Genetic determinants of cardiovascular disease in patients with obstructive sleep apnea (OSA)

Bielicki, Piotr; Barnaś, Małgorzata; Brzóska, Kamil; Jończak, Luiza; Pierpoint, Robert; Kumor, Marta; Stępkowski, Tomasz M.; Chazan, Ryszarda; Kruszewski, Marcin; Śliwiński, Paweł

doi:10.1183/13993003.congress-2015.oa1751

Cited by 6 publications

(5 citation statements)

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“…Accordingly, the occurrence of complications of obesity caused by the function of miR-335 is dependent on his own mechanisms of transcription regulated by the presence of the adipokines (Zhu et al, 2014). Bielicki, et al (2014) investigated the relationship between polymorphisms of selected genes possibly associated with coronary heart disease with a prevalence of obstructive sleep apnea (OSA). Their study involved 600 people with OSA, including 127 people with coronary heart disease and the other 473 as the control group.…”

Section: Adiponectin -The Adipokine Of Special Rolementioning

confidence: 99%

The genetic basis of obesity complications

Skrypnik

Suliburska

Skrypnik

et al. 2017

Acta Sci Pol Technol Aliment

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Intensive research is currently being performed into the genetic background of excess body mass complications such as diabetes, cardiovascular disorders, especially atherosclerosis and coronary heart disease. Chronic inflammation is an important process in the pathogenesis of obesity, wherein there is an aberrant expression of genes encoding adipokines. Visceral tissue is characterized by a higher expression and secretion of interleukin-8, interleukin-1ß and plasminogen activator inhibitor 1 in the subcutaneous tissue secretion of leptin prevails. An important complication of obesity is obstructive sleep apnea, often observed in PraderWilli syndrome. The genetic background of sleep apnea may be a polymorphism of the SREBF1 gene. The consequence of excess body mass is metabolic syndrome, which may be related to the occurrence of the rs926198 variant of gene encoding caveolin-1. The genes of transcription factor TCF7L2 and PPAR-γ2 take part in the pathogenesis of diabetes development. It has been demonstrated that oncogenes FOS, FOSB, and JUN may be co-responsible not only for obesity but also for osteoporosis and colorectal cancer. It has been shown that weight loss causes a modification in the expression of about 100 genes involvedt in the production of substances such as cytokines and other responsible for chronic inflammation in obesity. In future studies on the complications of obesity, such scientific disciplines as proteomics, peptidomics, metabolomics and transcriptomics should be used. The aim of this study is to present the current state of knowledge about the genetic basis of obesity complications.

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Section: Adiponectin -The Adipokine Of Special Rolementioning

confidence: 99%

The genetic basis of obesity complications

Skrypnik

Suliburska

Skrypnik

et al. 2017

Acta Sci Pol Technol Aliment

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“…Similarly, QTLs for genes linked to coronary artery disease risk (e.g. LPL [58], SREBF1 [59], GIT1 [60,61], SKIV2L [61], MAP3K11/MLK3 [62]) were associated with colocalization sites linking coronary artery disease with mean platelet volume, lymphocyte, and/or reticulocyte counts (Additional file 1: Tables S15-S17). Other identified genes associated with colocalization loci represent novel findings that could enhance understanding of the pathophysiology and/or treatment of these diseases, although functional validation remains necessary.…”

Section: Illuminating Hematopoietic Contributions and Associations Wimentioning

confidence: 97%

Genetic colocalization atlas points to common regulatory sites and genes for hematopoietic traits and hematopoietic contributions to disease phenotypes

Thom

Voight

2020

BMC Med Genomics

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Background: Genetic associations link hematopoietic traits and disease end-points, but most causal variants and genes underlying these relationships are unknown. Here, we used genetic colocalization to nominate loci and genes related to shared genetic signal for hematopoietic, cardiovascular, autoimmune, neuropsychiatric, and cancer phenotypes. Methods: Our aim was to identify colocalization sites for human traits among established genome-wide significant loci. Using genome-wide association study (GWAS) summary statistics, we determined loci where multiple traits colocalized at a false discovery rate < 5%. We then identified quantitative trait loci among colocalization sites to highlight related genes. In addition, we used Mendelian randomization analysis to further investigate certain trait relationships genome-wide. Results: Our findings recapitulated developmental hematopoietic lineage relationships, identified loci that linked traits with causal genetic relationships, and revealed novel trait associations. Out of 2706 loci with genome-wide significant signal for at least 1 blood trait, we identified 1779 unique sites (66%) with shared genetic signal for 2+ hematologic traits. We could assign some sites to specific developmental cell types during hematopoiesis based on affected traits, including those likely to impact hematopoietic progenitor cells and/or megakaryocyte-erythroid progenitor cells. Through an expanded analysis of 70 human traits, we defined 2+ colocalizing traits at 2123 loci from an analysis of 9852 sites (22%) containing genome-wide significant signal for at least 1 GWAS trait. In addition to variants and genes underlying shared genetic signal between blood traits and disease phenotypes that had been previously related through Mendelian randomization studies, we defined loci and related genes underlying shared signal between eosinophil percentage and eczema. We also identified colocalizing signals in a number of clinically relevant coding mutations, including sites linking PTPN22 with Crohn's disease, NIPA with coronary artery disease and platelet trait variation, and the hemochromatosis gene HFE with altered lipid levels. Finally, we anticipate potential off-target effects on blood traits related novel therapeutic targets, including TRAIL.

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Section: Adiponectin -The Adipokine Of Special Rolementioning

confidence: 99%