scholarly journals Polymorphisms of the STAT4 gene in the pathogenesis of tuberculosis

2018 ◽  
Vol 38 (4) ◽  
Author(s):  
Shouquan Wu ◽  
Minggui Wang ◽  
Yu Wang ◽  
Miaomiao Zhang ◽  
Jian-Qing He
Keyword(s):  
Disease Risk ◽  
Inflammatory Diseases ◽  
Signal Transducer ◽  
Nucleotide Polymorphisms ◽  
Bonferroni Correction ◽  
Single Nucleotide ◽  
P Values ◽  
Ltbi Group ◽  
Latent Tb ◽  
Latent Tb Infection

The signal transducer and activator of transcription 4 (STAT4) gene encodes a transcription factor that transmits signals induced by several cytokines which play critical roles in the development of autoimmune and chronic inflammatory diseases. In the present study, we have investigated the association between STAT4 polymorphisms and a predisposition to Mycobacterium tuberculosis (MTB) infection and pulmonary tuberculosis (PTB). In the present study, a total of 209 cases of PTB, 201 subjects with latent TB infection (LTBI), and 204 healthy controls (HC) were included. Logistic regression analyses were used to calculate P-values, odds ratios (ORs), and 95% confidence intervals (CIs) for assessing the association between single nucleotide polymorphisms (SNPs) and disease risk. We used Bonferroni correction to adjust the P-values. Genotyping was conducted using the improved multiplex ligase detection reaction (iMLDR) method. For the rs7574865 polymorphism, the GT genotype is less frequent in the LTBI group compared with HC (P=0.028, OR = 0.62; 95%CI: 0.40–0.95). In addition, the prevalence of the rs897200 CC genotype was lower in the PTB cases compared with LTBI individuals (P=0.039, OR = 0.54; 95%CI: 0.30–0.97). However, no SNPs within STAT4 were associated with PTB or LTBI after Bonferroni correction. Our study demonstrated that STAT4 variants were not related to LTBI and PTB.

scholarly journals NPSR1 Gene Is Associated with Reduced Risk of Rheumatoid Arthritis

2012 ◽  
Vol 39 (6) ◽  
pp. 1166-1170 ◽  
Author(s):  
GEMA ROBLEDO ◽  
MIGUEL ANGEL GONZÁLEZ-GAY ◽  
BENJAMÍN FERNÁNDEZ-GUTIÉRREZ ◽  
JOSÉ RAMÓN LAMAS ◽  
ALEJANDRO BALSA ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Inflammatory Diseases ◽  
Nucleotide Polymorphisms ◽  
Bonferroni Correction ◽  
Single Nucleotide ◽  
Intronic Region ◽  
Polymerase Chain Reaction Technology ◽  
Polymerase Chain ◽  
G Protein Coupled ◽  
Common Genetic Factor

Objective.Neuropeptide S receptor 1 (NPSR1) is a G protein-coupled receptor involved in immune response and is associated with several inflammatory diseases. We investigated the possible contribution of several polymorphisms in the intronic region of NPSR1 to rheumatoid arthritis (RA).Methods.Genotyping of 7 single-nucleotide polymorphisms (SNP) was performed in a total of 1232 patients with RA and 983 healthy controls of Spanish white origin by real-time polymerase chain reaction technology, using the TaqMan 5′-allele discrimination assay.Results.One out of the 7 SNP analyzed (rs740347) was associated with RA [p after Bonferroni correction (pBNF) = 1.2 × 10−3, OR 0.73]. An association was also observed with rheumatoid factor-positive and shared epitope-positive RA (pBNF = 0.011, OR 0.73; pBNF = 0.037, OR 0.75, respectively).Conclusion.Our results show that variations in the NPSR1 intronic region are associated with low risk in patients with RA, supporting other evidence that this locus represents a common genetic factor in inflammatory diseases.

scholarly journals Genetic Polymorphisms ofIL1B, IL6,andTNFαin a Chinese Han Population with Pulmonary Tuberculosis

2018 ◽  
Vol 2018 ◽  
pp. 1-10 ◽  
Author(s):  
Shouquan Wu ◽  
Yu Wang ◽  
Miaomiao Zhang ◽  
Saurav S. Shrestha ◽  
Minggui Wang ◽  
...  
Keyword(s):  
Pulmonary Tuberculosis ◽  
Protective Factor ◽  
Disease Risk ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Increased Risk ◽  
Latent Tb ◽  
Cytokine Gene Polymorphisms ◽  
Latent Tb Infection ◽  
The Relationship

Background. The factors that predispose to pulmonary tuberculosis (PTB) are not fully understood. Previous studies have shown that cytokine gene polymorphisms were associated with PTB.Objectives. In this study, we have investigated the relationship betweenILB,IL6,andTNFαpolymorphisms and a predisposition toMycobacterium tuberculosis(MTB) infection and PTB.Methods. A total of 209 cases of PTB, 201 subjects with latent TB infection (LTBI), and 204 healthy controls (HCS) were included in this study. Logistic regression analyses under allelic, homozygous, and heterozygous models were used to calculatePvalues, odds ratios (ORs), and 95% confidence intervals (CIs) for assessing the association between single nucleotide polymorphisms (SNPs) and disease risk, adjusting for sex and age. Genotyping was conducted using the improved multiplex ligase detection reaction (iMLDR) method.Results. When comparing PTB patients with LTBI subjects, significant associations with disease development were observed for SNPs ofIL6andTNFα. When comparing LTBI subjects with HCS,IL1Bpolymorphisms were significantly associated with LIBI. Haplotype analyses suggested that the CGG haplotype ofIL1Bwas associated with an increased risk of PTB (P=0.039, OR = 1.34, 95% CI: 1.01–1.76), while the TTGCG haplotype ofTNFαwas a protective factor against PTB (P=0.039, OR = 0.66, 95% CI: 0.44–0.98).Conclusion. Our study demonstrated thatIL1Bvariants were related to LTBI andIL6andTNFαvariants were associated with PTB.

scholarly journals IL23RandIL12BSNPs and Haplotypes Strongly Associate with Crohn's Disease Risk in a New Zealand Population

2010 ◽  
Vol 2010 ◽  
pp. 1-12 ◽  
Author(s):  
Lynnette R. Ferguson ◽  
Dug Yeo Han ◽  
Alan G. Fraser ◽  
Claudia Huebner ◽  
Wen Jiun Lam ◽  
...  
Keyword(s):  
Crohn’S Disease ◽  
New Zealand ◽  
Crohn's Disease ◽  
Bowel Resection ◽  
Disease Risk ◽  
Normal Population ◽  
Nucleotide Polymorphisms ◽  
Wild Type ◽  
Single Nucleotide ◽  
Type D

DNA samples from 339 Crohn's disease (CD) and 407 randomly selected controls from the Auckland (New Zealand) IBD project, were genotyped for five common single nucleotide polymorphisms inIL-23R(rs11805303, rs7517847, rs1343151, rs11209026, and rs10889677) and two inIL-12B(rs1363670 and rs6887695). While theIL-12Bvariants did not show an overall association and otherIL23Rvariants led to minor changes in the risk of CD, rs1343151 and/or rs7517847 variants in theIL-23Rgene strongly reduced the risk of developing CD at both allelic and genotype levels. A significantly decreased risk of first diagnosis of childhood CD was observed in individuals carrying the A allele of rs1343151, or between 17–40 y in individuals carrying the G allele in rs7517847 ofIL-23R. A significantly decreased risk of ileocolonic or structuring disease was observed in individuals carrying the A allele in either rs11209026 or rs1343151, or the G allele in rs7517847 ofIL-23R, and when such individuals did develop the disease, they were unlikely to require a bowel resection. Certain haplotypes very strongly modified risk. There was evidence for interactions ofIL-23Rvariants with theNOD2wild-type (d/d) genotype. Down-regulating the function of theIL-23Rgene may decrease CD risk in the normal population.

scholarly journals Lack of gene–diuretic interactions on the risk of incident gout: the Nurses’ Health Study and Health Professionals Follow-up Study

2015 ◽  
Vol 74 (7) ◽  
pp. 1394-1398 ◽  
Author(s):  
Ying Bao ◽  
Gary Curhan ◽  
Tony Merriman ◽  
Robert Plenge ◽  
Peter Kraft ◽  
...  
Keyword(s):  
Genetic Predisposition ◽  
Health Professionals ◽  
Risk Scores ◽  
Health Study ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
P Values ◽  
Follow Up Study

BackgroundDiuretic-induced gout might occur only among those with a genetic predisposition to hyperuricaemia, as suggested by a recent study with 108 self-reported gout cases.MethodsWe examined the role of urate genes on the risk of diuretic-induced incident gout in 6850 women from the Nurses’ Health Study (NHS) and in 4223 men from the Health Professionals Follow-up Study (HPFS). Two published genetic risk scores (GRSs) were calculated using urate-associated single-nucleotide polymorphisms for 8 (GRS8) and 29 genes (GRS29).ResultsOur analyses included 727 and 354 confirmed incident gout cases in HPFS and NHS, respectively. The multivariate relative risk (RR) for diuretic use was 2.20 and 1.69 among those with GRS8 < and ≥ the median (p for interaction=0.27). The corresponding RRs using GRS29 were 2.19 and 1.88 (p for interaction=0.40). The lack of interaction persisted in NHS (all p values >0.20) and in our analyses limited to those with hypertension in both cohorts. SLC22A11 (OAT4) showed a significant interaction only among women but in the opposite direction to the recent study.ConclusionsIn these large prospective studies, individuals with a genetic predisposition for hyperuricaemia are not at a higher risk of developing diuretic-induced gout than those without.

Association between Single-Nucleotide Polymorphisms of the hOGG1,NEIL1,APEX1, FEN1,LIG1, and LIG3 Genes and Alzheimer's Disease Risk

2016 ◽  
Vol 73 (2) ◽  
pp. 98-107 ◽  
Author(s):  
Dominik Kwiatkowski ◽  
Piotr Czarny ◽  
Monika Toma ◽  
Anna Korycinska ◽  
Katarzyna Sowinska ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Single Nucleotide Polymorphisms ◽  
Disease Risk ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

scholarly journals Association Between SCN1A rs2298771, SCN1A rs10188577, SCN2A rs17183814, and SCN2A rs2304016 Polymorphisms and Responsiveness to Antiepileptic Drugs: A Meta-Analysis

2021 ◽  
Vol 11 ◽  
Author(s):  
Mengmeng Li ◽  
Rui Zhong ◽  
Yingxue Lu ◽  
Qian Zhao ◽  
Guangjian Li ◽  
...  
Keyword(s):  
Antiepileptic Drugs ◽  
South Asians ◽  
Meta Analysis ◽  
Genetic Models ◽  
Cochrane Library ◽  
Nucleotide Polymorphisms ◽  
Bonferroni Correction ◽  
Single Nucleotide ◽  
Meta Analyses ◽  
Significant Publication Bias

Background:SCN1A and SCN2A genes have been reported to be associated with the efficacy of single and combined antiepileptic therapy, but the results remain contradictory. Previous meta-analyses on this topic mainly focused on the SCN1A rs3812718 polymorphism. However, meta-analyses focused on SCN1A rs2298771, SCN1A rs10188577, SCN2A rs17183814, or SCN2A rs2304016 polymorphisms are scarce or non-existent.Objective: We aimed to conduct a meta-analysis to determine the effects of SCN1A rs2298771, SCN1A rs10188577, SCN2A rs17183814, and SCN2A rs2304016 polymorphisms on resistance to antiepileptic drugs (AEDs).Methods: We searched the PubMed, Embase, Cochrane Library, WANFANG, and CNKI databases up to June 2020 to collect studies on the association of SCN1A and SCN2A polymorphisms with reactivity to AEDs. We calculated the pooled odds ratios (ORs) under the allelic, homozygous, heterozygous, dominant, and recessive genetic models to identify the association between the four single-nucleotide polymorphisms (SNPs) and resistance to AEDs.Results: Our meta-analysis included 19 eligible studies. The results showed that the SCN1A rs2298771 polymorphism was related to AED resistance in the allelic, homozygous, and recessive genetic models (G vs. A: OR = 1.20, 95% CI: 1.012–1.424; GG vs. AA: OR = 1.567, 95% CI: 1.147–2.142; GG vs. AA + AG: OR = 1.408, 95% CI: 1.053–1.882). The homozygous model remained significant after Bonferroni correction (P &lt; 0.0125). Further subgroup analyses demonstrated the significance of the correlation in the dominant model in Caucasians (South Asians) after Bonferroni correction (GG + GA vs. AA: OR = 1.620, 95% CI: 1.165–2.252). However, no association between SCN1A rs2298771 polymorphism and resistance to AEDs was found in Asians or Caucasians (non-South Asians). For SCN1A rs10188577, SCN2A rs17183814, and SCN2A rs2304016 polymorphisms, the correlations with responsiveness to AEDs were not significant in the overall population nor in any subgroup after conducting the Bonferroni correction. The results for SCN1A rs2298771, SCN1A rs10188577, and SCN2A rs2304016 polymorphisms were stable and reliable according to sensitivity analysis and Begg and Egger tests. However, the results for SCN2A rs17183814 polymorphism have to be treated cautiously owing to the significant publication bias revealed by Begg and Egger tests.Conclusions: The present meta-analysis indicated that SCN1A rs2298771 polymorphism significantly affects resistance to AEDs in the overall population and Caucasians (South Asians). There were no significant correlations between SCN1A rs10188577, SCN2A rs17183814, and SCN2A rs2304016 polymorphisms and resistance to AEDs.

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