scholarly journals G-1639A but Not C1173TVKORC1Gene Polymorphism Is Related to Ischemic Stroke and Its Various Risk Factors in Ukrainian Population

2016 ◽  
Vol 2016 ◽  
pp. 1-10 ◽  
Author(s):  
Yevhen I. Dubovyk ◽  
Viktoriia Yu. Harbuzova ◽  
Alexander V. Ataman
Keyword(s):  
Ischemic Stroke ◽  
Vitamin K ◽  
Protective Factor ◽  
Smoking Status ◽  
Transmembrane Protein ◽  
Polymorphism Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Pcr Rflp

Vitamin K epoxide reductase complex subunit 1 (VKORC1) is integral 163-amino acid long transmembrane protein which mediates recycling of vitamin K 2,3-epoxide to vitamin K hydroquinone and it is necessary for activation of vitamin K-dependent proteins (VKDPs). Herein, the association between G-1639A (rs9923231) and C1173T (rs9934438) single-nucleotide polymorphisms (SNPs) of theVKORC1gene and ischemic stroke (IS) was tested in Ukrainian population. Genotyping was performed in 170 IS patients and 124 control subjects (total 294 DNA samples) using PCR-RFLP (polymerase chain reaction with following restriction fragment length polymorphism analysis) method. Our data showed that G-1639A but not C1173T polymorphism was related to IS, regardless of adjustment for age, sex, body mass index, smoking status, and arterial hypertension. The risk for IS in -1639A allele carriers (OR = 2.138,P=0.015) was higher than in individuals with G/G genotype. Haplotype analysis demonstrated that -1639G/1173T and -1639A/1173C were related to increased risk for IS (OR = 3.813,P=0.010,and OR = 2.189,P=0.011, resp.), while -1639G/1173C was a protective factor for IS (OR = 0.548,P<0.001). Obtained results suggested that -1639A allele can be a possible genetic risk factor for IS in Ukrainian population.

scholarly journals A genetic variant in the promoter of lncRNA MALAT1 is related to susceptibility of ischemic stroke

2020 ◽  
Author(s):  
Yan Wang ◽  
Xi-Xi Gu ◽  
Hua-Tuo Huang ◽  
Chun-Hong Liu ◽  
Ye-Sheng Wei
Keyword(s):  
Ischemic Stroke ◽  
Lung Adenocarcinoma ◽  
Protective Factor ◽  
Impact Factors ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Apo B ◽  
Increased Risk ◽  
Lncrna Malat1 ◽  
Apoptosis And Inflammation

Abstract Background: Metastasis-associated lung adenocarcinoma transcript-1 ( MALAT1 ) was aberrantly expressed in diverse diseases. Particularly in ischemic stroke (IS), the abnormal expression of MALAT1 played important roles including promotion of angiogenesis, inhibition of apoptosis and inflammation and regulation of autophagy. However, the effects of genetic variation (single nucleotide polymorphisms, SNPs) of MALAT1 on IS have rarely been explored. This study aimed to investigate whether SNPs in promoter of MALAT1 were associated with the susceptibility to IS. Methods: A total of 316 IS patients and 320 age-, gender-, and ethnicity-matched controls were enrolled in this study. Four polymorphisms in the promoter of MALAT1 (i.e., rs600231, rs1194338, rs4102217, and rs591291) were genotyped by using a custom-by-design 48-Plex SNPscan kit. Results: The rs1194338 C>A variant in the promoter of MALAT1 was associated with the risk of IS (AC vs. CC: adjusted OR = 0.623, 95% CI, 0.417-0.932, P = 0.021; AA vs. CC: adjusted OR = 0.474, 95% CI, 0.226-0.991, P = 0.047; Dominant model: adjusted OR = 0.596, 95% CI, 0.406-0.874, P = 0.008; A vs. C adjusted OR = 0.658, 95% CI, 0.487-0.890, P = 0.007). The haplotype analysis showed that rs600231-rs1194338-rs4102217-rs591291 (A-C-G-C) had a 1.3-fold increased risk of IS (95% CI, 1.029-1.644, P = 0.027). Logistic regression analysis identified some independent impact factors for IS including rs1194338 AC/AA, TC, TG, HDL-C, LDL-C, Apo-A1, Apo-B and NEFA ( P < 0.05). Conclusions: These results suggest that the rs1194338 AC/AA genotypes may be a protective factor for IS. Keywords: Ischemic stroke, Polymorphism, Metastasis associated lung adenocarcinoma transcript 1

scholarly journals RAD51 and XRCC3 Polymorphisms Are Associated with Increased Risk of Prostate Cancer

2019 ◽  
Vol 2019 ◽  
pp. 1-8 ◽  
Author(s):  
Maria Nowacka-Zawisza ◽  
Agata Raszkiewicz ◽  
Tomasz Kwasiborski ◽  
Ewa Forma ◽  
Magdalena Bryś ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Dna Repair ◽  
Strand Break ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Dna Double Strand Break ◽  
Repair Efficiency ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Repair Genes

Genetic polymorphisms in DNA repair genes may affect DNA repair efficiency and may contribute to the risk of developing cancer. The aim of our study was to investigate single nucleotide polymorphisms (SNPs) in RAD51 (rs2619679, rs2928140, and rs5030789) and XRCC3 (rs1799796) involved in DNA double-strand break repair and their relationship to prostate cancer. The study group included 99 men diagnosed with prostate cancer and 205 cancer-free controls. SNP genotyping was performed using the PCR-RFLP method. A significant association was detected between RAD51 rs5030789 polymorphism and XRCC3 rs1799796 polymorphism and an increased risk of prostate cancer. Our results indicate that RAD51 and XRCC3 polymorphism may contribute to prostate cancer.

scholarly journals The conserved autoimmune-disease risk gene TMEM39A regulates lysosome dynamics

2021 ◽  
Vol 118 (6) ◽  
pp. e2011379118
Author(s):  
Shuo Luo ◽  
Xin Wang ◽  
Meirong Bai ◽  
Wei Jiang ◽  
Zhe Zhang ◽  
...  
Keyword(s):  
Autoimmune Diseases ◽  
Mammalian Cells ◽  
Disease Risk ◽  
Transmembrane Protein ◽  
Cell Periphery ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
C Elegans ◽  
Increased Risk ◽  
Evolutionarily Conserved

TMEM39A encodes an evolutionarily conserved transmembrane protein and carries single-nucleotide polymorphisms associated with increased risk of major human autoimmune diseases, including multiple sclerosis. The exact cellular function of TMEM39A remains not well understood. Here, we report that TMEM-39, the sole Caenorhabditis elegans (C. elegans) ortholog of TMEM39A, regulates lysosome distribution and accumulation. Elimination of tmem-39 leads to lysosome tubularization and reduced lysosome mobility, as well as accumulation of the lysosome-associated membrane protein LMP-1. In mammalian cells, loss of TMEM39A leads to redistribution of lysosomes from the perinuclear region to cell periphery. Mechanistically, TMEM39A interacts with the dynein intermediate light chain DYNC1I2 to maintain proper lysosome distribution. Deficiency of tmem-39 or the DYNC1I2 homolog in C. elegans impairs mTOR signaling and activates the downstream TFEB-like transcription factor HLH-30. We propose evolutionarily conserved roles of TMEM39 family proteins in regulating lysosome distribution and lysosome-associated signaling, dysfunction of which in humans may underlie aspects of autoimmune diseases.

scholarly journals Genetic variants in CYP4F2 were significantly correlated with susceptibility to ischemic stroke

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Yuan Wu ◽  
Junjie Zhao ◽  
Yonglin Zhao ◽  
Tingqin Huang ◽  
Xudong Ma ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Chi Squared ◽  
Cytochrome P450 Family ◽  
Stratified Analysis ◽  
Control Study

Abstract Background Ischemic stroke (IS) is a serious cardiovascular disease and is associated with several single nucleotide polymorphisms (SNPs). However, the role of Cytochrome P450 family 4 subfamily F member 2 (CYP4F2) gene in IS remains unknown. Our study aimed to explore whether CYP4F2 polymorphisms influenced IS risk in the Han Chinese population. Methods We selected 477 patients and 495 controls to do a case-control study, and five SNPs in CYP4F2 gene were successfully genotyped. And we evaluated the associations using the Chi-squared test, independent sample t test, and genetic models analyses. Logistic regression analysis was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs). Results In this study, rs12459936 and rs3093144 were associated with IS risk in the overall. After stratified analysis by age (> 61 years), rs3093193 and rs3093144 were related to an increased risk of IS, whereas rs12459936 was related to a decreased risk of IS. In addition, we found that three SNPs (rs3093193, rs3093144 and rs12459936) were associated with the susceptibility to IS in males. We also found five SNPs in the CYP4F2 gene had strong linkage. Conclusions Three SNPs (rs3093193, rs3093144 and rs12459936) in the CYP4F2 were associated with IS risk in a Chinese Han population. And, CYP4F2 gene may be involved in the development of IS.

scholarly journals Association of Interleukin-8 with Cachexia from Patients with Low-Third Gastric Cancer

2009 ◽  
Vol 2009 ◽  
pp. 1-6 ◽  
Author(s):  
Bo Song ◽  
Dianliang Zhang ◽  
Shuchun Wang ◽  
Hongmei Zheng ◽  
Xinxiang Wang
Keyword(s):  
Gastric Cancer ◽  
Cancer Cachexia ◽  
Haplotype Analysis ◽  
Positive Association ◽  
Serum Levels ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Polymerase Chain

Background. Interleukin (IL)-8 has been implicated in the development of cancer cachexia. The polymorphism of IL-8 gene, which may affect the production level of IL-8, may be associated with cancer cachexia.Methods. The serum IL-8 level in our study was examined by radioimmunoassay. We also analyzed single nucleotide polymorphisms (SNPs) −251 A/T and +781 C/T of IL-8 gene, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).Results. The serum levels of IL-8 were significantly elevated in patients with low-third gastric cancer compared with controls, and were further up-regulated in patients with cachexia than those without (Z=−3.134,P=.002). A significantly increased frequency of +781 T allele was noted in patients with cachexia (OR=2.247, 95% CI: 1.351–3.737,P=.002). The +781 TT genotype was observed to be associated with a significantly increased risk of cachexia (OR=3.167, 95% CI: 1.265–7.929,P=.011), and with odds ratio of 3.033 (95% CI: 1.065–8.639,P=.038) for cachexia after adjusting for potential confounding factors. Meanwhile, haplotype analysis indicated a borderline positive association betweenT251T781haplotype and cachexia as compared with theT251C781haplotype (OR=4.92, 95% CI: 1.00–24.28;,P=.053).Conclusions. IL-8 appears to be associated with cachexia from patients with low-third gastric cancer.

scholarly journals An Association between Single Nucleotide Polymorphisms of Lys751GlnERCC2Gene and Ovarian Cancer in Polish Women

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Magdalena M. Michalska ◽  
Dariusz Samulak ◽  
Hanna Romanowicz ◽  
Maciej Sobkowski ◽  
Beata Smolarz
Keyword(s):  
Ovarian Cancer ◽  
Gene Polymorphism ◽  
Fragment Length Polymorphism ◽  
Nucleotide Polymorphisms ◽  
Histological Grading ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Lys751gln Polymorphism

Aim.The aim of this study was to evaluate the role of the Lys751Gln (rs13181)ERCC2gene polymorphism in clinical parameters and the risk for development of ovarian cancer.Material and Methods.The study consisted of 430 patients with ovarian cancer (mean age: 53.2 ± 10.11) and 430 healthy subjects (mean age: 50.31 ± 18.21). Analysis of the gene polymorphisms was performed using the PCR-based restriction fragment length polymorphism (PCR-RFLP). The odds ratios (ORs) and 95% confidence intervals (CIs) for each genotype and allele were calculated.Results.The results obtained indicate that the genotype Gln/Gln is associated with an increased risk of ovarian cancer (OR 5.01; 95% CI 3.37–7.43;p<0.0001). Association of Lys751Gln polymorphism with histological grading showed increasedERCC2Gln/Gln (OR = 6.96; 95% CI 3.41–14.21;p<0.0001) genotype in grading 1 as well as Gln allele overrepresentation (OR = 4.98; 95% CI 3.37–7.40;p<0.0001) in G1 ovarian patients. Finally, with clinical FIGO staging under evaluation, an increase inERCC2Gln/Gln homozygote frequencies in staging I and Gln allele frequencies in SI were observed.Conclusion.On the basis of these results, we conclude thatERCC2gene polymorphism Lys751Gln may be associated with an increased risk of ovarian carcinoma.

scholarly journals PADI4 Polymorphisms Confer Risk of Anti-CCP-Positive Rheumatoid Arthritis in Synergy With HLA-DRB1*04 and Smoking

2021 ◽  
Vol 12 ◽  
Author(s):  
Laura Massarenti ◽  
Christian Enevold ◽  
Dres Damgaard ◽  
Niels Ødum ◽  
Peter Garred ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Smoking Status ◽  
Nucleotide Polymorphisms ◽  
Regression Analyses ◽  
Post Translational Modification ◽  
Pathogenic Role ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Citrullinated Protein ◽  
Reduced Risk

Peptidylarginine deiminases (PADs) catalyze citrullination, a post-translational modification playing a pathogenic role in anti-citrullinated protein antibody (ACPA)-positive rheumatoid arthritis (RA). The interplay between single nucleotide polymorphisms (SNPs) in the PADI genes and known risk factors for ACPA-positive RA, including smoking, HLA-DR4 and -1, and the PTPN22 R620W polymorphism, was investigated. We typed four PADI2 SNPs, four PADI4 SNPs, and the PTPN22 R620W SNP in 445 Danish RA patients and 533 age-matched healthy controls, as well as in 200 North American RA patients and 100 age- and sex-matched controls. The HLA-DRB1 locus was typed in the Danish cohort. Logistic regression analyses, adjusted for age, sex, smoking status, and PTPN22 R620W, revealed increased risk of anti-CCP-positive RA in carriers of rs11203367(T) (OR: 1.22, p=0.03) and reduced risk in carriers of rs2240335(A) in PADI4 (OR: 0.82, p=0.04). rs74058715(T) in PADI4 conferred reduced risk of anti-CCP-negative RA (OR: 0.38, p=0.003). In HLA-DRB1*04-positive individuals, specifically, the risk of anti-CCP-positive RA was increased by carriage of PADI4 rs1748033(T) (OR: 1.54, p=0.007) and decreased by carriage of PADI4 rs74058715(T) (OR: 0.44, p=0.01), and we observed an interaction between these SNPs and HLA-DRB1*04 (p=0.004 and p=0.008, respectively) Thus, PADI4 polymorphisms associate with ACPA-positive RA, particularly in HLA-DRB1*04-positive individuals, and with ACPA-negative RA independently of HLA-DRB1*04.

scholarly journals A genetic variant rs13293512 in the promoter of let-7 is associated with an increased risk of breast cancer in Chinese women

2019 ◽  
Vol 39 (5) ◽  
Author(s):  
Ruifen Sun ◽  
Jianyu Gong ◽  
Ju Li ◽  
Zhiguo Ruan ◽  
Xiaomi Yang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Odds Ratio ◽  
Genetic Variant ◽  
Fragment Length Polymorphism ◽  
Chinese Women ◽  
Taqman Assay ◽  
Polymorphism Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk

Abstract Growing evidence has demonstrated that single-nucleotide polymorphisms (SNPs) in the promoter of miRNA may influence individuals’ susceptibility to human diseases. We examined two SNPs rs10877887 and rs13293512 in the promoters of let-7 family to determine if the two SNPs were related to the occurrence of breast cancer (BC). Genotyping of the two SNPs was performed by PCR and restriction fragment length polymorphism analysis or TaqMan assay in 301 BC patients and 310 age matched controls. We found a higher frequency of rs13293512 CC genotype and rs13293512 C allele amongst BC patients (CC vs TT: adjusted odds ratio (OR) = 1.78; 95% CI: 1.14–2.80; P=0.012; C vs T: adjusted OR = 1.33; 95% CI: 1.06–1.67; P=0.013). Stratification analysis showed that rs13293512 CC genotype was associated with an increased risk of BC in patients with negative estrogen receptor (adjusted OR = 2.39; 95% CI: 1.32–4.30; P=0.004), patients with negative progesterone receptor (adjusted OR = 1.92; 95% CI: 1.11–3.33; P=0.02), patients with T1-2 stage cancer (adjusted OR = 1.77; 95% CI: 1.07–2.93; P=0.03), and patients with N1-3 stage cancer (adjusted OR = 1.89; 95% CI: 1.13–3.17; P=0.015). These findings suggest that rs13293512 in the promoter of let-7a-1/let-7f-1/let-7d cluster may be a possible biomarker for the development of BC in Chinese women.

Phosphodiesterase 4D gene polymorphism is associated with ischaemic and haemorrhagic stroke

2009 ◽  
Vol 116 (4) ◽  
pp. 335-340 ◽  
Author(s):  
Hao Xue ◽  
Hu Wang ◽  
Xiaodong Song ◽  
Weiju Li ◽  
Kai Sun ◽  
...  
Keyword(s):  
Chinese Population ◽  
Haemorrhagic Stroke ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Gene Variation ◽  
Icelandic Population ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Phosphodiesterase 4D ◽  
Control Study

It has been reported that the variants of the PDE4D (phosphodiesterase 4D) gene are associated with stroke, especially with the combination of cardio-embolic and carotid stroke in the Icelandic population, but it is still very controversial as to whether PDE4D is a susceptible gene for stroke in other populations. In the present study, we tested whether the PDE4D gene variation also confers stroke risk in a Chinese population. Our hypothesis was tested in a case-control study of a Chinese population comprising 639 stroke patients (including 253 with cerebral thrombosis, 171 with lacunar infarction and 215 with intracerebral haemorrhage) and 887 healthy controls. Three SNPs (single nucleotide polymorphisms) (rs966221, rs456009 and rs2910829) in PDE4D were chosen based on the significant association with stroke reported previously in a Western population, and these were genotyped using PCR/RFLP (restriction-fragment-length polymorphism) and confirmed by sequencing. We found that only SNP83 (rs966221) was associated with stroke. Allele C of rs966221 is a risk allele, conferring an increased risk for atherothrombotic strokes [OR (odds ratio), 1.51; 95% CI (confidence interval), 1.09–2.10] independent of conventional risk factors. Haplotype analysis confirmed that haplotype G-C-C was associated with increased risk for atherothrombotic stroke (OR, 1.80; 95% CI, 1.300–2.491). Our findings support that SNP83 of PDE4D is a genetic risk factor for atherothrombotic strokes in a Chinese population.

scholarly journals Association between AXIN1 Gene Polymorphisms and Bladder Cancer in Chinese Han Population

2019 ◽  
Vol 2019 ◽  
pp. 1-8 ◽  
Author(s):  
Qin Li ◽  
Peng Zhang ◽  
Yanyun Wang ◽  
Yan Zhang ◽  
Kai Li ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
Gene Polymorphisms ◽  
Protective Factor ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Potential Association ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Poor Differentiation ◽  
Muscle Invasive

Background. Previous evidence has indicated that the reduction of axis inhibition protein 1 (AXIN1) expression is related with the poor differentiation of non-small-cell lung cancer (NSCLC). However, the potential association between AXIN1 and bladder cancer (BC) is unknown. We aimed to initially explore the relevance of AXIN1 gene polymorphisms (rs12921862 C/A, rs1805105 T/C, and rs370681 C/T) and BC. Methods. Three hundred and sixteen BC patients and 419 healthy controls had been enrolled. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for genotyping three tag single-nucleotide polymorphisms (SNPs) of AXIN1. The SNPstats online analysis software and SPSS software were used for statistical analysis. Results. Our data revealed that three tag SNPs were associated with an increased risk of BC (rs12921862: P<0.001, OR 95%CI=4.61 (3.13-6.81); rs1805105: P=0.046, OR 95%CI=1.35 (1.00-1.82); and rs370681: P=0.004, OR 95%CI=1.56 (1.15-2.10)). For rs12921862, A allele was an independently protective factor which correlated with a better prognosis in non-muscle-invasive bladder cancer (NMIBC) patients (P=0.03, OR 95%CI=0.10 (0.01-0.84)). Stratification analysis demonstrated that rs370681 polymorphism was related with high-grade bladder cancer (P=0.04, OR 95%CI=1.85 (1.04-3.23)). Conclusion. The AXIN1 gene polymorphisms might implicate in BC risk, and rs12921862 could be a potential forecasting factor for prognosis of BC patients.

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