scholarly journals PTPN22 Gene Polymorphisms Are Associated with Susceptibility to Large Artery Atherosclerotic Stroke and Microembolic Signals

2019 ◽  
Vol 2019 ◽  
pp. 1-8
Author(s):  
Lingyan Zhou ◽  
Kun Wang ◽  
Junhong Wang ◽  
Zhenfeng Zhou ◽  
Yufei Cheng ◽  
...  
Keyword(s):  
Protein Tyrosine Phosphatase ◽  
Odds Ratio ◽  
Chinese Population ◽  
Interaction Analysis ◽  
Tyrosine Phosphatase ◽  
Taqman Assay ◽  
Large Artery ◽  
Ptpn22 Gene ◽  
Increased Risk ◽  
The Relationship

Large artery atherosclerotic stroke (LAAS) is the most common ischemic stroke (IS) subtype, and microemboli may be clinically important for indicating increased risk of IS. The inflammatory process of atherosclerosis is well known, and lymphoid phosphatase (Lyp), which is encoded by the protein tyrosine phosphatase nonreceptor type 22 (PTPN22) gene, plays an important role in the inflammatory response. Our study was intended to evaluate the relationship between PTPN22 gene and LAAS and microembolic signals (MES). Three loci of the PTPN22 gene (rs2476599, rs1217414, and rs2488457) were analyzed in 364 LAAS patients and 369 control subjects. A genotyping determination was performed using the TaqMan assay. The G allele of rs2488457 might be related to a higher risk for developing LAAS and MES (odds ratio OR=1.456, 95% confidence interval (CI) 1.156-1.833, P=0.001; OR=1.652, 95% CI 1.177-2.319, P=0.004, respectively). In the LAAS group, the prevalence of the GTG haplotype was higher (P<0.001) and the prevalence of the GCC haplotype was lower (P=0.001). An interaction analysis of rs2488457 with smoking showed that smokers with the CG/GG genotypes had a higher risk of LAAS, compared to nonsmokers with the rs2488457 CC genotype (OR=2.492, 95% CI 1.510–4.114, P<0.001). Our research indicated that the PTPN22 rs2488457 might be related to the occurrence of LAAS and MES in the Han Chinese population. In addition, the rs2488457 polymorphism and the environmental factor of smoking jointly influenced the susceptibility of LAAS.

scholarly journals PARP1 rs1136410 Val762Ala contributes to an increased risk of overall cancer in the East Asian population: a meta-analysis

2021 ◽  
Vol 49 (3) ◽  
pp. 030006052199295
Author(s):  
Yijuan Xin ◽  
Liu Yang ◽  
Mingquan Su ◽  
Xiaoli Cheng ◽  
Lin Zhu ◽  
...  
Keyword(s):  
Cancer Risk ◽  
Odds Ratio ◽  
Chinese Population ◽  
Meta Analysis ◽  
Asian Population ◽  
Cancer Type ◽  
East Asians ◽  
Asian Populations ◽  
Increased Risk ◽  
Meta Analyses

Objectives To investigate the association between poly(ADP-ribose) polymerase 1 ( PARP1) rs1136410 Val762Ala and cancer risk in Asian populations, as published findings remain controversial. Methods The PubMed and EMBASE databases were searched, and references of identified studies and reviews were screened, to find relevant studies. Meta-analyses were performed to evaluate the association between PARP1 rs1136410 Val762Ala and cancer risk, reported as odds ratio (OR) and 95% confidence interval (CI). Results A total of 24 studies with 8 926 cases and 15 295 controls were included. Overall, a significant association was found between PARP1 rs1136410 Val762Ala and cancer risk in East Asians (homozygous: OR 1.19, 95% CI 1.06, 1.35; heterozygous: OR 1.10, 95% CI 1.04, 1.17; recessive: OR 1.13, 95% CI 1.02, 1.25; dominant: OR 1.13, 95% CI 1.06, 1.19; and allele comparison: OR 1.09, 95% CI 1.03, 1.15). Stratification analyses by race and cancer type revealed similar results for gastric cancer among the Chinese population. Conclusion The findings suggest that PARP1 rs1136410 Val762Ala may be significantly associated with an increased cancer risk in Asians, particularly the Chinese population.

scholarly journals Osteoarthritis, mobility-related comorbidities and mortality: an overview of meta-analyses

2020 ◽  
Vol 12 ◽  
pp. 1759720X2098121
Author(s):  
Gustavo Constantino de Campos ◽  
Raman Mundi ◽  
Craig Whittington ◽  
Marie-Josée Toutounji ◽  
Wilson Ngai ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Odds Ratio ◽  
Meta Analysis ◽  
Inclusion Criteria ◽  
Increased Risk ◽  
All Cause Mortality ◽  
Ischemic Attack ◽  
Meta Analyses ◽  
The Relationship ◽  
Related Mortality

Aims: The objective of this review was to examine the relationship between osteoarthritis (OA) and mobility-related comorbidities, specifically diabetes mellitus (DM) and cardiovascular disease (CVD). It also investigated the relationship between OA and mortality. Methods: An overview of meta-analyses was conducted by performing two targeted searches from inception to June 2020. The association between OA and (i) DM or CVD ( via PubMed and Embase); and (ii) mortality ( via PubMed) was investigated. Meta-analyses were selected if they included studies that examined adults with OA at any site and reported associations between OA and DM, CVD, or mortality. Evidence was synthesized qualitatively. Results: Six meta-analyses met inclusion criteria. One meta-analysis of 20 studies demonstrated a statistically significant association between OA and DM, with pooled odds ratio of 1.41 (95% confidence interval: 1.21, 1.65; n = 1,040,175 patients). One meta-analysis of 15 studies demonstrated significantly increased risk of CVD among OA patients, with a pooled risk ratio of 1.24 (1.12, 1.37, n = 358,944 patients). Stratified by type of CVD, OA was shown to be associated with increased heart failure (HF) and ischemic heart disease (IHD) and reduced transient ischemic attack (TIA). There was no association reported for stroke or myocardial infarction (MI). Three meta-analyses did not find a significant association between OA (any site) and all-cause mortality. However, OA was found to be significantly associated with cardiovascular-related death across two meta-analyses. Conclusion: The identified meta-analyses reported significantly increased risk of both DM and CVD (particularly, HF and IHD) among OA patients. It was not possible to confirm consistent directional or causal relationships. OA was found to be associated with increased mortality, but mostly in relation to CVD-related mortality, suggesting that further study is warranted in this area.

Abstract WP200: Post-operative Infection Does not Increase Risk of Post-operative Stroke: Analysis From a Nationwide Quality Initiative Program

Stroke ◽  
2016 ◽  
Vol 47 (suppl_1) ◽  
Author(s):  
Benjamin R Kummer ◽  
Rebecca Hazan ◽  
Hooman Kamel ◽  
Alexander E Merkler ◽  
Joshua Z Willey ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Odds Ratio ◽  
Postoperative Infection ◽  
Adjusted Odds Ratio ◽  
Risk Of Infection ◽  
Postoperative Stroke ◽  
Increased Risk ◽  
Increase Risk ◽  
Initiative Program ◽  
The Relationship

Introduction: Infection has been described as a trigger for acute ischemic stroke, but the relationship between postoperative infection and the risk of postoperative stroke is unclear. We investigated the association between postoperative infection and stroke using the American College of Surgeons National Surgical Quality Initiative Program (NSQIP) database. Hypothesis: Postoperative infection is associated with an increased risk of postoperative stroke. Methods: We used the NSQIP database to identify all patients who underwent surgery between the years of 2000 and 2010 and developed a postoperative stroke within 30 days of surgery. The group was further stratified according to the presence of infection preceding stroke. Using a logistic regression model adjusted for age, race, sex, medical comorbidities, surgical type, and dichotomized functional status, we compared the risk of stroke in patients with and without preceding infections, and investigated the risk of infection following stroke. Results: 729,886 surgical patients were identified, of whom 2,703 (0.3%) developed postoperative stroke. 848 (0.12%) patients developed both postoperative stroke and infection. Among patients who had postoperative stroke, 100 (3.7%) had developed an infection prior to developing a stroke. Patients with infection prior to stroke had a lower risk of stroke than patients who did not develop infection prior to stroke (adjusted odds ratio [OR] 0.25, 95%CI 0.20-0.32). 748 patients (0.1%) developed an infection after having a postoperative stroke. These patients had a higher risk of infection (incidence rate ratio 2.76, 95%CI 2.57-2.97) and a higher odds of infection (adjusted odds ratio [OR] 3.47, 95%CI 3.18-3.78) than patients who did not have a stroke. Conclusions: We found that the presence of a preceding infection was associated with a low risk of postoperative stroke in a large surgical inpatient sample. Although the total number of strokes may have been under-reported, these results conflict with other studies that report that infection is a trigger for ischemic stroke. Further analyses using more granular data are needed to investigate the relationship between postoperative infection and the risk of postoperative stroke.

scholarly journals CD40 polymorphisms were associated with HCV infection susceptibility among Chinese population

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Ting Tian ◽  
Peng Huang ◽  
Jingjing Wu ◽  
Chunhui Wang ◽  
Haozhi Fan ◽  
...  
Keyword(s):  
Chinese Population ◽  
Pairwise Comparison ◽  
Cross Sectional Study ◽  
Recessive Model ◽  
Hcv Infection ◽  
Taqman Assay ◽  
Cross Sectional ◽  
Antiviral Immune Response ◽  
Logistic Analysis ◽  
Increased Risk

Abstract Background CD40, encoded by TNFRSF5, participates in the survival of B cells, process of antigen presentation and generation of CD8+ T cell memory. It also has an important effect on HCV antiviral immune response. This study aims to investigate whether TNFRSF5 gene polymorphisms are associated with HCV infection outcomes among Chinese population. Methods Three single nucleotide polymorphism (SNPs) (rs1535045, rs1883832, rs4810485) on TNFRSF5 were genotyped by TaqMan assay among Chinese population, including 1513 uninfected subjects, 496 spontaneous viral clearance subjects and 768 persistent HCV-infected subjects. Logistic analysis was used to compare these SNPs among different groups in this cross-sectional study. Functional annotations of the identified SNPs were further evaluated by bioinformatics analysis. Results After adjusted by age, gender and routes of infection, the results of logistic analysis indicated that individuals carrying rs1535045 T allele had a higher risk to infect HCV compared with C allele (in recessive model, adjusted OR = 1.368, 95%CI = 1.070-1.749, P = 0.012). Subjects carried rs1535045 TT genotype were more likely to infect HCV than wild CC genotype (adjusted OR = 1.397, 95%CI = 1.078-1.809, P = 0.011). For rs1883832, T allele was significantly associated with an increased risk of HCV infection (in recessive model, adjusted OR = 1.337, 95%CI = 1.069-1.673, P = 0.011). Subjects with TT genotype had more possibility to infect HCV (adjusted OR = 1.351, 95%CI = 1.060-1.702, P = 0.015). In the stratified analysis, rs1535045 and rs1883832 were remained in various subgroups and the heterogeneity test showed no pronounced heterogeneity in any pairwise comparison (all P > 0.05). In addition, the results of the cumulative effects showed a tendency of that the more risk alleles (rs1535045 T and rs1883832 T) subjects carried, the more possibility of HCV infection exhibited (P<0.001). In haplotype analyses, compared with the CC haplotype, CT, TC and TT was correlated with an increased risk to infect HCV (P = 0.029, P = 0.047 and P<0.001, respectively). Conclusions In conclusion, CD40 polymorphisms were significantly associated with the susceptibility to HCV among Chinese populations.

scholarly journals Replication of GWAS Loci Revealed an Increased Risk of BET1L and H19 Polymorphisms with Intracranial Aneurysm

2019 ◽  
Vol 2019 ◽  
pp. 1-8 ◽  
Author(s):  
Yi Chen ◽  
Xiutian Sima
Keyword(s):  
Intracranial Aneurysm ◽  
Noncoding Rna ◽  
Genome Wide Association Study ◽  
Interaction Analysis ◽  
Taqman Assay ◽  
Functional Polymorphisms ◽  
A Genome ◽  
Increased Risk ◽  
And Gender ◽  
Chromosome 11P15.5

A genome-wide association study (GWAS) identified that BET1L rs2280543 at chromosome 11p15.5 was a susceptibility loci of intracranial aneurysm (IA). Long noncoding RNA H19, located in this region, was reported to play a crucial role in the formation of IA. In this study, we aimed to examine whether BET1L rs2280543 and potentially functional polymorphisms in H19 influence the risk of IA. A hospital-based case-control study was performed involving 542 IA patients and 588 age- and gender-matched controls. The BET1L rs2280543 and H19 polymorphisms were genotyped using the TaqMan assay. The BET1L rs2280543 CT, CT/TT genotypes, and T allele were associated with an increased risk of IA (CT vs. CC, adjusted OR=1.43, 95% CI: 1.08-1.90, P=0.01; CT/TT vs. CC, adjusted OR=1.48, 95% CI: 1.12-1.94, P=0.005; and T vs. C, adjusted OR=1.44, 95% CI: 1.13-1.83, P=0.003). Similarly, the H19 rs217727 TT genotype and T allele were associated with an increased risk of IA (TT vs. CC, adjusted OR=1.90, 95% CI: 1.35-2.67, P<0.001; T vs. C, adjusted OR=1.38, 95% CI: 1.16-1.64, P<0.001). Combined analyses revealed that the rs2280543 CC-rs217727 CT/TT, rs2280543 CT/TT-rs2735971 GG, and rs217727 CT/TT-rs2735971 GG genotypes were related to the risk of IA. Interaction analysis showed that the 3-loci model of rs2280543-rs217727-rs2839698 contributed to an increased risk of IA. These findings suggest that the GWAS-discovered risk loci BET1L rs2280543 may increase IA susceptibility by interacting with lncRNA H19.

scholarly journals Association of Functional Polymorphism in Protein Tyrosine Phosphatase Nonreceptor 22 (PTPN22) Gene with Vitiligo

2020 ◽  
Vol 15 ◽  
pp. 117727192090303
Author(s):  
Ghaleb Bin Huraib ◽  
Fahad Al Harthi ◽  
Misbahul Arfin ◽  
Abdulrahman Aljamal ◽  
Abdulqader Saeed Alrawi ◽  
...  
Keyword(s):  
Protein Tyrosine Phosphatase ◽  
Tyrosine Phosphatase ◽  
Amplification Refractory Mutation System ◽  
Functional Polymorphism ◽  
Ptpn22 Gene ◽  
Protein Tyrosine ◽  
Mutation System ◽  
Pcr Method ◽  
Polymerase Chain ◽  
Saudi Arabians

The protein tyrosine phosphatase nonreceptor 22 (PTPN22) is associated with susceptibility to autoimmune diseases. The functional polymorphism in PTPN22 at 1857 is a strong risk factor for vitiligo susceptibility in Europeans; however, controversy exits in other populations. Present study was aimed to determine whether the PTPN22 C1857T polymorphism confers susceptibility to vitiligo in Saudi Arabians. Genomic DNA was extracted and amplified using tetra primer amplification-refractory mutation system polymerase chain reaction (ARMS-PCR) method. The frequencies of allele T and genotype CT of PTPN22 C1858T polymorphism were significantly higher, whereas those of allele C and genotype CC were lower in patients as compared with controls ( P < 0.0001). The genotype TT was absent in both the patients and controls. It is concluded that PTPN22 C1858T polymorphism is strongly associated with vitiligo susceptibility. However, additional studies are warranted using large number of samples from different ethnicities and geographical areas.

Association Between Nonsyndromic Cleft Lip and Palate and 2 Polymorphic Loci: A Meta-Analysis

2020 ◽  
pp. 105566562096268
Author(s):  
Yusi Wang ◽  
Xueyuan Jia ◽  
Yuandong Qiao ◽  
Lidan Xu ◽  
Xuelong Zhang ◽  
...  
Keyword(s):  
Odds Ratio ◽  
Cleft Lip ◽  
Methylenetetrahydrofolate Reductase ◽  
Cleft Lip And Palate ◽  
Meta Analysis ◽  
Craniofacial Development ◽  
Asian Group ◽  
Potential Association ◽  
Increased Risk ◽  
The Relationship

Objectives: The relationship between Noggin ( NOG) and methylenetetrahydrofolate reductase and nonsyndromic cleft lip and palate (NSCLP) has been reported participate in craniofacial development but need further evidence. To indicate the susceptibility between the 2 genes and NSCLP, rs227731 and rs1801131 polymorphisms were included in the present research. This research may provide some genetic clues for disease detection and surveillance. Design: Seventeen studies including 4023 cases and 5691 controls were provided for meta-analysis, and odds ratio (OR) with 95% CI were obtained to estimate NSCLP risk. Results: Our analysis suggested potential association of rs227731C on increasing the risk of NSCLP in the Caucasian group and total group but not Asian group under all models: allele (OR = 1.45, 95% CI = 1.21-1.75, P < .0001), homozygote (OR = 2.03, 95% CI = 1.42-2.90, P < .0001), heterozygote (OR = 1.44, 95% CI = 1.19-1.73, P = .0001), dominant (OR = 1.61, 95% CI = 1.27-2.04, P < .0001), and recessive models (OR = 1.63, 95% CI = 1.25-2.12, P = .0003). Besides, increased risk is related to rs1801131 in Asian group under 3 models: allele (OR = 1.24, 95% CI = 1.06-1.44, P = .006), heterozygote (OR = 1.24, 95% CI = 1.02-1.52, P = .03), and dominant models (OR = 1.29, 95% CI = 1.06-1.56, P = .009). Conclusions: Our analysis indicates polymorphisms rs227731 and rs1801131 are associated with NSCLP, with predominance of different ethnic group and deepen understanding of NSCLP.

scholarly journals The Protein Tyrosine Phosphatase H1 PTPH1 Supports Proliferation of Keratinocytes and is a Target of the Human Papillomavirus Type 8 E6 Oncogene

Cells ◽  
2019 ◽  
Vol 8 (3) ◽  
pp. 244 ◽  
Author(s):  
Stefanie Taute ◽  
Philipp Böhnke ◽  
Jasmin Sprissler ◽  
Stephanie Buchholz ◽  
Martin Hufbauer ◽  
...  
Keyword(s):  
Skin Cancer ◽  
Cell Growth ◽  
Protein Tyrosine Phosphatase ◽  
Tyrosine Phosphatase ◽  
Organ Transplant ◽  
Growth Factor Receptor ◽  
Human Papillomaviruses ◽  
Keratinocyte Proliferation ◽  
Protein Tyrosine ◽  
Increased Risk

Human papillomaviruses (HPV) replicate their DNA in the suprabasal layer of the infected mucosa or skin. In order to create a suitable environment for vegetative viral DNA replication HPV delay differentiation and sustain keratinocyte proliferation that can lead to hyperplasia. The mechanism underlying cell growth stimulation is not well characterized. Here, we show that the E6 oncoprotein of the βHPV type 8 (HPV8), which infects the cutaneous skin and is associated with skin cancer in Epidermodysplasia verruciformis patients and immunosuppressed organ transplant recipients, binds to the protein tyrosine phosphatase H1 (PTPH1), which resulted in increased protein expression and phosphatase activity of PTPH1. Suppression of PTPH1 in immortalized keratinocytes reduced cell proliferation as well as the level of epidermal growth factor receptor (EGFR). Furthermore, we report that HPV8E6 expressing keratinocytes have increased level of active, GTP-bound Ras. This effect was independent of PTPH1. Therefore, HPV8E6-mediated targeting of PTPH1 might result in higher level of EGFR and enhanced keratinocyte proliferation. The HPV8E6-mediated stimulation of Ras may be an additional step to induce cell growth. Our results provide novel insights into the mechanism how βHPVE6 proteins support proliferation of infected keratinocytes, thus creating an environment with increased risk of development of skin cancer particularly upon UV-induced DNA mutations.

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