Association of six CpG-SNPs in the inflammation-related genes with coronary heart disease

Chen, Xiaomin; Chen, Xiaoying; Xu, Yan; Yang, William; Wu, Nan; Ye, Huadan; Hong, Qingxiao; Xin, Yanfei; Yang, Mary Qu; Deng, Youping; Duan, Shiwei

doi:10.1186/s40246-016-0067-1

Cited by 26 publications

(21 citation statements)

References 47 publications

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“…The expression at the fork or bend is significantly lower than the vertical. SNPs are DNA sequence polymorphisms caused by mutations at the genomic nucleotide level, including single base transformations, transversions, and single base deletions and insertions . The susceptibility may be related to race, genetic, environmental, or other factors such as age, sex, diet, and smoking.…”

Section: Discussionmentioning

confidence: 99%

ABCA1 variants rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C) are associated with susceptibility to coronary heart disease

Wang

Chen

et al. 2019

Clinical Laboratory Analysis

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BackgroundTo investigate the association between three single nucleotide polymorphisms (SNPs) of ABCA1 gene and susceptibility to coronary heart disease (CHD) in Chinese Han population.MethodsA total of 484 CHD patients and 488 controls were included in the study. Three SNPs rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C) in ABCA1 gene were genotyped by SNaPshot.ResultsSingle nucleotide polymorphism rs1800977 was associated with susceptibility to CHD (AA vs GG, P = 0.013; A vs G, P = 0.029; recessive model, P = 0.020). Rs4149313 (AA vs GG, P = 0.010; recessive model, P = 0.011) and rs9282541 (T vs C, P = 0.029; dominant model, P = 0.039) were also risk factor for CHD.ConclusionThis study suggests that three SNPs rs2230806, rs4149313, and rs9282541 in ABCA1 gene are significantly associated with susceptibility to CHD; further mechanism should be performed to be applied to drug research and development.

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Section: Discussionmentioning

confidence: 99%

ABCA1 variants rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C) are associated with susceptibility to coronary heart disease

Wang

Chen

et al. 2019

Clinical Laboratory Analysis

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“…17 Of the 10 cases driving this shared region (Table S4), the seven with available diagnostic data had depression (5/7), anxiety (3/7), and alcohol dependence (3/7). Two cases had multiple psychiatric diagnoses, and four cases had previous documented attempts.…”

Section: Discussionmentioning

confidence: 99%

Genomewide significant regions in 43 Utah high-risk families implicate multiple genes involved in risk for completed suicide

Coon

Darlington

DiBlasi

et al. 2017

Preprint

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Suicide is the 10th leading cause of death in the US. While environment has undeniable impact, evidence suggests that genetic factors play a major role in completed suicide. We have >4,500 DNA samples from completed suicides through a collaboration with the Utah Medical Examiner. We have linked the records from these cases to the Utah Population Database which includes multi-generation genealogies, demographic data, and medical information on over 8 million individuals. This linking has resulted in extended families (7-9 generations) with significant familial risk of completed suicide. Familial aggregation across distant relatives minimizes effects of shared environment, provides more genetically homogeneous risk groups, and magnifies genetic risks through familial repetition. We analyzed DNA from 215 suicide cases in 43 of our largest high-risk families and identified 16 regions with genome-wide significance in 10 families. Of the 163 genes in these regions, 25% were associated with psychiatric risk. We also found 13 regions with genome-wide suggestive evidence where the region overlaps in >1 family (p-values from 4.63E-09 to <1E-16). Of the 101 genes in these overlapping regions, seven have been previously associated with suicide risk (RGS18, BRINP3, RHEB, CDK5, CTNNA3, STAT1, and HTR2A); only one gene with specific suicide risk would have been expected by chance. Our most significant region on chromosome 5q23.3 was shared by 21 cases across three families. This region contains several genes associated with both psychiatric conditions and inflammation: HINT1, RAPGEF6, ACSL6, IL3, SLC22A4, CSF2, and IRF1. Our study provides 249 genes in the significant regions in our study represent important new candidate genes for suicide. The genome-wide significant family-specific regions may reveal more rare risk variants, while risk variants in regions that overlap across families may be more common.. CC-BY-ND 4.0 International license It is made available under a (which was not peer-reviewed) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity.The copyright holder for this preprint . http://dx.doi.org/10.1101/195644 doi: bioRxiv preprint first posted online Sep. 28, 2017; 3 Author SummarySuicide is the 10th leading cause of death in the US. While environment has undeniable impact, evidence suggests that genetic factors play a major role in completed suicide. We have used DNA from suicide cases related to each other in very large extended high-risk families (7-9 generations) to discover regions of the genome likely to contain genetic changes leading to increased suicide risk. Studying these distantly related cases minimizes effects of shared environment and allows us to detect genetic risks more easily through their familial repetition. The genomic regions discovered in this study of our 43 largest high-risk families contained seven genes with corroborating evidence of association with suicide from previous studies, in addition to many genes with known psychiatric assoc...

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“…A 5′-UTR variant (rs9395208) might not be associated with Lp-PLA2 activity and mass in the Chinese population, 92 but in the same population, another study found the minor allele of rs9395208 to be a protective factor for CHD (OR = 0.78, 95% CI: 0.62-0.98, P = .03). 115 However, Grallert et al 90 established that this variant was significantly associated with Lp-PLA2 mass but not with activity or prevalence of CHD or CAD in participants of European ancestry.…”

Section: Other Snpsmentioning

confidence: 99%

Lipoprotein‐associated phospholipase A2: The story continues

Huang

Wang

Shen

2019

Medicinal Research Reviews

131

140

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Inflammation is thought to play an important role in the pathogenesis of vascular diseases. Lipoprotein‐associated phospholipase A2 (Lp‐PLA2) mediates vascular inflammation through the regulation of lipid metabolism in blood, thus, it has been extensively investigated to identify its role in vascular inflammation‐related diseases, mainly atherosclerosis. Although darapladib, the most advanced Lp‐PLA2 inhibitor, failed to meet the primary endpoints of two large phase III trials in atherosclerosis patients cotreated with standard medical care, the research on Lp‐PLA2 has not been terminated. Novel pathogenic, epidemiologic, genetic, and crystallographic studies regarding Lp‐PLA2 have been reported recently, while novel inhibitors were identified through a fragment‐based lead discovery strategy. More strikingly, recent clinical and preclinical studies revealed that Lp‐PLA2 inhibition showed promising therapeutic effects in diabetic macular edema and Alzheimer's disease. In this review, we not only summarized the knowledge of Lp‐PLA2 established in the past decades but also emphasized new findings in recent years. We hope this review could be valuable for helping researchers acquire a much deeper insight into the nature of Lp‐PLA2, identify more potent and selective Lp‐PLA2 inhibitors, and discover the potential indications of Lp‐PLA2 inhibitors.

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Association of six CpG-SNPs in the inflammation-related genes with coronary heart disease

Cited by 26 publications

References 47 publications

ABCA1 variants rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C) are associated with susceptibility to coronary heart disease

ABCA1 variants rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C) are associated with susceptibility to coronary heart disease

Genomewide significant regions in 43 Utah high-risk families implicate multiple genes involved in risk for completed suicide

Lipoprotein‐associated phospholipase A2: The story continues

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