scholarly journals Polymorphisms but Not Mutations of theKCNQ1Gene Are Associated with Lone Atrial Fibrillation in the Chinese Han Population

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Hui-min Chu ◽  
Ming-jun Feng ◽  
Yi-gang Li ◽  
Yi-xin Zhang ◽  
Ji-fang Ma ◽  
...  

Background. Recent studies suggest that mutation of the slow delayed rectifier potassium channel (IKs) contributes to familial atrial fibrillation (FAF). In the current study, we identified common genetic variants ofKCNQ1and explored the potential association betweenKCNQ1polymorphism with lone AF (LAF).Methods. Clinical data and blood samples were collected from 190 Han Chinese patients with sporadic AF and matched healthy controls. Variants of theKCNQ1gene were identified using single-strand conformational polymorphism (SSCP) analysis. A case-control association study inKCNQ1identified six known single-nucleotide polymorphisms (SNPs) during SSCP screening of the 190 LAF patients and 190 healthy controls.Results. One of the SNPs inKCNQ1was strongly associated with LAF; significant allelic association was detected rs59233444 (P=0.013,OR=1.469, 95% confidence interval (CI): 1.083–1.993). A multiple regression analysis indicated that rs59233444 is an independent risk factor for LAF. Twelve new variants were identified inKCNQ1, including one in the 5′-UTR, two in the 3′-UTR, six in introns, two synonymous substitutions, and one missense substitution. Variants c.1009C>T, c.1860C>T, and c.+2285C>T were not present in the 190 controls, and the others were identified in controls at various frequencies.Conclusions. rs59233444, a common SNP but not mutation in the coding regions of theKCNQ1gene, is a risk factor for LAF in Chinese Han population.

2009 ◽  
Vol 126 (6) ◽  
pp. 843-849 ◽  
Author(s):  
Lisong Shi ◽  
Cong Li ◽  
Chuchu Wang ◽  
Yunlong Xia ◽  
Gang Wu ◽  
...  

2004 ◽  
Vol 92 (10) ◽  
pp. 867-873 ◽  
Author(s):  
Xiaoyang Zhou ◽  
Jianfeng Huang ◽  
Jianhong Chen ◽  
Shaoyong Su ◽  
Runsheng Chen ◽  
...  

SummaryMatrix metalloproteinase (MMP) 3 plays an important role in the pathogenesis of myocardial infarction (MI). Up to now, there has been conflicting data regarding the possible contribution of the MMP3 -1612 5A/6A promoter polymorphism to MI. In this study, we have investigated the possible association of three polymorphisms (-1612 5A/6A, -376C/G, Glu45Lys) in the MMP3 gene with MI in a Chinese Han population. The polymorphisms were analyzed in 509 patients with MI, and in 518 healthy controls. The frequency of the 5A allele was 14% in the healthy controls, which is less than in Western populations (40%-52%). Logistic regression analyses of individual polymorphisms indicated that individuals carrying the -1612 5A allele had an increased risk of MI (odds ratio [OR] 1.75, 95% confidence interval [CI] 1.28 to 2.40), as did those carrying the -376 G allele (OR 1.78, 95% CI 1.33 to 2.38). The three polymorphisms studied were found to be in strong linkage disequilibria. Haplotype analyses showed that the 5A-G-Lys haplotype (-1612 5A, -376G and 45Lys) was independently associated with susceptibility to MI. Taken together, the effect of the MMP3 polymorphisms studied may be attributable to the -1612 5A/6A polymorphism. We conclude that the MMP3 -1612 5A/6A polymorphism is associated with MI in our population, implying that individuals of the 5A allele carriers have an increased risk of suffering MI.


2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Zhen Fang ◽  
Yue Jiang ◽  
Yifeng Wang ◽  
Yuan Lin ◽  
Yaowu Liu ◽  
...  

PLoS ONE ◽  
2014 ◽  
Vol 9 (6) ◽  
pp. e99623 ◽  
Author(s):  
Gang Wu ◽  
Mian Cheng ◽  
He Huang ◽  
Bo Yang ◽  
Hong Jiang ◽  
...  

PLoS ONE ◽  
2016 ◽  
Vol 11 (8) ◽  
pp. e0160467 ◽  
Author(s):  
Rongfeng Zhang ◽  
Xiaochen Tian ◽  
Lianjun Gao ◽  
Huihua Li ◽  
Xiaomeng Yin ◽  
...  

2019 ◽  
Author(s):  
Shan Zou ◽  
Lishan Wu ◽  
Zeliang Chen ◽  
Hongxiao Li ◽  
Hongjuan Chen ◽  
...  

Abstract Background: Numerous studies have demonstrated that patients with non-O blood groups have higher risk for venous thromboembolism than those with O blood group. However, it has remained unknown about the effect of ABO blood groups on warfarin dose requirements in patients receiving anticoagulation in Chinese Han population. The study aimed to investigate the influence of ABO blood groups on warfarin dose requirements in Chinese Han population. Methods: A retrospective study was conducted in the First Affiliated Hospital of Shantou University Medical College in Southern China. Three hundreds and 58 patients with confirmed diagnosis of deep venous thromboembolism and atrial fibrillation were included. Frequency of blood groups and warfarin dose requirements were determined. Results: Of 358 patients with deep venous thromboembolism and atrial fibrillation, 111 patients had blood group A (31.01%), 104 patinets had blood group B (29.05%), 20 patients had blood group AB (5.59%), and 123 patients had blood group O (34.36%). The patients with O blood group had a lower warfarin dose requirements compared with those with A, B and AB blood group. Conclusion: Our study showed that patients with non-O blood groups require higher doses of warfarin.


2021 ◽  
Author(s):  
Yi Liu ◽  
Bing Lang ◽  
Robert C. Smith ◽  
Guodong Wang ◽  
Jijun Wang ◽  
...  

AbstractBackgroundAlthough epigenetic dysregulation has long been proposed to promote the onset of schizophrenia, the landscape of the methylomic changes across the whole genome is yet established.MethodsUsing Infinium Human Methylation 850 BeadChip Array and MethylTarget sequencing method, we investigated the genome-wide methylation profiles and further validated methylation profiles of target genes in peripheral blood lymphocytes between individuals with psychosis risk syndrome (PRS), patients with first-episode schizophrenia (FES) and healthy controls (HC) in Chinese Han population.ResultsWe detected 372 sites between psychosis risk syndrome (PRS) and healthy controls (HC), which increased to 460 sites in first-episode schizophrenia (FES) with 207 sites shared. Both PRS and FES featured profound hypomethylation within gene body. Gene ontology and network annotation merged on loci enriched in disease associated signaling pathways (MAPK(Mitogen Activated Protein Kinases), Glutamatergic, GABAergic etc.).ConclusionsOur study implicated characteristic hypomethylation in both the discovery and validation cohorts in SYNGAP1, one of the frequently studied genes in neurodevelopmental disorders. This is the first methylome-wide association study between PRS and FES in Chinese Han population. Our findings provide potential biomarkers that can be used for future development of disease therapy and management.


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