scholarly journals P3538Influence of single nucleotide polymorphisms (SNPs) within genes encoding platelet glycoprotein receptors and blood-coagulation factors on embolic risk in patients with infective endocarditis (IE)

2018 ◽  
Vol 39 (suppl_1) ◽  
Author(s):  
M Sorokina ◽  
A A Andreev ◽  
N M Povalyaev ◽  
A V Balatskiy ◽  
A S Pisaryuk ◽  
...  
Keyword(s):  
Infective Endocarditis ◽  
Single Nucleotide Polymorphisms ◽  
Blood Coagulation ◽  
Coagulation Factors ◽  
Platelet Glycoprotein ◽  
Nucleotide Polymorphisms ◽  
Blood Coagulation Factors ◽  
Single Nucleotide ◽  
Genes Encoding ◽  
Embolic Risk

scholarly journals Coagulation Factors and the Risk of Ischemic Heart Disease

2018 ◽  
Vol 11 (1) ◽  
Author(s):  
Jie V. Zhao ◽  
C. Mary Schooling
Keyword(s):  
Heart Disease ◽  
Single Nucleotide Polymorphisms ◽  
Confidence Interval ◽  
Ischemic Heart Disease ◽  
Plasminogen Activator ◽  
Odds Ratio ◽  
Coagulation Factors ◽  
Ischemic Heart ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

Background: Coagulation plays a role in ischemic heart disease (IHD). However, which coagulation factors are targets of intervention is unclear. We assessed how genetically predicted vWF (von Willebrand factor), ETP (endogenous thrombin potential), FVIII (factor VIII), d -dimer, tPA (tissue-type plasminogen activator), and PAI (plasminogen activator inhibitor)-1 affected IHD. We similarly estimated effects on lipids to determine whether any associations were independent of lipids. Methods and Results: Separate sample instrumental variable analysis with genetic instruments, that is, Mendelian randomization, was used to obtain unconfounded estimates of effects on IHD using extensively genotyped studies of coronary artery disease/myocardial infarction, CARDIoGRAMplusC4D Metabochip (64 374 cases, 130 681 controls) and CARDIoGRAMplusC4D 1000 Genomes (60 801 cases, 123 504 controls), and on lipids using the Global Lipids Genetics Consortium Results (n=196 475). Genetically predicted ETP was positively associated with IHD (odds ratio, 1.05 per log-transformed SD; 95% confidence interval, 1.03–1.07) based on 15 single-nucleotide polymorphisms, as were vWF (odds ratio, 1.05 per SD; 95% confidence interval, 1.02–1.08) and FVIII (odds ratio, 1.06 per SD; 95% confidence interval, 1.03–1.09) based on 16 and 6 single-nucleotide polymorphisms, respectively, but the latter associations were null after considering pleiotropy. vWF and FVIII were associated with higher LDL (low-density lipoprotein) cholesterol, but not after considering pleiotropy. Genetically predicted d -dimer, tPA, and PAI-1 were not clearly associated with IHD or lipids based on 3, 3, and 5 single-nucleotide polymorphisms, respectively. Conclusions: ETP may affect IHD. Assessing the role of its drivers in more precisely phenotyped studies of IHD could be worthwhile.

scholarly journals Single Nucleotide Polymorphisms Associated with Methotrexate-induced Nausea in Juvenile Idiopathic Arthritis

2021 ◽  
Author(s):  
Nini Kyvsgaard ◽  
Torben Stamm Mikkelsen ◽  
Thomas D. Als ◽  
Anne Estmann Christensen ◽  
Thomas J. Corydon ◽  
...  
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Single Nucleotide Polymorphisms ◽  
Snp Analysis ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Minor Alleles ◽  
Genes Encoding ◽  
Metabolizing Enzyme ◽  
The Impact

Abstract BackgroundContext: Methotrexate (MTX) is a cornerstone in the treatment of juvenile idiopathic arthritis (JIA). MTX treatment is commonly associated with nausea. Large inter-individual variation exists in the level of MTX-induced nausea, possibly due to genetic factors. Purpose: To investigate whether MTX-induced nausea was associated with single nucleotide polymorphisms (SNPs) in genes encoding MTX-transporter proteins, a MTX metabolizing enzyme and a nausea receptor.FindingsMethods: Children aged ≥9 years treated with MTX for JIA were eligible. MTX-induced nausea was registered by the children’s completion of a nausea diary (min. 7 days) and the parents’ completion of the MTX intolerance severity score (MISS). The selected SNPs were: SLCO1B1 (rs4149056; rs4149081), SLCO1B3 (rs2117032), SLC19A1 (rs1051266), ABCC2 (rs2273697; rs3740066; rs717620), ABCB1 (rs2032582; rs1045642), MTHFR (rs1801131, rs1801133), HTR3A (rs1062613; rs1985242; rs1176713) and HTR3B (rs1176744). Results: Enrolled were 121 JIA patients (82 girls: 39 boys) with a median age of 13.3 years (IQR: 11.3-15.1). The median MTX dose was 9.7 mg/m2/week (IQR: 9.0-10.9). The median MTX treatment duration prior to enrolment was 340 days (IQR: 142-766). The SNP analysis was available for 119 patients. MTX intolerance was associated with the genotype distribution of rs1801133 (MTHFR) (p= 0.02). There was no additive effect of the minor alleles for any of the selected SNPs, nor any significant haplotype associations. Conclusion Summary: MTX-induced nausea may be influenced by genetic polymorphisms in a MTX metabolizing enzyme (rs1801133; MTHFR). Implications: Further analyses involving inclusion of larger cohorts are needed to understand the impact of SNPs on MTX-induced nausea in JIA.

Functional Single Nucleotide Polymorphisms (SNPs) in the Genes Encoding the Human Deoxyribonuclease (DNase) Family Potentially Relevant to Autoimmunity

2016 ◽  
Vol 45 (5) ◽  
pp. 406-419 ◽  
Author(s):  
Junko Fujihara ◽  
Misuzu Ueki ◽  
Kaori Kimura-Kataoka ◽  
Reiko Iida ◽  
Haruo Takeshita ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genes Encoding

scholarly journals Single nucleotide polymorphisms associated with methotrexate-induced nausea in juvenile idiopathic arthritis

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Nini Kyvsgaard ◽  
Torben Stamm Mikkelsen ◽  
Thomas D. Als ◽  
Anne Estmann Christensen ◽  
Thomas J. Corydon ◽  
...  
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Single Nucleotide Polymorphisms ◽  
List Type ◽  
Snp Analysis ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genes Encoding ◽  
Metabolizing Enzyme ◽  
The Impact

Abstract Background Context: Methotrexate (MTX) is a cornerstone in the treatment of juvenile idiopathic arthritis (JIA). MTX treatment is commonly associated with nausea. Large inter-individual variation exists in the level of MTX-induced nausea, possibly due to genetic factors. Purpose: To investigate whether MTX-induced nausea was associated with single nucleotide polymorphisms (SNPs) in genes encoding MTX-transporter proteins, a MTX metabolizing enzyme and a nausea receptor. Findings Methods: Children aged ≥9 years treated with MTX for JIA were eligible. MTX-induced nausea was registered by the children’s completion of a nausea diary (min. 7 days) and the parents’ completion of the MTX intolerance severity score (MISS). The selected SNPs were: SLCO1B1 (rs4149056; rs4149081), SLCO1B3 (rs2117032), SLC19A1 (rs1051266), ABCC2 (rs2273697; rs3740066; rs717620), ABCB1 (rs2032582; rs1045642), MTHFR (rs1801131, rs1801133), HTR3A (rs1062613; rs1985242; rs1176713) and HTR3B (rs1176744). Result: Enrolled were 121 JIA patients (82 girls: 39 boys) with a median age of 13.3 years (IQR: 11.3–15.1). The median MTX dose was 9.7 mg/m2/week (IQR: 9.0–10.9). The median MTX treatment duration prior to enrolment was 340 days (IQR: 142–766). The SNP analysis was available for 119 patients. MTX intolerance was associated with the genotype distribution of rs1801133 (MTHFR) (p = 0.02). There was no additive effect of the minor alleles for any of the selected SNPs, nor any significant haplotype associations. Conclusion Summary: MTX-induced nausea may be influenced by genetic polymorphisms in a MTX metabolizing enzyme (rs1801133; MTHFR). Implications: Further analyses involving inclusion of larger cohorts are needed to understand the impact of SNPs on MTX-induced nausea in JIA.

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