scholarly journals Association of IL1R1 Coding Variant With Plasma-Level Soluble ST2 and Risk of Aortic Dissection

2021 ◽  
Vol 8 ◽  
Author(s):  
Wenxi Jiang ◽  
Xue Wang ◽  
Pei Gao ◽  
Fengjuan Li ◽  
Ke Lu ◽  
...  
Keyword(s):  
Aortic Dissection ◽  
Acute Onset ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Soluble St2 ◽  
Increased Risk ◽  
Discovery Stage ◽  
Two Stages ◽  
Validation Stage ◽  
Control Study

Objective: Aortic dissection (AD) is characterized by an acute onset, rapid progress, and high mortality. Levels of soluble ST2 (sST2) on presentation are elevated in patients with acute AD, which can be used to discriminate AD patients from patients with chest pain. sST2 concentrations were found to be highly heritable in the general population. The aim of this study was to investigate the associations of variations in ST2-related gene expression with sST2 concentrations and AD risk.Methods: This case-control study involving a total of 2,277 participants were conducted, including 435 AD patients and age- and sex-matched 435 controls in the discovery stage, and 464 patients and 943 controls in the validation stage. Eight ST2-related genes were selected by systematic review. Tag single-nucleotide polymorphisms (SNPs) were screened out from the Chinese population of the 1,000 Genomes Database. Twenty-one ST2-related SNPs were genotyped, and plasma sST2 concentrations were measured.Results: In the discovery stage, rs13019803 located in IL1R1 was significantly associated with AD after Bonferroni correction (p = 0.0009) and was correlated with circulating sST2 levels in patients with type A AD(AAD) [log-sST2 per C allele increased by 0.180 (95%) CI: 0.002 – 0.357] but not in type B. Combining the two stages together, rs13019803C was associated with plasma sST2 level in AAD patients [log-sST2 increased by 0.141 (95% CI: 0.055–0.227) for per C allele]. Odds ratio of rs13019803 on the risk of AAD is 1.67 (95% CI: 1.33–2.09).Conclusions: The IL1R1 SNP rs13019803C is associated with higher sST2 levels and increased risk of AAD.

scholarly journals Relationship between the IL23R SNPs and Crohn’s Disease Susceptibility and Phenotype in the Polish and Bosnian Populations: A Case-Control Study

2019 ◽  
Vol 16 (9) ◽  
pp. 1551
Author(s):  
Krzysztof Borecki ◽  
Iwona Zawada ◽  
Nermin Nusret Salkić ◽  
Beata Karakiewicz ◽  
Grażyna Adler
Keyword(s):  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Case Control Study ◽  
Age Of Onset ◽  
Severe Disease ◽  
Polish Population ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Control Study

It is suggested that IL-23/IL-17 axis and single nucleotide polymorphisms (SNPs) of IL23R may have crucial role in pathogenesis of Crohn’s disease (CD). Thus, we sought to assess the IL23R SNPs contribution to susceptibility and phenotype of CD. We recruited 117 CD subjects and 117 controls from Poland and 30 CD subjects and 30 controls from Bosnia and Herzegovina (B&H). Two common IL23R SNPs: rs1004819, rs7517847 were genotyped using TaqMan SNP assays. In the Polish population it was found that allele rs1004819: A increases the risk of CD, while allele rs7517847: A is protective against disease development. In Poles the co-carriage of two IL23R risk genotypes was associated with increased risk of CD. A significantly increased risk of CD early onset was observed in Poles carrying at least one rs7517847: G allele. It was also found that IL23R SNPs may be associated with structuring/penetrating CD behavior, as alleles rs1004819: A and rs7517847: G were significantly less frequent in patients without complications, from Poland and B&H, respectively. Allele rs1004819: A was also significantly more frequent in Poles with penetrating CD. These results confirm IL23R SNPs contribution to CD susceptibility in the Polish population and suggest their impact on early age of onset and more severe disease course.

scholarly journals Single-Nucleotide Polymorphisms in XPO5 are Associated with Noise-Induced Hearing Loss in a Chinese Population

2020 ◽  
Vol 2020 ◽  
pp. 1-10 ◽  
Author(s):  
Ning Wang ◽  
Boshen Wang ◽  
Jiadi Guo ◽  
Suhao Zhang ◽  
Lei Han ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Chinese Population ◽  
Luciferase Reporter ◽  
Noise Induced Hearing Loss ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Control Study ◽  
Dual Luciferase Reporter Assay

Objectives.The purpose of this study was to investigate the correlation between single-nucleotide polymorphism (SNP) in 3′UTR of XPO5 gene and the occurrence of noise-induced hearing loss (NIHL), and to further explore the regulatory mechanism of miRNAs in NIHL on XPO5 gene. Methods.We conducted a case-control study involving 1040 cases and 1060 controls. The effects of SNPs on XPO5 expression were studied by genotyping, real-time polymerase chain reaction (qPCR), cell transfection, and the dual-luciferase reporter assay. Results.We genotyped four SNPs (rs2257082, rs11077, rs7755135, and rs1106841) in the XPO5 gene. The rs2257082 AG/GG carriers have special connection to an increased risk of noise-induced hearing loss compared to the AA carriers. The rs11077TG/GG carriers had a significantly increased association with NIHL susceptibility than the TT carriers. There was a higher risk of NIHL in the XPO5 gene rs7755135 CC carriers than in the TT carriers. No statistically significant correlation was obtained with respect to SNPrs1106841. Functional experiments showed that the rs11077 change might inhibit the interaction between miRNAs (miRNA-4763-5p, miRNA-5002-3p, and miRNA-617) and XPO5, with rs11077G allele resulting in overexpression of XPO5. Conclusion. The genetic polymorphism, rs11077, within XPO5 is associated with the risk of noise-induced hearing loss in a Chinese population.

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 A miR-182 variant and risk of hepatocellular carcinoma in a southern Chinese population

2020 ◽  
Vol 14 (1) ◽  
Author(s):  
Moqin Qiu ◽  
Yingchun Liu ◽  
Qiuling Lin ◽  
Zihan Zhou ◽  
Yanji Jiang ◽  
...  
Keyword(s):  
Chinese Population ◽  
Regulation Of Gene Expression ◽  
Nucleotide Polymorphisms ◽  
Older Individuals ◽  
Single Nucleotide ◽  
Southern Chinese ◽  
Increased Risk ◽  
Stratified Analysis ◽  
Larger Sample ◽  
Control Study

Abstract MicroRNAs (miRNAs) play important roles in the regulation of gene expression at the posttranscriptional level and are involved in human carcinogenesis. The aim of the current study was to investigate the associations between miR-182 single nucleotide polymorphisms and HCC risk in a southern Chinese population. In this case-control study of 863 HCC patients and 908 cancer-free controls, we performed genotyping of miR-182 rs4541843 and assessed its association with HCC risk. We found that individuals carrying the AG/AA genotypes of miR-182 rs4541843 were significantly associated with an increased risk of HCC compared with those carrying the GG genotype (adjusted odds ratio (OR) = 1.71, 95% confidence interval (CI) = 1.07–2.76, P = 0.026). In the stratified analysis, this increased risk was more pronounced in the subgroups of older individuals (adjusted OR = 1.98, 95% CI = 1.04–3.76, P = 0.037), males (adjusted OR = 1.81, 95% CI = 1.09–2.99, P = 0.021), and never drinkers (adjusted OR = 1.84, 95% CI = 1.03–3.30, P = 0.041). Our results suggested that miR-182 polymorphism rs4541843 may contribute to the susceptibility to HCC. Our findings require validation in further studies with larger sample sizes.

scholarly journals Associations of Genetic Variants of miRNA Coding Regions With Pulmonary Tuberculosis Risk in China

2021 ◽  
Author(s):  
Mingwu Zhang ◽  
Zhengwei Liu ◽  
Yelei Zhu ◽  
SongHua Chen ◽  
Bin Chen ◽  
...  
Keyword(s):  
Conditional Logistic Regression ◽  
Population Based ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Female Population ◽  
Online Tool ◽  
Coding Regions ◽  
Increased Risk ◽  
Control Study ◽  
Tuberculosis Risk

Abstract Background Tuberculosis (TB) is the leading cause of death caused by single pathogenic microorganism of mycobacterium tuberculosis(MTB). The study aims to explore the associations of microRNA (miRNA) single nucleotide polymorphisms (SNPs) with pulmonary TB (PTB) risk. Methods A population-based case-control study was conducted, and 168 newly diagnosed smear-positive PTB cases and 251 non-TB controls were recruited. SNPs located within miR-27a (rs895819), miR-423 (rs6505162), miR-196a-2 (rs11614913), miR-146a (rs2910164), miR-618 (rs2682818) were selected and MassARRAY® MALDI-TOF System was employed for genotyping. SPSS19.0 was adopted for statistical analysis, non-conditional logistic regression was performed. Odds ratios (ORs) and 95%confidence intervals (95%CIs) were computed to estimate the associations. Associations of haplotypes with PTB risk was performed with online tool. Results Rs895819 CT/CC genotype was associated with reduced PTB risk among female population (OR= 0.45, 95%CI: 0.23-0.98), p=0.045. Haplotypes (Combined with rs895819, rs2682818, rs2910164, rs6505162 and rs11614913) TCCCT, TAGCC, CCCCC, CCGCT and TCGAT were associated with reduced PTB risk and the ORs were 0.67 (95%CI: 0.45-0.99), 0.49 (0.25-0.94), 0.34 (95%CI: 0.14-0.81), 0.22 (95%CI: 0.06-0.84) and 0.24 (95%CI: 0.07-0.79)，respectively; while the haplotypes of TAGCT, CCCCT, CACCT and TCCAT were associated with increased PTB risk, and the ORs were 3.63 (95%CI: 1.54-8.55), 2.20 (95%CI: 1.00-4.86), 3.90 (95%CI: 1.47-10.36) and 2.95 (95%CI: 1.09-7.99), respectively. Conclusions Rs895819 CT/CC genotype was associated with reduced female PTB risk and haplotype TCCCT, TAGCC, CCCCC, CCGCT and TCGAT were associated with reduced PTB risk, while TAGCT, CCCCT, CACCT and TCCAT were associated with increased risk.

Contribution of hsa-miR-146a and hsa-miR-223 gene variations in patients with multiple sclerosis reveals association of rs2910164 and rs1044165 with risk of multiple sclerosis susceptibility

2021 ◽  
pp. jim-2020-001539
Author(s):  
Salar Shareef ◽  
Seyed Omar Ebrahimi ◽  
Somayeh Reiisi
Keyword(s):  
Multiple Sclerosis ◽  
Iranian Population ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Mirna Genes ◽  
Increased Risk ◽  
Non Coding Rnas ◽  
The Relationship ◽  
Control Study

MicroRNAs (miRNAs) are a group of non-coding RNAs that play a role in gene regulation. Due to their possible functional importance, genetic variants within miRNA genes have been recognized as candidate biomarkers. Single-nucleotide polymorphisms (SNPs) in miRNA genes can be related to the risk of different autoimmune diseases. Some of these SNPs are rs2910164 in the miR-146a and rs1044165 in the miR-223. The aim of this study was to investigate the relationship between these polymorphisms and the risk of multiple sclerosis (MS) in an Iranian population. In this case–control study, 261 patients with MS and 250 healthy controls that matched by age and geographical region were enrolled. After sampling and genomic DNA extraction, genotyping was determined by PCR–restriction fragment length polymorphism. Allelic and genotypic associations between the SNPs and MS were evaluated by the data analysis conducted by SPSS V.20. The frequencies of rs2910164 and rs1044165 SNPs were significantly different between the patients with MS and healthy controls. C and T alleles in the variants rs2910164 and rs1044165, respectively, are associated with increased risk of MS. Such association was obtained in codominant, dominant, and overdominant models for both variants (OR ~3 and OR ~1.5, respectively). Furthermore, this study determined that the C and T alleles of rs2910164 and rs1044165 are risk factors for MS in the Iranian population.

scholarly journals A Novel Polymorphism (rs35612982) in CDKAL1 Is a Risk Factor of Type 2 Diabetes: A Case-Control Study

2019 ◽  
Vol 44 (6) ◽  
pp. 1313-1326 ◽  
Author(s):  
Yanni Tian ◽  
Jing Xu ◽  
Ting Huang ◽  
Jiaqi Cui ◽  
Wei Zhang ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Case Control Study ◽  
Insulin Level ◽  
Northwest China ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk ◽  
The Status ◽  
Control Study

Background: The interaction of environmental factors and genetic factors may contribute to the risk of type 2 diabetes (T2D). We aimed to investigate whether age, gender, body mass index (BMI) and lifestyle factors have an effect on the association between the CDKAL1 polymorphisms and T2D. Methods: Eight single nucleotide polymorphisms in CDKAL1 were genotyped by Agena MassARRAY in 508 T2D patients and 503 controls. The association between the CDKAL1 polymorphisms and T2D was evaluated using logistic regression model by calculating OR and 95% CIs. Results: We found a significant association between CDKAL1 polymorphisms (rs4712523, OR 1.42, p = 9.44 × 10–5; rs4712524, OR 1.38, p = 3.28 × 10–4; rs10946398, OR 1.43, p = 6.21 × 10–5; rs7754840, OR 1.43, p = 6.33 × 10–5; rs35612982, OR 1.34, p = 0.0010; and rs10440833, OR 1.32, p = 0.0018) and T2D risk among the Han population from Northwest China. We also found that genetic variants of CDKAL1 could modify the risk of T2D that might be influenced by age, BMI and the status of smoking and drinking. Besides, rs35612982-CT (p = 0.038) and rs10440833-AT (p = 0.044) genotypes were higher insulin level. Conclusion: CDKAL1 rs35612982 (C/T) polymorphism, as a new polymorphism, was associated with the increased risk of T2D in the Han Chinese population. Moreover, the contribution of CDKAL1 polymorphisms to T2D risk seems to be associated with age, gender, BMI, smoking and drinking.

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 Variation at 8q24 and 9p24 and Risk of Epithelial Ovarian Cancer

2010 ◽  
Vol 13 (1) ◽  
pp. 43-56 ◽  
Author(s):  
Kristin L. White ◽  
Thomas A. Sellers ◽  
Brooke L. Fridley ◽  
Robert A. Vierkant ◽  
Catherine M. Phelan ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Nucleotide Polymorphisms ◽  
Gynecologic Malignancy ◽  
Single Nucleotide ◽  
Logistic Regression Models ◽  
Increased Risk ◽  
Illumina Goldengate ◽  
Chromosome 8Q24 ◽  
8Q24 Region ◽  
Control Study

AbstractThe chromosome 8q24 region (specifically, 8q24.21.a) is known to harbor variants associated with risk of breast, colorectal, prostate, and bladder cancers. In 2008, variants rs10505477 and rs6983267 in this region were associated with increased risk of invasive ovarian cancer (p < 0.01); however, three subsequent ovarian cancer reports of 8q24 variants were null. Here, we used a multi-site case-control study of 940 ovarian cancer cases and 1,041 controls to evaluate associations between these and other single-nucleotide polymorphisms (SNPs) in this 8q24 region, as well as in the 9p24 colorectal cancer associated-region (specifically, 9p24.1.b). A total of 35 SNPs from previous reports and additional tagging SNPs were assessed using an Illumina GoldenGate array and analyzed using logistic regression models, adjusting for population structure and other potential confounders. We observed no association between genotypes and risk of ovarian cancer considering all cases, invasive cases, or invasive serous cases. For example, at 8q24 SNPs rs10505477 and rs6983267, analyses yielded per-allele invasive cancer odds ratios of 0.95 (95% confidence interval (CI) 0.82–1.09, p trend 0.46) and 0.97 (95% CI 0.84–1.12, p trend 0.69), respectively. Analyses using an approach identical to that of the first positive 8q24 report also yielded no association with risk of ovarian cancer. In the 9p24 region, no SNPs were associated with risk of ovarian cancer overall or with invasive or invasive serous disease (all p values > 0.10). These results indicate that the SNPs studied here are not related to risk of this gynecologic malignancy and that the site-specific nature of 8q24.21.a associations may not include ovarian cancer.

Genetic variation in the fibrinogen gamma gene increases the risk for deep venous thrombosis by reducing plasma fibrinogen γ′ levels

Blood ◽  
2005 ◽  
Vol 106 (13) ◽  
pp. 4176-4183 ◽  
Author(s):  
Shirley Uitte de Willige ◽  
Marieke C. H. de Visser ◽  
Jeanine J. Houwing-Duistermaat ◽  
Frits R. Rosendaal ◽  
Hans L. Vos ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Deep Venous Thrombosis ◽  
Case Control Study ◽  
Population Based ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Thrombosis Risk ◽  
Increased Risk ◽  
Risk For Thrombosis ◽  
Control Study

We investigated the association between haplotypes of fibrinogen alpha (FGA), beta (FGB), and gamma (FGG), total fibrinogen levels, fibrinogen γ′ (γA/γ′ plus γ′/γ′) levels, and risk for deep venous thrombosis. In a population-based case-control study, the Leiden Thrombophilia Study, we typed 15 haplotype-tagging single nucleotide polymorphisms (htSNPs) in this gene cluster. None of these haplotypes was associated with total fibrinogen levels. In each gene, one haplotype increased the thrombosis risk approximately 2-fold. After adjustment for linkage disequilibrium between the genes, only FGG-H2 homozygosity remained associated with risk (odds ratio [OR], 2.4; 95% confidence interval [95% CI], 1.5-3.9). FGG-H2 was also associated with reduced fibrinogen γ′ levels and reduced ratios of fibrinogen γ′ to total fibrinogen. Multivariate analysis showed that reduced fibrinogen γ′ levels and elevated total fibrinogen levels were both associated with an increased risk for thrombosis, even after adjustment for FGG-H2. A reduced fibrinogen γ′ to total fibrinogen ratio (less than 0.69) also increased the risk (OR, 2.4; 95% CI, 1.7-3.5). We propose that FGG-H2 influences thrombosis risk through htSNP 10034C/T [rs2066865] by strengthening the consensus of a CstF site and thus favoring the formation of γA chain above that of γ′ chain. Fibrinogen γ′ contains a unique high-affinity, nonsubstrate binding site for thrombin, which seems critical for the expression of the antithrombin activity that develops during fibrin formation (antithrombin 1).

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