible genes in the Korean female cohort were analyzed. As a result, one SNP of HTR1E and five SNPs of TREML2 were identified to associate with osteoporosis. The highest significant SNP was rs6938076* of TREML2 (OR=0.63, CI: 0.45~ 0.89, recessive P=0.009). Consequently, the susceptible genes identified through the multi-omics analyses were confirmed to have association with osteoporosis. Therefore, multi-omics analysis might be a powerful tool to find new genes associated with a disease. We further identified that TREML2 has more associated with osteoporosis in females than did HTR1E.

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“…Both N G -nitro-L-arginine methyl ester (L-NAME) treated endothelial cellular and Sprague Dawley rat models have suggested that under eNOS dysfunction, mitochondria tend to shift away from fusion and that excessive fission may be an underlying cause of endothelial cell dysfunction in postischemic hearts (Giedt et al, 2012;Miller et al, 2013). The finding that genetic variation in the PARK2 gene, which encodes the important mitophagy regulator parkin, is significantly associated with HTN in both Nigerian and Korean populations further supports the relationship of mitochondrial quality control and susceptibility to HTN (Tayo Bamidele et al, 2009;Jin et al, 2011). The protective effect of mitophagy on the development of HTN has been shown, as overexpression of cathepsin S and enhanced ATG5-mediated mitophagy contributes to the decrease of both ROS production and NF-κB-related inflammatory responses using an Ang IIinduced HTN mice model (Pan et al, 2012;Zhao et al, 2014).…”

Section: Hypertensionmentioning

confidence: 92%

Quality Matters? The Involvement of Mitochondrial Quality Control in Cardiovascular Disease

Lin

Chen

Lin

et al. 2021

Front. Cell Dev. Biol.

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Cardiovascular diseases are one of the leading causes of death and global health problems worldwide. Multiple factors are known to affect the cardiovascular system from lifestyles, genes, underlying comorbidities, and age. Requiring high workload, metabolism of the heart is largely dependent on continuous power supply via mitochondria through effective oxidative respiration. Mitochondria not only serve as cellular power plants, but are also involved in many critical cellular processes, including the generation of intracellular reactive oxygen species (ROS) and regulating cellular survival. To cope with environmental stress, mitochondrial function has been suggested to be essential during bioenergetics adaptation resulting in cardiac pathological remodeling. Thus, mitochondrial dysfunction has been advocated in various aspects of cardiovascular pathology including the response to ischemia/reperfusion (I/R) injury, hypertension (HTN), and cardiovascular complications related to type 2 diabetes mellitus (DM). Therefore, mitochondrial homeostasis through mitochondrial dynamics and quality control is pivotal in the maintenance of cardiac health. Impairment of the segregation of damaged components and degradation of unhealthy mitochondria through autophagic mechanisms may play a crucial role in the pathogenesis of various cardiac disorders. This article provides in-depth understanding of the current literature regarding mitochondrial remodeling and dynamics in cardiovascular diseases.

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Replicated association between genetic variation in the PARK2 gene and blood pressure

Cited by 10 publications

References 37 publications

Identification of a genetic variant at 2q12.1 associated with blood pressure in East-Asians by genome-wide scan including gene-environment interactions

Identification of a genetic variant at 2q12.1 associated with blood pressure in East-Asians by genome-wide scan including gene-environment interactions

Association of the TREML2 and HTR1E Genetic Polymorphisms with Osteoporosis

Quality Matters? The Involvement of Mitochondrial Quality Control in Cardiovascular Disease

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