scholarly journals The association of adiponectin gene polymorphisms with susceptibility and progression of NAFLD in a cohort of Egyptian patients

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Eman M. Hasan ◽  
Rasha A. Abd Al Aziz ◽  
Dina Sabry ◽  
Hedy A. Badary ◽  
Yasmine Gaber ◽  
...  
Keyword(s):  
Multivariate Regression ◽  
Multivariate Regression Analysis ◽  
Nucleotide Polymorphisms ◽  
Adiponectin Gene ◽  
Single Nucleotide ◽  
Alcoholic Fatty Liver ◽  
Increased Risk ◽  
Egyptian Patients ◽  
Independent Risk Factors ◽  
Alcoholic Fatty Liver Disease

Abstract Background Several genetic polymorphisms have been proven to play a key role in the progression of non-alcoholic fatty liver disease (NAFLD) from simple steatosis to NASH with fibrosis. Our aim was to study the effect of single nucleotide polymorphisms (SNPs) in the adiponectin gene, namely rs266729 and rs3774261, on susceptibility to NAFLD and disease progression. Results There was a definitive association between polymorphisms of the studied SNPs and NAFLD. Among rs266729, CG was significantly higher among patients than controls showing increased risk for NAFLD (P<0.05). AA genotype of the rs3774261 variant was significantly lower in patients than in controls (P value< 0.001) while AG and GG genotypes were significantly higher in patients than in controls (P value<0.05); A allele was significantly higher among controls (P=0.019) which might have a protective effect. None of the variants correlated significantly with the degree of steatosis. Using multivariate regression analysis, there was no significant correlation with any of the independent risk factors to the degree of steatosis. Conclusions There was an association between polymorphisms of the studied SNPs of rs266729 and rs3774261 of the adiponectin gene and NAFLD.

Susceptible genes of restless legs syndrome in migraine

Cephalalgia ◽  
2016 ◽  
Vol 36 (11) ◽  
pp. 1028-1037 ◽  
Author(s):  
Jong-Ling Fuh ◽  
Ming-Yi Chung ◽  
Shu-Chih Yao ◽  
Ping-Kun Chen ◽  
Yi-Chu Liao ◽  
...  
Keyword(s):  
Restless Legs Syndrome ◽  
Genetic Variants ◽  
Multivariate Regression ◽  
Iron Homeostasis ◽  
Nucleotide Polymorphisms ◽  
Regression Analyses ◽  
Single Nucleotide ◽  
Association Analyses ◽  
Restless Legs ◽  
Increased Risk

Objective Several genetic variants have been found to increase the risk of restless legs syndrome (RLS). The aim of the present study was to determine if these genetic variants were also associated with the comorbidity of RLS and migraine in patients. Methods Thirteen single-nucleotide polymorphisms (SNPs) at six RLS risk loci ( MEIS1, BTBD9, MAP2K5, PTPRD, TOX3, and an intergenic region on chromosome 2p14) were genotyped in 211 migraine patients with RLS and 781 migraine patients without RLS. Association analyses were performed for the overall cohort, as well as for the subgroups of patients who experienced migraines with and without aura and episodic migraines (EMs) vs. chronic migraines (CMs). In order to verify which genetic markers were potentially related to the incidence of RLS in migraine patients, multivariate regression analyses were also performed. Results Among the six tested loci, only MEIS1 was significantly associated with RLS. The most significant SNP of MEIS1, rs2300478, increased the risk of RLS by 1.42-fold in the overall cohort ( p = 0.0047). In the subgroup analyses, MEIS1 augmented the risk of RLS only in the patients who experienced EMs (odds ratio (OR) = 1.99, p = 0.0004) and not those experiencing CMs. Multivariate regression analyses further showed that rs2300478 in MEIS1 (OR = 1.39, p = 0.018), a CM diagnosis (OR = 1.52, p = 0.022), and depression (OR = 1.86, p = 0.005) were independent predictors of RLS in migraine. Conclusions MEIS1 variants were associated with an increased risk of RLS in migraine patients. It is possible that an imbalance in iron homeostasis and the dopaminergic system may represent a link between RLS incidence and migraines.

scholarly journals The interaction of SAMM50-rs738491, PARVB-rs5764455 and PNPLA3-rs738409 increases the susceptibility to nonalcoholic steatohepatitis

2020 ◽  
Author(s):  
Ke Xu ◽  
Kenneth I. Zheng ◽  
Pei-Wu Zhu ◽  
Wen-Yue Liu ◽  
Hong-Lei Ma ◽  
...  
Keyword(s):  
Liver Disease ◽  
Nonalcoholic Steatohepatitis ◽  
Gene Interactions ◽  
Multivariable Logistic Regression Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Alcoholic Fatty Liver ◽  
Chinese Cohort ◽  
The Mean ◽  
Alcoholic Fatty Liver Disease

Abstract Background: Previous studies have reported that single nucleotide polymorphisms (SNPs) in SAMM50-rs738491, PARVB-rs5764455 and PNPLA3-rs738409 are associated with the development of non-alcoholic fatty liver disease (NAFLD). However, no studies have examined the effect of interactions between these three genotypes to affect liver disease severity. Objective: Our aim was to assess the effect of these three SNPs on nonalcoholic steatohepatitis (NASH) and to investigate gene-gene interactions in a Chinese cohort of patients with biopsy-proven NAFLD.Methods: 415 adult patients with biopsy-proven NAFLD were recruited to the study. Multivariable logistic regression analysis was undertaken to test associations between NASH and SNPs in SAMM50-rs738491, PARVB-rs5764455 and PNPLA3-rs738409. Gene-gene interactions were analyzed by performing a generalized multifactor dimensionality reduction (GMDR) analysis.Results: The mean age of patients was 41.3±12.5 years and 75.9% of them were men. Patients with SAMM50-rs738491 TT, PARVB-rs5764455 AA or PNPLA3-rs738409 GG genotypes had a higher risk of having NASH even after adjustment for age, sex and body mass index. Furthermore, GMDR analysis showed that the combination of all three SNPs was the best model to predict NASH. Additionally, the odds ratio of the haplotype A-G-T for predicting risk of NASH was nearly three times higher than that of the haplotype G-C-C. Conclusions: Patients with NAFLD who have SAMM50-rs738491 TT, PARVB-rs5764455 AA or PNPLA3-rs738409 GG genotypes are at higher risk of NASH. Moreover, these SNPs synergistically interact to increase the susceptibility to NASH.

scholarly journals Association of Genes Related to Oxidative Stress with the Extent of Coronary Atherosclerosis

Life ◽  
2020 ◽  
Vol 10 (9) ◽  
pp. 210
Author(s):  
Milena Racis ◽  
Anna Stanisławska-Sachadyn ◽  
Wojciech Sobiczewski ◽  
Marcin Wirtwein ◽  
Michał Krzemiński ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Genetic Risk Score ◽  
Critical Role ◽  
Nucleotide Polymorphisms ◽  
Gensini Score ◽  
Valuable Component ◽  
Single Nucleotide ◽  
Risk Alleles ◽  
Increased Risk ◽  
Independent Risk Factors

Oxidative stress is believed to play a critical role in atherosclerosis initiation and progression. In line with this, in a group of 1099 subjects, we determined eight single nucleotide polymorphisms (SNPs) related to oxidative stress (PON1 c.575A>G, MPO c.−463G>A, SOD2 c.47T>C, GCLM c.−590C>T, NOS3 c.894G>T, NOS3 c.−786T>C, CYBA c.214C>T, and CYBA c.−932A>G) and assessed the extent of atherosclerosis in coronary arteries based on Gensini score. An increased risk of having a Gensini score in the higher half of the distribution was observed for the PON1 c.575G allele (odds ratio (OR) = 1.27, 95% confidence interval (CI): 1.004–1.617, p = 0.046). Next, the genetic risk score (GRS) for the additive effect of the total number of pro-oxidative alleles was assessed. We noted an increase in the risk of having a Gensini score above the median with the maximum number of risk alleles (OR = 2.47, 95% CI: 1.19–5.23, p = 0.014). A univariate Spearman’s test revealed significant correlation between the total number of pro-oxidant alleles (GRS) and the Gensini score (ρ = 0.068, p = 0.03). In conclusion, the PON1 c.575A>G variant and the high number of risk alleles (GRS) were independent risk factors for a high Gensini score. We suggest, however, that GRS might occur as a more valuable component in adding a predictive value to the genetic background of atherosclerosis.

scholarly journals High immunoglobulin E level is associated with increased readmission in children with bronchopneumonia

2019 ◽  
Vol 13 ◽  
pp. 175346661987983
Author(s):  
Cun You ◽  
Guo Ran ◽  
Xiao Wu ◽  
Yu Wang ◽  
Hua Tian ◽  
...  
Keyword(s):  
Multivariate Regression ◽  
Respiratory Tract Infections ◽  
Immunoglobulin E ◽  
Multivariate Regression Analysis ◽  
Index Hospitalization ◽  
Lower Respiratory Tract Infections ◽  
Increased Risk ◽  
Children With Asthma ◽  
Independent Risk Factors ◽  
Tract Infections

Background: Increased immunoglobulin E (IgE) is associated with lower respiratory tract infections. The study aimed to evaluate the association between IgE and the rate of bronchopneumonia-related readmission within 12 months in children. Methods: A total of 1099 children aged over 1 year with bronchopneumonia, from 1 January 2015 to 31 December 2016, were enrolled. Unplanned readmissions within 12 months after discharge were observed. Multivariate regression analysis was used to identify independent risk factors for rehospitalization. Results: The rate of rehospitalization was 11.4% (125/1099). Compared to the nonreadmission children, IgE levels, the proportion of children with asthma and hospitalization duration were significantly higher in the readmission children ( p < 0.05). Compared to the children with normal IgE (≤ 165 IU/ml) levels, the risk of rehospitalization was significantly higher in children with abnormal IgE [odds ratio (OR) 1.781, 95% confidence interval (CI) 1.209–2.624, p = 0.004]. Children with IgE level more than three times the upper limit had even higher risks of readmission (OR 2.037, 95%CI 1.172–3.540, p = 0.012). Meanwhile, the risk of readmission in children with abnormal IgE combined with or without bronchial asthma was significantly higher (OR 2.548 and 1.918, 95% CI 1.490–4.358 and 1.218–3.020, p = 0.001 and 0.005, respectively). Conclusions: Children aged over 1 year with bronchopneumonia who had higher IgE levels are at increased risk for rehospitalization within the first 12 months of the index hospitalization and IgE level may be used as a predictor of rehospitalization in children with bronchopneumonia.

scholarly journals A PDCD1 Role in the Genetic Predisposition to NAFLD-HCC?

Cancers ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1412
Author(s):  
Nardeen Eldafashi ◽  
Rebecca Darlay ◽  
Ruchi Shukla ◽  
Misti Vanette McCain ◽  
Robyn Watson ◽  
...  
Keyword(s):  
Animal Studies ◽  
Tolerance Induction ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genetic Studies ◽  
Alcoholic Fatty Liver ◽  
Immune Tolerance Induction ◽  
Potential Impact ◽  
Alcoholic Fatty Liver Disease

Obesity and non-alcoholic fatty liver disease (NAFLD) are contributing to the global rise in deaths from hepatocellular carcinoma (HCC). The pathogenesis of NAFLD-HCC is not well understood. The severity of hepatic steatosis, steatohepatitis and fibrosis are key pathogenic mechanisms, but animal studies suggest altered immune responses are also involved. Genetic studies have so far highlighted a major role of gene variants promoting fat deposition in the liver (PNPLA3 rs738409; TM6SF2 rs58542926). Here, we have considered single-nucleotide polymorphisms (SNPs) in candidate immunoregulatory genes (MICA rs2596542; CD44 rs187115; PDCD1 rs7421861 and rs10204525), in 594 patients with NAFLD and 391 with NAFLD-HCC, from three European centres. Associations between age, body mass index, diabetes, cirrhosis and SNPs with HCC development were explored. PNPLA3 and TM6SF2 SNPs were associated with both progression to cirrhosis and NAFLD-HCC development, while PDCD1 SNPs were specifically associated with NAFLD-HCC risk, regardless of cirrhosis. PDCD1 rs7421861 was independently associated with NAFLD-HCC development, while PDCD1 rs10204525 acquired significance after adjusting for other risks, being most notable in the smaller numbers of women with NAFLD-HCC. The study highlights the potential impact of inter individual variation in immune tolerance induction in patients with NAFLD, both in the presence and absence of cirrhosis.

Sign in / Sign up

Export Citation Format

Share Document