scholarly journals Relationship between −344T/C polymorphism in the aldosterone synthase gene and atrial fibrillation in patients with essential hypertension

2011 ◽  
Vol 12 (4) ◽  
pp. 557-563 ◽  
Author(s):  
Xiaojian Sun ◽  
Jun Yang ◽  
Xiaofei Hou ◽  
Jun Li ◽  
Yu Shi ◽  
...  

Introduction: Aldosterone plays an important role in the pathogenesis of non-familial atrial fibrillation (AF). We tested the hypothesis that the −344T/C polymorphism in the aldosterone synthase gene may be associated with non-familial AF in Chinese patients with hypertension. Materials and methods: We performed a 1:1 paired case–control study in 310 cases of hypertension with AF and same number matched controls. The −344T/C polymorphism was determined with polymerase chain reaction–restriction fragment length polymorphism. Results: The distribution of the CYP11B2 genotypes (TT, TC and CC) was 41.9%, 50.6%, and 7.4% in AF patients, which was not different from controls (48.4%, 44.5%, and 7.1%, χ2 = 2.675, p = 0.263). The difference between the C allele (32.3% vs. 29.4%) was also not significant between two groups (χ2 = 1.661, p = 0.197). Logistic regression analysis showed that LAD and LVEDD (both p < 0.001), rather than the C allele of the CYP11B2 gene ( p= 0.107) were significant predictors for AF. The LAD of C allele carriers is significantly larger than that of non-C allele carriers ( p = 0.009). Conclusions: Our results indicate that the −344T/C polymorphism in the aldostrone synthase gene is not associated with AF but it might be associated with atrial remodelling in hypertensives.

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Kexin Yuan ◽  
Huimin Liu ◽  
Lina Huang ◽  
Xiyun Ren ◽  
Jingjing Liu ◽  
...  

The aim of this study was to explore the association between polymorphisms in signal transducer and activator of transcription protein 3 (STAT3) and the risk of gastric cancer. In the present study, a case-control study was conducted in which rs2293152 and rs744166 polymorphisms inSTAT3were analyzed in 209 Chinese patients with gastric cancer and 294 cancer-free controls. The genotypes were determined by polymerase chain reaction restriction fragment length polymorphism method. For the rs744166 polymorphism, the TC genotype (adjustedOR=0.60, 95% CI = 0.39–0.92, andP=0.020) and CC genotype (adjustedOR=0.41, 95%CI=0.21–0.80, andP=0.009) were associated with a decreased risk of gastric cancer compared to the TT genotype. However, rs2293152 did not show any difference in gastric cancer risk between patients and controls in the CG/CC genotype compared to the GG genotype. Besides, the SNP effects were additive to the effects of environmental factors without any interaction between them in the susceptibility to gastric cancer. Collectively, rs744166 polymorphism might be significantly associated with a decreased risk of gastric cancer in a Chinese population. Additionally, polymorphisms inSTAT3, along with environmental factors, might be associated with the development of gastric cancer.


2018 ◽  
Vol 38 (5) ◽  
Author(s):  
Rui Geng ◽  
Yuansheng Xu ◽  
Wenhao Hu ◽  
Hui Zhao

Matrix metalloproteinase 1 (MMP-1) degrades cartilage, which may result in osteoarthritis (OA) development. Several studies have explored the association between MMP-1 gene rs1799750 polymorphism and OA in different populations. However, the results are inconsistent. The aim of this case–control study was to investigate the association between MMP-1 gene rs1799750 polymorphism and knee OA in a Chinese population. The present study included 308 cases and 404 controls. Genotyping was performed using standard polymerase chain reaction and restriction fragment length polymorphism. The present study found that 2G2G genotype (2G2G vs 1G1G: OR & 95% CI, 2.28 (1.47–3.53), P<0.001; 2G2G + 1G2G vs 1G1G: OR & 95% CI, 1.61 (1.15–2.24), P=0.005; 2G2G vs 1G2G + 1G1G: OR & 95% CI, 1.84 (1.26–2.68), P=0.002) or 2G allele carriers (2G vs 1G: OR & 95% CI, 1.48 (1.20–1.83), P<0.001) of MMP-1 gene rs1799750 polymorphism increased the risk of OA. In conclusion, this case–control study confirms that MMP-1 gene rs1799750 polymorphism increases the risk of knee OA in Chinese Han population.


2020 ◽  
Vol 21 (2) ◽  
pp. 147032032090782
Author(s):  
Wided Khamlaoui ◽  
Sounira Mehri ◽  
Sonia Hammami ◽  
Roberto Elosua ◽  
Mohamed Hammami

Objective: This study aims to determine whether genetic variants in ACE I/D and AGT M235T are associated with overweight-obesity and body mass index (BMI) in a Tunisian population. Methods: We designed an age- and sex-matched case-control study. The height and weight were measured and BMI was calculated. A total of 259 overweight-obese patients and 369 healthy controls were genotyped for the ACE I/D and AGT M235T genes using polymerase chain reaction and restriction fragment length polymorphism. Results: ACE I/D and AGT M235T genes were associated with BMI, waist circumference and overweight-obesity (p⩽0.001). In an additive model, the I and the M alleles in ACE and AGT variants, respectively, were associated with a lower BMI: –1.45 and −2.29 units, respectively. ACE I/D genotypes were associated with dyslipidemia; AGT M235T genotypes with dyslipidemia and total cholesterol. Conclusion: These data suggest that variations in ACE I/D and AGT M235T affect the risk of overweight-obesity, BMI and dyslipidemia, and could point to a key molecular pathway of metabolic syndrome and its related comorbidities.


2021 ◽  
Vol 10 (12) ◽  
pp. 2647
Author(s):  
Marwa Ben Ali Gannoun ◽  
Nozha Raguema ◽  
Hedia Zitouni ◽  
Meriem Mehdi ◽  
Ondrej Seda ◽  
...  

The abnormal production of matrix metalloproteinases (MMPs), especially MMP-9 and MMP-2, plays a pivotal role in hypertensive disorders of pregnancy, and as such, can influence the development of preeclampsia. These alterations may result from functional genetic polymorphisms in the promoter region of MMP-9 and MMP-2 genes, which modify MMP-9 and MMP-2 expression. We investigated the association of MMP-9 polymorphism rs3918242 (-1562 C>T) and MMP-2 polymorphism rs2285053 (-735 C>T) with the risk of preeclampsia. This case–control study was conducted on 345 women with preeclampsia and 281 age-matched women with normal pregnancies from Tunisian hospitals. Genomic DNA was extracted from whole blood collected at delivery. Genotypes for -1562 C>T and -735 C>T polymorphisms were performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). An increased frequency of heterozygous MMP-9 -1562 C/T genotype carriers was observed in women with preeclampsia compared to healthy controls (p = 0.03). In contrast, the MMP-2 -735 C>T polymorphism was not significantly different regarding frequency distribution of the allele and genotype between healthy pregnant women and women with preeclampsia. Our study suggests that the MMP-9 -1562 C/T variant, associated with high MMP-9 production, could be a genetic risk factor for preeclampsia in Tunisian women.


Life ◽  
2021 ◽  
Vol 11 (11) ◽  
pp. 1218
Author(s):  
Devi Prasad Mandal ◽  
Neeta Mohanty ◽  
Paresh Kumar Behera ◽  
Divya Gopinath ◽  
Sasmita Panda ◽  
...  

Objective: The objective of this prospective observational case–control study is to evaluate the prevalence of Fusobacterium nucleatum in the tissues of oral squamous cell carcinoma (OSCC). Reconnoitering the CCL20-related mechanism of carcinogenesis in Fusobacterium nucleatum-positive OSCC is another objective. Methodology: Tissues from 50 OSCC patients and 30 healthy oral tissues were collected. The prevalence of Fusobacterium nucleatum was evaluated in both tumour and healthy tissue by polymerase chain reaction. The immunohistochemistry of OSCC tissues was conducted to evaluate the difference in the expression of CCL20 between Fusobacterium nucleatum-positive and -negative OSCC tissues. Results: Fusobacterium nucleatum was significantly (p < 0.001) prevalent in OSCC tissues (74%), compared to healthy tissues (26%). No association of Fusobacterium nucleatum or CCL20 immuno-expression with any clinical or histopathological features of OSCC was observed. While the intensity of CCL20 immuno-expression did not differ (p = 0.053), the CCL20-positive cell population was significantly different (p = 0.034) between Fusobacterium nucleatum-positive and -negative OSCC. Conclusion: Fusobacterium nucleatum is possibly prevalent in oral cancer tissues in the Indian population. By using immunohistochemistry, this is the first study to propose that the carcinogenesis in Fusobacterium nucleatum-positive OSCC may be CCL20-related. The findings enrich the knowledge of mechanisms involved in Fusobacterium nucleatum-mediated oral carcinogenesis.


2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Mónica Escamilla-Tilch ◽  
Iris Estrada-García ◽  
Julio Granados ◽  
Roberto Arenas-Guzmán ◽  
Rosalio Ramos-Payan ◽  
...  

Background.Leprosy is a chronic infectious disease caused by the intracellular acid-fast bacilliMycobacterium leprae; it has been determined that genetic factors of the host play an important role in the disease susceptibility. Thus, in this case-control study, we evaluated the possible association between theIL-17A G-197A(rs227593) andIL-17F A7488G(His161Arg, rs763780) gene SNPs and susceptibility to leprosy disease in Mexican population.Methods.Seventy-five leprosy patients and sixty-nine control subjects were included. Both SNPs were genotyped with the polymerase chain reaction-restriction fragment length polymorphism technique.Results.We found nonsignificant differences in genotype and allele frequencies related toIL-17A G-197A(rs227593) andIL-17F A7488G(His161Arg, rs763780) gene SNPs in MB as well as subclinical forms of leprosy disease versus healthy individuals.Conclusions.Since the sample size is not large enough, it is difficult to sustain an association of susceptibility to leprosy with genotypes or allele frequencies ofIL-17A G-197A(rs227593) andIL-17F A7488G(His161Arg, rs763780), suggesting thatIL-17polymorphisms have no significant role in the genetic susceptibility to development of this disease in the Mexican Mestizo population.


2019 ◽  
Vol 39 (11) ◽  
Author(s):  
Haiyang Feng ◽  
Rongbiao Ying ◽  
Tengjiao Chai ◽  
Hailang Chen ◽  
Haixing Ju

Abstract Interleukin (IL)-17 have been reported to be associated with the pathogenesis of colorectal cancer (CRC). Few studies investigated the association between IL-17 gene polymorphisms and risk of CRC with inconsistent findings. Thus, we recruited 352 CRC cases and 433 controls in a Chinese population and their genotyping was done using polymerase chain reaction-restriction fragment length polymorphism method. Our data showed that IL-17A rs2275913 polymorphism was associated with the increased risk of CRC, while no association was observed for IL-17F rs763780 polymorphism. Stratified analyses revealed that the significant association was also obtained in the females, smokers, drinkers and age ≥ 60 years groups for rs2275913 polymorphism. Moreover, the CC and/or GC genotype of rs2275913 polymorphism were correlated with TNM stage and lymph node metastasis. No association was shown between IL-17F rs763780 polymorphism and clinical characteristics of CRC. In conclusion, our data indicate that IL-17A rs2275913 polymorphism but not IL-17F rs763780 polymorphism contributes to increased risk for CRC patients in this Chinese population.


2021 ◽  
Author(s):  
Ming Zou ◽  
Jian-Yong Wang ◽  
Ren-Jun Lv ◽  
Shan-Jing Nie ◽  
Lan-Bing Zhu ◽  
...  

Abstract Background: Deregulation of autophagy is involved in the development and progression of Parkinson’s disease. ATG7, an E1 like enzyme, palys a key role in autophagy. This study aimed to investigating the association between ATG7 polymorphisms and PD susceptibility. Methods: Single nucleotide polymorphisms of ATG7, including rs7625184 and rs2606750, were identified by polymerase chain reaction-restriction fragment length polymorphism in a Han Chinese population consisting of 312 PD patients and 309 healthy controls. Results: Genotyping analyses showed that none of the 2 SNPs was significantly associated with PD risk.Conclusions: Our results suggest that rs7625184 and rs2606750 are not associated with PD susceptibility. Further studies are warranted in revealing the links between ATG7 and PD.


Author(s):  
D V K Irugu ◽  
A Singh ◽  
H Yadav ◽  
H Verma ◽  
R Kumar ◽  
...  

Abstract Objectives This study aimed to evaluate serum otolin-1 levels in patients with benign paroxysmal positional vertigo and to compare these levels with healthy individuals. Method This was a case-control study. After obtaining institutional ethical committee clearance, the serum level of otolin-1 was calculated in adult individuals (18–75 years old) who were divided into group 1 (patients presenting with benign paroxysmal positional vertigo) and group 2 (healthy patients without benign paroxysmal positional vertigo as the control group). Data analysis was carried out to compare the serum levels in the cases and controls. A p-value less than 0.05 was considered significant. Results A total of 70 age-matched individuals (cases, n = 40; controls, n = 30) were included in the study. The mean serum level of otolin-1 was 636.8 pg/ml (range, 259–981 pg/ml) in the group of patients with benign paroxysmal positional vertigo and 236.2 pg/ml (range, 189–370 pg/ml) in the control group. The difference was statistically significant (p = 0.0000). Conclusion The serum levels of otolin-1 in patients with benign paroxysmal positional vertigo are significantly higher compared with individuals without benign paroxysmal positional vertigo.


Sign in / Sign up

Export Citation Format

Share Document