Genetic variants that affect platelet function

Kunicki, Thomas J.; Williams, Shirley; Nugent, Diane J.

doi:10.1097/moh.0b013e3283567526

Cited by 49 publications

(34 citation statements)

References 80 publications

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“…Finally, there is no information about genetic contributions to platelet activation. Gene polymorphisms exert a cumulative effect on platelet activation and increase the risk of negative outcomes in thrombotic disorders [57]. …”

Section: Discussionmentioning

confidence: 99%

A Decreased Mean Platelet Volume Is Associated with Stable and Exacerbated Asthma

Sun¹,

Zhang

Cao³

et al. 2014

Respiration

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Background: Systemic inflammation is related to disease progression in asthma. Activated platelets play a critical role in atherogenesis, inflammation, and atherothrombosis. The mean platelet volume (MPV) is an early marker of platelet activation. Objectives: The aim of this study is to clarify the relevance of MPV levels in patients with stable and exacerbated asthma. Methods: We investigated the peripheral blood cell count parameters, C-reactive protein (CRP), lung function parameters, and arterial blood gas in patients with asthma and control subjects. Eighty-five stable asthma patients and 85 asthmatics with exacerbations were investigated. Eighty-five controls matched for age, gender, body mass index (BMI), and smoking status were recruited. Results: Patients with exacerbated asthma had lower MPV and higher CRP levels and white blood cell (WBC) counts compared to patients with stable asthma and control subjects. Furthermore, the MPV was reduced in patients with stable asthma compared to control subjects. Negative correlations between MPV and CRP were present in stable and exacerbated asthma. Although there was no relationship between MPV and WBC count in stable asthma, there was an inverse relationship between MPV and WBC count in exacerbated asthma. Conclusions: These findings show that patients with stable asthma had a lower MPV compared to controls and the MPV levels in asthmatic patients with exacerbations were lower compared to those in patients with stable asthma. Further investigations regarding the role of MPV in asthma may be beneficial in the search for therapeutic targets.

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Section: Discussionmentioning

confidence: 99%

A Decreased Mean Platelet Volume Is Associated with Stable and Exacerbated Asthma

Sun¹,

Zhang

Cao³

et al. 2014

Respiration

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“…It is part of the tetramer which functional tasks are interaction with von Willebrand factor, platelet aggregation, and cell adhesion [39,41,75]. Pathological allele T of SNP T145M 434 C4T in alpha subunit of platelet glycoprotein 1b gene GP1BA is one of the causes of platelet type of von Willebrand disease specifically an increased tendency to bleed.…”

Section: Snps In the Renin-angiotensin Systemmentioning

confidence: 99%

Toward optimal set of single nucleotide polymorphism investigation before IVF

Ivanov

Dedul

Fedotov

et al. 2016

Gynecological Endocrinology

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Background: At present, the patient preparation for IVF needs to undergo a series of planned tests, including the genotyping of single nucleotide polymorphism (SNP) alleles of some genes. In former USSR countries, such investigation was not included in overwhelming majority of health insurance programs and paid by patient. In common, there are prerequisites to the study of more than 50 polymorphisms. An important faced task is to determine the optimal panel for SNP genotyping in terms of price/number of SNP. Materials and methods: During 2009-2015 in the University Hospital of St. Petersburg State University, blood samples were analyzed from 550 women with different reproductive system disorders preparing for IVF and 46 healthy women in control group. In total, 28 SNP were analyzed in the genes of thrombophilia factors, folic acid cycle, detoxification system, and the renin-angiotensin system. The method used was real-time PCR. Results: A significant increase in the frequency of pathological alleles of some polymorphisms in patients with habitual failure of IVF was shown, compared with the control group. As a result, two options defined panels for optimal typing SNP before IVF were composed. Standard panel includes 8 SNP, 5 in thromborhilic factors, and 3 in folic acid cycle genes. They are 20210 G4A of FII gene, R506Q G4A of FV gene (mutation Leiden), -675 5G44G of PAI-I gene, L33P T4C of ITGB3 gene, -455 G4A of FGB gene, 667 C4T of MTHFR gene, 2756 A4G of MTR gene, and 66 A4G of MTRR gene. Extended panel of 15 SNP also includes 807 C4T of ITGA2 gene, T154M C4T of GP1BA gene, second polymorphism 1298 A4C in MTHFR gene, polymorphisms of the renin-angiotensin gene AGT M235T T4C and -1166 A4C of AGTR1 gene, polymorphisms I105V A4G and A114V C4T of detoxification system gene GSTP. Conclusion:The results of SNP genotyping can be adjusted for treatment tactics and IVF, and also medical support getting pregnant. The success rate of IVF is increased as the result, especially in the group with the usual failure of IVF.

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“…98 Genome-wide association studies (GWASs) have identified SNPs near .40 different genes associated with platelet size, count, or function. [101][102][103][104][105] Meta-analyses have extended this number to ;80 (for a convenient list, see Bunimov et al 102 ). In GWASs, a trait-associated SNP serves as a regional marker of allelic association without necessarily being the cause of the trait.…”

Section: Switchbacks: Antisense and Noncoding Rnamentioning

confidence: 99%

Natural selection driven by DNA binding proteins shapes genome-wide motif statistics

Qian

Kussell

2016

Preprint

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Ectopic DNA binding by transcription factors and other DNA binding proteins can be detrimental to cellular functions and ultimately to organismal fitness. The frequency of protein-DNA binding at non-functional sites depends on the global composition of a genome with respect to all possible short motifs, or k-mer words. To determine whether weak yet ubiquitous protein-DNA interactions could exert significant evolutionary pressures on genomes, we correlate in vitro measurements of binding strengths on all 8-mer words from a large collection of transcription factors, in several different species, against their relative genomic frequencies. Our analysis reveals a clear signal of purifying selection to reduce the large number of weak binding sites genome-wide. This evolutionary process, which we call global selection, has a detectable hallmark in that similar words experience similar evolutionary pressure, a consequence of the biophysics of protein-DNA binding. By analyzing a large collection of genomes, we show that global selection exists in all domains of life, and operates through tiny selective steps, maintaining genomic binding landscapes over long evolutionary timescales.

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Genetic variants that affect platelet function

Cited by 49 publications

References 80 publications

A Decreased Mean Platelet Volume Is Associated with Stable and Exacerbated Asthma

A Decreased Mean Platelet Volume Is Associated with Stable and Exacerbated Asthma

Toward optimal set of single nucleotide polymorphism investigation before IVF

Natural selection driven by DNA binding proteins shapes genome-wide motif statistics

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