scholarly journals The 3’-UTR Polymorphisms in the Thymidylate Synthase (TS) Gene Associated with The Risk of Ischemic Stroke and Silent Brain Infarction

2021 ◽  
Vol 11 (3) ◽  
pp. 200
Author(s):  
Jung Oh Kim ◽  
Han Sung Park ◽  
Eun Ju Ko ◽  
Jung Hoon Sung ◽  
Jinkwon Kim ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Thymidylate Synthase ◽  
Gene Polymorphisms ◽  
Cancer Metastasis ◽  
Fragment Length Polymorphism ◽  
Brain Infarction ◽  
Polymorphism Analysis ◽  
Silent Brain Infarction ◽  
Polymerase Chain ◽  
Lower Correlation

Thymidylate synthase (TS) is a key gene involved in the repair of DNA damage and DNA synthesis that plays an important role in vascular development and recovery. In particular, TS gene polymorphisms play a major role in the progression of vascular disease and cancer metastasis. Therefore, the aim of this study was to investigate the association of three TS polymorphisms (1100T>C [rs699517], 1170A>G [rs2790], and 1494ins/del [rs151264360]) with ischemic stroke and silent brain infarction (SBI) in Koreans. A total of 1299 participants (507 stroke patients, 383 SBI patients, and 409 controls) were enrolled in the study. Genotyping of the three TS polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism analysis. To examine the association between TS gene polymorphisms and the diseases, we performed statistical analyses, including multivariable logistic regression and Fisher’s exact tests. We found that TS 1100T>C and 1170A>G genotypes were strongly associated with ischemic stroke and SBI susceptibility. More specifically, the TS 1100T > C polymorphism was associated with the likelihood of ischemic stroke (TT vs. CC: AOR = 2.151, 95% CI = 1.275–3.628, P = 0.004) and SBI (TT vs. TC+CC: AOR = 1.443, 95 % CI = 1.009–2.063, P = 0.045). In contrast, the TS 1170A > G polymorphism exhibited lower correlation with the risk of stroke (AA vs. GG: AOR = 0.284, 95% CI = 0.151–0.537, P < 0.0001) and SBI (AA vs. GG: AOR = 0.070, 95% CI = 0.016–0.298, P = 0.0002). Furthermore, we confirmed that the TS 1100T > C polymorphism was synergistic with low folic acid levels (AOR = 6.749, P < 0.0001). Altogether, these results suggest that TS 1100T > C and 1170A > G polymorphisms are associated with the risk of ischemic stroke and SBI, and our study provides the first evidence that 3′-UTR variants in TS are potential biomarkers in ischemic stroke and SBI.:

scholarly journals The Frequencies of Allele Distribution of CYP2C9 and CYP2C19 Gene Polymorphisms in Healthy Papuan Population, Indonesia

2021 ◽  
Vol 20 (3) ◽  
Author(s):  
Syahrul Tuba ◽  
Zullies Ikawati ◽  
Mustofa
Keyword(s):  
Ethnic Group ◽  
Gene Polymorphisms ◽  
Fragment Length Polymorphism ◽  
Polymorphism Analysis ◽  
Allele Distribution ◽  
Pcr Rflp ◽  
Cyp2c19 Gene ◽  
Hardy Weinberg Equilibrium ◽  
Polymorphism Rate ◽  
Polymerase Chain

This study's objective was to determine the distribution of allele frequencies of CYP2C9 and CYP2C19 gene polymorphisms among the Papuan population, known as the second-largest ethnic group in Indonesia. According to recent research, there is a decrease in CYP2C9 and CYP2C19 produced by humans globally, including in Indonesia. These gene polymorphisms aid in the transmission of various endogenous and exogenous drugs in the human body. Material and Methods: A sum of 99 subjects, comprising 73 male and 26 female subjects aged 20-30 years, were used for this research. PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) analysis using AvaII, NsiI, and SfaNI enzymes tested for the genotypes CYP2C9 and CYP2C19 administered. The distribution of genotypes was calculated in the population (P<0.05) using the Hardy-Weinberg equilibrium. The Faculty of Medicine Gadjah Mada University's Medical and Health Research Ethics Committee (MHREC) accepted this research with written consent. The results revealed that in Papua subjects, CYP2C9*2 (rs1799853) and CYP2C19*17 (rs12248560) alleles were absent while in 17 percent of the population CYP2C9*3 (rs1057910) allele frequency was. In conclusion, CYP2C9*3 has the highest polymorphism rate in Indonesia, with the absence of CYP2C9*2 and CYP2C19*17. Therefore, genetic drift can occur within this ethnic group. Keywords: Genotyping; Papuan ethnic; Pharmacogenetics; Polymorphisms

scholarly journals Phytoplasma occurrence in apple trees in the Czech Republic

2011 ◽  
Vol 39 (No. 1) ◽  
pp. 7-12 ◽  
Author(s):  
R. Fialová ◽  
M. Navrátil ◽  
P. Válová
Keyword(s):  
Fragment Length Polymorphism ◽  
Rrna Gene ◽  
Polymorphism Analysis ◽  
Apple Proliferation ◽  
Chain Reaction ◽  
Apple Trees ◽  
The Czech Republic ◽  
High Incidence ◽  
Phytoplasma Infection ◽  
Polymerase Chain

The presence of phytoplasmas in apple trees with proliferation symptoms, rubbery wood symptoms and no symp&shy;toms was determined by using polymerase chain reaction assays with primers amplifying phytoplasma 16S rRNA gene. Phytoplasmas were detected in all trees with proliferation symptoms. Positive tests for phytoplasma in the group of trees with rubbery wood symptoms and of those without symptoms revealed a relatively high incidence of latent phytoplasma infection. Using restriction fragment length polymorphism analysis, phytoplasma of the same identity &ndash; apple proliferation phytoplasma (subgroup 16SrX-A) &ndash; was recorded in all positively tested trees. &nbsp;

scholarly journals Association of the miR-146a , miR-149 , miR-196a2 , and miR-499 Polymorphisms With Ischemic Stroke and Silent Brain Infarction Risk

2013 ◽  
Vol 33 (2) ◽  
pp. 420-430 ◽  
Author(s):  
Young Joo Jeon ◽  
Ok Joon Kim ◽  
Su Yeoun Kim ◽  
Seung Hun Oh ◽  
Doyeun Oh ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Brain Infarction ◽  
Silent Brain Infarction
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