scholarly journals Analysis of the Association Between MicroRNA Biogenesis Gene Polymorphisms and Venous Thromboembolism in Koreans

2019 ◽  
Vol 20 (15) ◽  
pp. 3771 ◽  
Author(s):  
Eun Ju Ko ◽  
Eo Jin Kim ◽  
Jung Oh Kim ◽  
Jung Hoon Sung ◽  
Han Sung Park ◽  
...  

Venous thromboembolism (VTE) involves the formation of a blood clot, typically in the deep veins of the leg or arm (deep vein thrombosis), which then travels via the circulatory system and ultimately lodges in the lungs, resulting in pulmonary embolism. A number of microRNAs (miRNAs) are well-known regulators of thrombosis and thrombolysis, and mutations in miRNA biogenesis genes, such as DICER1, DROSHA have been implicated in miRNA synthesis and function. We investigated the genetic association between polymorphisms in four miRNA biogenesis genes, DICER1 rs3742330A > G, DROSHA rs10719T > C, RAN rs14035C > T and XPO5 rs11077A > C, and VTE in 503 Koreans: 300 controls and 203 patients. Genotyping was assessed with polymerase chain reaction-restriction fragment length polymorphism assays. We detected associations between polymorphisms in RAN and XPO5 and VTE prevalence (RAN rs14035CC + CT versus TT: p = 0.018; XPO5 rs11077AA + AC versus CC: p < 0.001). Analysis of allele combinations of all four polymorphisms (DICER1, DROSHA, RAN, XPO5) revealed that A-T-T-A was associated with decreased VTE prevalence (p = 0.0002), and A-T-C-C was associated with increased VTE prevalence (p = 0.027). Moreover, in subjects with provoked VTE, the DROSHA rs10719T > C, polymorphism was associated with increased disease prevalence (TT versus TC + CC: p < 0.039). Our study demonstrates that RAN and XPO5 polymorphisms are associated with risk for VTE in Korean subjects.

2016 ◽  
Vol 22 (4) ◽  
pp. 201-209 ◽  
Author(s):  
Tzu-Yun Wang ◽  
Sheng-Yu Lee ◽  
Yi-Lun Chung ◽  
Shiou-Lan Chen ◽  
Chia-Ling Li ◽  
...  

Background: Different drug dependencies may have unique genetic vulnerabilities. Changes in serotonin availability and function have been linked to addiction. We investigated whether 2 serotonergic polymorphisms, TPH1 A218C (rs1800532) and 5-HTT-linked promoter region (5-HTTLPR) (rs25531), are differently associated with alcohol or opiate dependence. Methods: Alcohol-dependent patients (n = 292), opiate-dependent patients (n = 309), and healthy controls (n = 301) were recruited from the Han Chinese population in Taiwan. Genotypes of TPH1 A218C and 5-HTTLPR polymorphisms were analyzed using a polymerase chain reaction with restriction fragment length polymorphism. Results: The genotype frequencies of the TPH1 A218C polymorphisms were not significantly different in the 3 groups. The genotype frequencies of the 5-HTTLPR S+ (S/S, S/LG, LG/LG) polymorphisms were significantly higher in opiate-dependent patients (χ2 = 8.77, p = 0.01), but not after controlling for the covariates of age, gender, and interaction effect in logistic regression analysis. Moreover, there was a significant interaction between the TPH1 A218C A/C and 5-HTTLPR S+ gene polymorphisms in opiate-dependent (OR 2.72, p = 0.01), but not in alcohol-dependent patients. Conclusions: Our data suggested that there may be a differential genetic vulnerability in serotonergic genes for alcohol and opiate addiction. However, replications of our findings are still needed.


Author(s):  
Mehrzad Pourjafar ◽  
Halimeh Zare ◽  
Maryam Kohan ◽  
Negar Azarpira

Objective: MicroRNAs are involved in the regulation of many physiological and pathological processes, such as atherosclerosis. Genetic polymorphisms in microRNA may affect its biogenesis and function. The aim of this study was to examine whether microRNA polymorphisms (mir-196a rs11614913 and mir-499 rs3746444) contribute to the risk of ischemic stroke. Methods: Genotyping was performed in 85 patients and 105 normal control, using polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) method.Results: In respect of rs11614913, significant association was observed between CC (P=0.003; OR= 0.41; CI=0.21 – 0.79), and TT (P=0.025; OR=2.22; CI=1.04 –4.8) genotypes. The inheritance of T allele increased the risk of ischemic stroke. There was a significant association between the GA genotype frequency of rs3746444 (P=0.01; OR= 0.41; CI=0.23– 0.87). TDiscussion: The present study provided evidence that the mir-196a and mir-499 polymorphisms are associated with a significantly increased risk of ischemic stroke in Iranian population. The common genetic polymorphism in pre-microRNAs may be contributed to the pathogenesis of ischemic stroke and represented as novel markers for stroke susceptibility.     


Parasitology ◽  
2017 ◽  
Vol 145 (3) ◽  
pp. 416-423 ◽  
Author(s):  
XIAOLA GUO ◽  
YADONG ZHENG

SUMMARYMicroRNAs (miRNAs) are short noncoding RNAs, involved in the regulation of parasite diseases. However, a role of miRNAs inEchinococcus multilocularisinfection remains largely unknown. In this study, we first found the expression levels of key genes involved in miRNA biogenesis and function, includingAgo2,Xpo5,Tarbp2andDgcR8, were obviously altered in the macrophage RAW264·7 cells exposed toE. multilocularismetacestodes. Compared with the control, 18 and 32 known miRNAs were found to be differentially expressed (P< 0·05 and fold change >2) in the macrophages exposed toE. multilocularismetacestodes for 6 and 12 h, respectively. Among these, several are known to be involved in regulating cytokine activities and immune responses. Quantitative real-time polymerase chain reaction results showed that the expression of nine selected miRNAs was consistent with the sequencing data at each treatment time points. Moreover, there were statistically significant correlations between the expression levels of miRNAs and their corresponding targeted genes. Our data give us some clues to pinpoint a role of miRNAs in the course of infection and immunity ofE. multilocularis.


2016 ◽  
Vol 18 (4) ◽  
pp. 386-393
Author(s):  
Joanna Pierzak-Sominka ◽  
Karolina Skonieczna-Żydecka ◽  
Jacek Rudnicki ◽  
Beata Karakiewicz

The ASPM and MCPH1 genes are involved in early neurogenesis and are thus potential candidates for affecting the formation of the anatomical and functional characteristics of the brain. However, the results of studies to date have been conflicting, an issue for which the factor of ethnicity may be responsible. We aimed to examine whether the rs3762271 and rs930557 polymorphisms of these two genes can influence brain anatomy and function. We enrolled 97 Caucasian neonates, with males predominating (53.6%). The anatomy of the brain was examined using ultrasound, while Doppler ultrasound was used to establish the blood flow indices in particular brain blood vessels. Genetic analysis was carried out using the polymerase chain reaction–restriction fragment length polymorphism method. The CC and AA homozygotes of rs3762271 were more common in males. The CC genotype of rs3762271 was significantly associated with birth weight ( pRE = .03) and body length ( pRE = .02). One mutant allele of rs3762271 was significantly associated with higher values of maximum ( Vmax, p = .04), minimum ( Vmin, p = .04), and average ( Vmean, p = .02) speed in the pericallosal artery in newborns of both genders. Similar relationships were found in females only ( Vmax p = .03, Vmean p = .02). The CC genotype of rs930557 was more frequently observed in male infants, but no impact on any anthropometric indices or anatomical and functional parameters of the brain was established. The ASPM gene may play a role in shaping the functional parameters of the brain in Caucasians.


Author(s):  
Wasedar Vishwanath S. ◽  
Pusuluri YVSM Krishna ◽  
Dani Harshikha

Objectives: To minimise the dose of Anti-platelet drugs and to treat the acute case of DVT through Ayurvedic oral medications. Methods: The present diagnosed case of DVT approached to OPD of KLE BMK Ayurveda Hospital with a complaints of swelling and pain in the calf muscle of the left lower limb associated with reddish brown discoloration in the foot and occasionally nasal and gum bleeding was treated consequently for 5 months with Punarnavadi Mandoor and Shiva Gutika orally. Results: There is significant decrease in the symptoms of DVT and also major changes seen in Venous Colour Doppler study of the left lower limb. Conclusion: Acute DVT is caused by a blood clot in a deep vein and can be life threatening as it may leads to serious complication like pulmonary embolism which can be cured through Ayurvedic oral medications.


2011 ◽  
Vol 39 (No. 1) ◽  
pp. 7-12 ◽  
Author(s):  
R. Fialová ◽  
M. Navrátil ◽  
P. Válová

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;


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