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 A functional SNP in miR-625-5p binding site of AKT2 3'UTR is associated with noise-induced hearing loss susceptibility in the Chinese population

2021 ◽  
Author(s):  
Long Miao ◽  
Boshen Wang ◽  
Juan Zhang ◽  
Lihong Yin ◽  
Yuepu Pu
Keyword(s):  
Hearing Loss ◽  
Binding Site ◽  
Binding Affinity ◽  
Chinese Population ◽  
Noise Exposure ◽  
Luciferase Reporter ◽  
Exposure Level ◽  
Noise Induced Hearing Loss ◽  
Potential Biomarker ◽  
Increased Risk

Abstract This study aimed to explore the association of several single nucleotide polymorphisms (SNPs) within the AKT2 gene and noise-induced hearing loss (NIHL) susceptibility and explore the potential mechanism underlying NIHL. Three SNPs (rs2304186, rs41275750 and rs76524493) were genotyped in a Chinese population which consists of 690 NIHL patients and 650 normal hearing controls. Bioinformatic analysis was conducted to predict the potential miRNA-binding site of SNPs. Cell transfection and dual-luciferase reporter assay were performed to investigate the potential molecular mechanism of SNPs involved in NIHL. The results revealed rs2304186 GT genotype (OR = 1.41; 95% CI = 1.09–1.83) and TT genotype (OR = 1.51; 95% CI = 1.08–2.10) imparted increased risk of NIHL, and the increased risk could also be found in a dominant model (OR = 1.44; 95% CI = 1.12–1.84). The stratification analysis showed that rs2304186 GT/TT conferred a higher risk for NIHL, especially in subgroups of male, age (35–45 and > 45 years), noise exposure time (> 16 years), and noise exposure level (≤ 85 and ≥ 92 dB), compared with GG genotype. In addition, the haplotype TCCTACT (rs2304186-rs41275750-rs76524493) was associated with NIHL risk (OR = 1.19; 95% CI = 1.02–1.40). Rs2304186 G allele combined with hsa-miR-625-5p mimics could significantly decrease the luciferase activity compared with T allele, indicating rs2304186 altered the binding affinity of hsa-miR-625-5p to SNP rs2304186 mutation region, thus directly targeting AKT2. In conclusion, our study provides evidence for the first time that SNP rs2304186 of AKT2 3′UTR affects NIHL susceptibility by affecting the binding affinity of has-miR-625-5p in an allele-specific manner and it may act as a potential biomarker of NIHL susceptibility.

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 Single-nucleotide polymorphism rs17548629 in RIPK1 gene may be associated with lung cancer in a young and middle-aged Han Chinese population

2020 ◽  
Author(s):  
Shimin Yang ◽  
Fanglin Yu ◽  
Mingyan Lin ◽  
Linyi Sun ◽  
Junjie Wei ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Chinese Population ◽  
Han Chinese ◽  
Luciferase Reporter ◽  
Transcriptional Level ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Han Chinese Population ◽  
Increased Risk

Abstract Background Genetic biomarkers of lung cancer (LC) susceptibility may provide a basis for treatment and prevention. This study analyzed an association between SNPs (single nucleotide polymorphisms) in the complementary region of the 3′-UTR (3' untranslated region) of microRNAs of the gene RIPK1 (receptor-interacting serine/threonine-protein kinase 1) and LC among an adult Han Chinese population aged younger than 60 years. Also explored the effect of regulation of the RIPK1 gene via rs17548629 and microRNA-1197 on the occurrence of LC. Methods RIPK1 variants (rs17548629, rs77736895) were determined in a population of 571 adults (younger than 60 years) with LC, and 609 gender- and age-matched healthy individuals. Bioinformatics methods predicted the microRNAs bound to rs17548629. Dual luciferase reporter assay was performed to confirm the presence of both rs17548629 and the predicted microRNA. Results A mutation (T) of rs17548629 was associated with an increased risk for LC in this population under the codominant and recessive genetic models. The risk of lung adenocarcinoma in rs17548629 mutant carriers was 1.769-fold higher than that of the wildtype. In vitro , the luciferase activity of co-transfected mutant psiCHECK2- RIPK1 and microRNA-1197 mimics was less than that of the group transfected with microRNA-1197 mimics only. Factorial analysis indicated interactions between microRNA-1197 mimics and genotypes of rs17548629. Conclusion A mutation (T) of rs17548629 may increase the risk of LC/lung adenocarcinomain adult Han populations younger than 60 years. When carrying the T allele, rs17548629 may be the target of hsa-miR-1197. This mutation may affect transcriptional level of the RIPK1, thereby promoting the occurrence of LC.

scholarly journals Single-nucleotide polymorphism rs17548629 in RIPK1 gene may be associated with lung cancer in a young and middle-aged Han Chinese population

2020 ◽  
Author(s):  
Shimin Yang ◽  
Fanglin Yu ◽  
Mingyan Lin ◽  
Linyi Sun ◽  
Junjie Wei ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Chinese Population ◽  
Han Chinese ◽  
Luciferase Reporter ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Han Chinese Population ◽  
Treatment And Prevention ◽  
Increased Risk

Abstract Background Genetic biomarkers of lung cancer (LC) susceptibility may provide a basis for treatment and prevention. This study analyzed an association between SNPs (single nucleotide polymorphisms) in the complementary region of the 3′-UTR (3' untranslated region) of microRNAs of the gene RIPK1 (receptor-interacting serine/threonine-protein kinase 1) and LC among an adult Han Chinese population aged younger than 60 years. Also explored the effect of regulation of the RIPK1 gene via rs17548629 and microRNA-1197 on the occurrence of LC. Methods RIPK1 variants (rs17548629, rs77736895) were determined in a population of 571 adults (younger than 60 years) with LC, and 609 gender- and age-matched healthy individuals. Bioinformatics methods predicted the microRNAs bound to rs17548629. Dual luciferase reporter assay was performed to confirm the presence of both rs17548629 and the predicted microRNA. Results A mutation (T) of rs17548629 was associated with an increased risk for LC in this population under the codominant and recessive genetic models. The risk of lung adenocarcinoma in rs17548629 mutant carriers was 1.769-fold higher than that of the wildtype. In vitro , the luciferase activity of co-transfected mutant psiCHECK2- RIPK1 and microRNA-1197 mimics was less than that of the group transfected with microRNA-1197 mimics only. Factorial analysis indicated interactions between microRNA-1197 mimics and genotypes of rs17548629. Conclusion A mutation (T) of rs17548629 may increase the risk of LC/lung adenocarcinomain adult Han populations younger than 60 years. When carrying the T allele, rs17548629 may be the target of hsa-miR-1197. This mutation may affect levels of RIPK1 protein, thereby promoting the occurrence of LC.

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 Genetic Variants in KIR/HLA-C Genes Are Associated With the Susceptibility to HCV Infection in a High-Risk Chinese Population

2021 ◽  
Vol 12 ◽  
Author(s):  
Chao Shen ◽  
Zhijun Ge ◽  
Chen Dong ◽  
Chunhui Wang ◽  
Jianguo Shao ◽  
...  
Keyword(s):  
High Risk ◽  
Chinese Population ◽  
Drug Users ◽  
Hcv Infection ◽  
Taqman Assay ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Risk Alleles ◽  
Increased Risk ◽  
Control Study

BackgroundKIR/HLA-C signaling pathway influences the innate immune response which is the first defense to hepatitis C virus (HCV) infection. The aim of this study was to determine the association between the genetic polymorphisms of KIR/HLA-C genes and the outcomes of HCV infection in a high-risk Chinese population.MethodsIn this case-control study, four single nucleotide polymorphisms (SNPs) of KIR/HLA-C genes (KIR2DS4/KIR2DS1/KIR2DL1 rs35440472, HLA-C rs2308557, HLA-C rs1130838, and HLA-C rs2524094) were genotyped by TaqMan assay among drug users and hemodialysis (HD) patients including 1,378 uninfected control cases, 307 subjects with spontaneous viral clearance, and 217 patients with persistent HCV infection. Bioinformatics analysis was used to functionally annotate the SNPs.ResultsAfter logistic regression analysis, the rs35440472-A and rs1130838-A alleles were found to be associated with a significantly elevated risk of HCV infection (OR = 1.562, 95% CI: 1.229–1.987, P < 0.001; OR = 2.134, 95% CI: 1.180–3.858, P = 0.012, respectively), which remained significant after Bonferroni correction (0.05/4). The combined effect of their risk alleles and risk genotypes (rs35440472-AA and rs1130838-AA) were linked to the increased risk of HCV infection in a locus-dosage manner (all Ptrend < 0.001). Based on the SNPinfo web server, rs35440472 was predicted to be a transcription factor binding site (TFBS) while rs1130838 was predicted to have a splicing (ESE or ESS) function.ConclusionKIR2DS4/KIR2DS1/KIR2DL1 rs35440472-A and HLA-C rs1130838-A variants are associated with increased susceptibility to HCV infection in a high-risk Chinese population.

scholarly journals Role of CASP7 polymorphisms in noise-induced hearing loss risk in Han Chinese population

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Yanmei Ruan ◽  
Jinwei Zhang ◽  
Shiqi Mai ◽  
Wenfeng Zeng ◽  
Lili Huang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Chinese Population ◽  
Conditional Logistic Regression ◽  
Han Chinese ◽  
Control Group ◽  
Environment Interaction ◽  
Noise Induced Hearing Loss ◽  
Han Chinese Population ◽  
Hearing Thresholds ◽  
Increased Risk

AbstractGenetic factors and gene-environment interaction may play an important role in the development of noise induced hearing loss (NIHL). 191 cases and 191 controls were selected by case–control study. Among them, case groups were screened from workers exposed to noise in binaural high-frequency hearing thresholds greater than 25 dB (A). Workers with hearing thresholds ≤ 25 dB (A) in any binaural frequency band were selected to the control group, based on matching factors such as age, exposure time to noise, and operating position. The blood samples from two groups of workers were subjected to DNA extraction and SNP sequencing of CASP3 and CASP7 genes using the polymerase chain reaction ligase detection reaction method. Conditional logistic regression correction was used to analyze the genetic variation associated with susceptibility to NIHL. There was an association between rs2227310 and rs4353229 of the CASP7 gene and the risk of NIHL. Compared with the GG genotype, the CC genotype of rs2227310 reduced the risk of NIHL. Compared with CC genotype, the TT genotype of rs4353229 reduced the risk of NIHL. Workers carrying the rs2227310GG and rs4353229CC genotype had an increased risk of NIHL compared to workers without any high-risk genotype. There were additive interaction and multiplication interaction between CASP7rs2227310 and CNE, and the same interaction between CASP7rs4353229 and CNE. The interaction between the CASP7 gene and CNE significantly increased the risk of NIHL. The genetic polymorphisms of CASP7rs2227310GG and CASP7rs4353229CC were associated with an increased risk of NIHL in Han Chinese population and have the potential to act as biomarkers for noise-exposed workers.

scholarly journals Associations of Genetic Variation in Glyceraldehyde 3-Phosphate Dehydrogenase Gene with Noise-Induced Hearing Loss in a Chinese Population: A Case-Control Study

2020 ◽  
Vol 17 (8) ◽  
pp. 2899 ◽  
Author(s):  
Liu Wan ◽  
Boshen Wang ◽  
Juan Zhang ◽  
Baoli Zhu ◽  
Yuepu Pu
Keyword(s):  
Hearing Loss ◽  
Genetic Variation ◽  
Chinese Population ◽  
Case Control Study ◽  
Quantitative Polymerase Chain Reaction ◽  
Case Control ◽  
Control Group ◽  
Case Group ◽  
Noise Induced Hearing Loss ◽  
Control Study

Objective: The purpose of this paper was to clarify the association between genetic variation in the glyceraldehyde 3-phosphate dehydrogenase (GAPDH) gene and the risk of noise-induced hearing loss (NIHL). Methods: A case-control study (633 cases and 625 controls) was conducted in this study. Logistic regression was used to analyze the relationships between environmental and individual factors and NIHL. Gene expression levels were compared among each GAPDH rs6489721 genotype and between the case and control groups based on real-time fluorescence quantitative Polymerase Chain Reaction (PCR). Results: The T allele of GADPH rs6489721 was significantly associated with NIHL (odds ratio (OR) = 1.262, 95% confidence interval (CI) (1.066, 1.493), p = 0.006) and showed strong associations in the codominant and dominant models (TT vs. CC: OR = 1.586, 95% CI (1.131, 2.225), p = 0.008; TT vs. TC/CC: OR = 1.391, 95% CI (1.073, 1.804), p = 0.013). The expression level of the TT genotype was significantly higher than that of the CC genotype (p = 0.012), and the expression of the case group was also higher than that of the control group (p = 0.013). Conclusions: The homozygous risk allele (TT) of rs6489721 was associated with an enhanced GAPDH expression, resulting in the development of NIHL in a Chinese population.

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