scholarly journals miR-372 (rs12983273) and LncRNA HULC (rs7763881) Genetic Polymorphisms and Susceptibility to Hepatitis B Virus (HBV) Infection

2021 ◽  
Author(s):  
roba talaat ◽  
Samar M. Shahen ◽  
Soha Z. Elshenawy ◽  
Salwa E. Mohamed
Keyword(s):  
Hbv Infection ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Significant Difference ◽  
B Virus ◽  
Risk Snps ◽  
Non Coding Rnas ◽  
Polymerase Chain

Abstract MicroRNAs (miRNAs) and Long non-coding RNAs (lncRNAs) are two major types of non-coding RNAs (ncRNAs) with regulatory roles. Genetic variation in the miRNAs and lncRNAs has been involved in the initiation and progression of many diseases. miRNA-LncRNA interactions are implicated in the regulation of many diseases, such as hepatitis infection. In this study, we assumed that single nucleotide polymorphisms (SNPs) in miR-372 (rs28461391 C/T) and HULC (rs7763881 A/C) might participate in HBV infection risk. SNPs rs28461391 in miR-372 and rs7763881 in HULC were genotyped in 100 HBV patients and 100 healthy controls using the Polymerase chain reaction sequence-specific primer technique (PCR-SSP). Our results showed no significant difference in miR-372 rs12983273 genotype distribution between both controls and HBV patients. On the other hand, there was a significant increase in HULC rs7763881 CC genotype (P<0.05) coincides with a significant decrease in AC genotype distribution (P<0.05) in HBV patients as compared to controls. Our results showed that the CC genotype is associated with an increased risk of HBV infection (OR= 3.43; CI: 1.3-9.07) while AA genotype is a protective one (OR= 0.3; CI: 0.13-9.07). Our results suggest that HULC rs7763881 A/C might be a biomarker for HBV susceptibility. However, larger sample studies are recommended to verify our preliminary data. To the best of our knowledge, the present study was the first to investigate the relevance of miR-372 (rs28461391 C/T) and HULC (rs7763881 A/C) gene polymorphisms to the risk of HBV infection in the Egyptian population.

scholarly journals Evaluation of PECAM-1 Gene Polymorphism in Patients with Periodontal Disease and Healthy Individuals

2012 ◽  
Vol 2012 ◽  
pp. 1-5
Author(s):  
Mahdi Kdkhodazadeh ◽  
Mehrdad Hajilooi ◽  
Behzad Houshmand ◽  
Sara Khazaei ◽  
Leila Gholami ◽  
...  
Keyword(s):  
Chronic Periodontitis ◽  
Aggressive Periodontitis ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Healthy Individuals ◽  
Single Nucleotide ◽  
Genotypic Distribution ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
Polymerase Chain

Objective. Our aim in this paper was to investigate the possible genetic association between three Ser563Asn, Leu125Val and Arg670Gly polymorphisms of the PECAM-1 gene and periodontitis. Methods. Genomic DNA was isolated from whole blood of 105 periodontal patient (52 with chronic periodontitis and 53 with aggressive periodontitis) and 101 healthy individuals. Samples were genotyped and analyzed for the three single-nucleotide polymorphisms (SNPs) of PECAM-1 using polymerase chain reaction with sequence-specific primers (PCR-SSPs). Results. A statistically significant difference was found between the genotypic distribution of the Ser563Asn polymorphism in patients with periodontitis compared to controls (P=0.02). But there were no statistically significant difference between the allele frequencies in the different groups (P=0.05). The other two polymorphisms did not show a statistically significant difference in their allele and genotype frequencies between the groups. There was no statistically significant difference found for any of the polymorphisms allele and genotype distribution in aggressive and chronic periodontitis either. Conclusions. No significant association was found between the polymorphism tested and the subgroups of periodontitis, further research is still necessary to determine whether this polymorphism can be used as a genetic marker of periodontitis.

The Nonsynonymous Single-Nucleotide Polymorphisms in Codon 31 of p21 Gene and the Susceptibility to Cervical Cancer in Chinese Women

2009 ◽  
Vol 19 (6) ◽  
pp. 1011-1014 ◽  
Author(s):  
Qifang Tian ◽  
Weiguo Lu ◽  
Huaizeng Chen ◽  
Feng Ye ◽  
Xing Xie
Keyword(s):  
Cervical Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Allele Frequency ◽  
Chinese Women ◽  
Host Susceptibility ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Significant Difference

Background:It was suggested that single-nucleotide polymorphisms in p21 codon 31 seem to be associated with a variety of human malignancies; very few studies have focused on the association between p21 codon 31 polymorphisms and cervical cancer. This study explored whether p21 codon 31 nonsynonymous single-nucleotide polymorphisms might be associated with an increased risk of cervical cancer development among Chinese women.Methods:Peripheral blood samples were obtained from patients with cervical cancer (n = 317) and healthy controls (n = 353) for detecting the biallelic polymorphisms at codon 31 of p21 gene by the mismatch amplification mutation assay-polymerase chain reaction. Cervix brush-off samples were obtained from patients with cervical squamous cell carcinoma (SCC) and controls for detection of high-risk human papillomavirus (HR-HPV).Results:The AGA (Arg) allele frequency in patients with cervical SCCs was significantly higher than that in controls. AGA/AGA and AGA/AGC genotypes were more frequently found in cervical SCCs than in controls. There was no significant difference of allele frequency or genotype distribution between cervical adenocarcinomas and controls, or between HR-HPV-positive and HR-HPV-negative groups.Conclusions:p21 Codon 31 with AGA (Arg) allele is a genetic risk factor of cervical SCC, and the increased risk is probably not caused by increasing host susceptibility to HR-HPV infection.

scholarly journals Association of the CACNA2D2 gene with schizophrenia in Chinese Han population

PeerJ ◽  
2020 ◽  
Vol 8 ◽  
pp. e8521
Author(s):  
Yingli Fu ◽  
Na Zhou ◽  
Wei Bai ◽  
Yaoyao Sun ◽  
Xin Chen ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Chinese Women ◽  
Han Chinese ◽  
Type I ◽  
Genotype Distribution ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Increased Risk ◽  
Significant Difference

Background Schizophrenia (SCZ) is a severely complex psychiatric disorder in which ~80% can be explained by genetic factors. Single nucleotide polymorphisms (SNPs) in calcium channel genes are potential genetic risk factors for a spectrum of psychiatric disorders including SCZ. This study evaluated the association between SNPs in the voltage-gated calcium channel auxiliary subunit alpha2delta 2 gene (CACNA2D2) and SCZ in the Han Chinese population of Northeast China. Methods A total of 761 SCZ patients and 775 healthy controls were involved in this case-control study. Three SNPs (rs3806706, rs45536634 and rs12496815) of CACNA2D2 were genotyped by the MALDI-TOF-MS technology. Genotype distribution and allele frequency differences between cases and controls were tested by Chi-square (χ2) in males and females respectively using SPSS 24.0 software. Linkage disequilibrium and haplotype analyses were conducted using Haploview4.2. The false discovery rate correction was utilized to control for Type I error by R3.2.3. Results There was a significant difference in allele frequencies (χ2 = 9.545, Padj = 0.006) and genotype distributions (χ2 = 9.275, Padj = 0.006) of rs45536634 between female SCZ patients and female healthy controls after adjusting for multiple comparisons. Minor allele A (OR = 1.871, 95% CI [1.251–2.798]) and genotype GA + AA (OR = 1.931, 95% CI [1.259–2.963]) were associated with an increased risk of SCZ. Subjects with haplotype AG consisting of rs45536634 and rs12496815 alleles had a higher risk of SCZ (OR = 1.91, 95% CI [1.26–2.90]) compared those with other haplotypes. Conclusions This study provides evidence that CACNA2D2 polymorphisms may influence the susceptibility to SCZ in Han Chinese women.

scholarly journals Single Nucleotide Polymorphisms in IFN-γ Signaling Pathway Associated with Risk of Hepatitis B Virus Infection in Chinese Children

2020 ◽  
Vol 2020 ◽  
pp. 1-8
Author(s):  
Yang Zhuo ◽  
Yalan Yang ◽  
Mingjun Zhang ◽  
Ying Xu ◽  
Zhongping Chen ◽  
...  
Keyword(s):  
Hepatitis B Virus ◽  
Hepatitis B ◽  
Single Nucleotide Polymorphisms ◽  
Signaling Pathway ◽  
Public Health Problem ◽  
Hbv Infection ◽  
Nucleotide Polymorphisms ◽  
Breakthrough Infection ◽  
Single Nucleotide ◽  
B Virus

Hepatitis B virus (HBV) infection is a challenging public health problem in China and worldwide. Mother-to-child transmission is one of the main transmission routes of HBV in highly endemic regions. However, the mechanisms of HBV perinatal transmission in children have not been clearly defined. The aim of this study was to demonstrate the association between single-nucleotide polymorphisms (SNPs) in IFN-γ signaling pathway and HBV infection or breakthrough infection in children. Two hundred and seventy-four HBV-infected children defined as test positive for hepatitis B surface antigen (HBsAg) and 353 controls defined as negative for HBsAg in China were recruited from October 2013 to May 2015. SNPs in IFN-γ signaling pathway including IFNG, IFNGR1, IFNGR2, and IL12B were genotyped. Rs2234711 in IFNGR1 was significantly associated with HBV infection in children (OR = 0.641, 95% CI: 0.450–0.913). In addition, rs2234711 was also significantly associated with HBV breakthrough infection in children born to HBsAg-positive mothers (OR = 0.452, 95% CI: 0.205–0.998). Our study confirmed that genetic variants in IFN-γ signaling pathway have significant associations with HBV infection, especially with HBV breakthrough in children. This study provides insight into HBV infection in children and could be used to help design effective strategies for reducing immunoprophylaxis failure.

scholarly journals ADIPOQ single nucleotide polymorphisms and breast cancer in northeastern Mexican women

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Ricardo M. Cerda-Flores ◽  
Karen Paola Camarillo-Cárdenas ◽  
Gabriela Gutiérrez-Orozco ◽  
Mónica Patricia Villarreal-Vela ◽  
Raquel Garza-Guajardo ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Mexican Women ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Significant Difference ◽  
Hardy Weinberg Equilibrium

Abstract Background Adiponectin gene (ADIPOQ) polymorphisms have been shown to affect adiponectin serum concentration and some have been associated with breast cancer (BC) risk. The aims of this study were to describe the frequency of single nucleotide polymorphisms (SNPs) of ADIPOQ in Mexican women with BC and to determine if they show an association with it. Methods DNA samples from 397 patients and 355 controls were tested for the ADIPOQ gene SNPs: rs2241766 (GT) and rs1501299 (GT) by TaqMan allelic discrimination assay. Hardy–Weinberg equilibrium (HWE) was tested. Multiple SNP inheritance models adjusted by age and body mass index (BMI) were examined for the SNP rs1501299. Results We found that in the frequency analysis of rs1501299 without adjusting the BMI and age, the genotype distribution had a statistically significant difference (P = 0.003). The T allele was associated with a BC risk (OR, 1.99; 95% CI 1.13–3.51, TT vs. GG; OR, 1.53; 95% CI 1.12–2.09, GT vs. GG). The SNP rs2241766 was in HW disequilibrium in controls. In conclusion, the rs1501299 polymorphism is associated with a BC risk. Conclusions Identification of the genotype of these polymorphisms in patients with BC can contribute to integrate the risk profile in both patients and their relatives as part of a comprehensive approach and increasingly more personalized medicine.

scholarly journals Associations between Aquaglyceroporin Gene Polymorphisms and Risk of Type 2 Diabetes Mellitus

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Yijun Wang ◽  
Gang Chen ◽  
Qingyun Tu ◽  
Junxia Wu ◽  
Yu Qin ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Metabolic Diseases ◽  
Proteinase K ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Polymerase Chain ◽  
And Gender

Objectives. AQP7 and AQP9 represent glycerol channel in adipose tissue and liver and have been associated with metabolic diseases. We aimed to investigate the associations between genetic variants in AQP7 and AQP9 genes and the risk of type 2 diabetes (T2DM) in Chinese population. Methods. Blood samples were drawn from 400 T2DM patients and 400 age- and gender-matched controls. Genomic DNA was extracted by proteinase K digestion and phenol–chloroform extraction. Genotyping of 5 single nucleotide polymorphisms (SNPs) in AQP7 (rs2989924, rs3758269, and rs62542743) and AQP9 (rs57139208, rs16939881) was performed by the polymerase chain reaction assay with TaqMan probes. Results. The subjects with rs2989924 GA+AA genotypes had 1.47-fold increased risk of T2DM (odds ratio [OR] 1.47, 95% confidence interval [CI] 1.06-2.04), compared to those with GG genotype, and this association remained significant after adjustment for covariates (OR 1.66, 95% CI 1.07-2.57). When compared with rs3758269 CC genotype, the subjects with CT+TT genotypes had 45% decreased T2DM risk after multivariate adjustment (OR 0.55, 95% CI 0.35-0.85). The associations were evident in elder and overweight subjects and those with central obesity. No association was observed between AQP9 SNPs and T2DM risk. Conclusions. AQP7 SNP rs2989924 and rs3758269 were associated with T2DM risk in Chinese Han population.

No Association between EGF +61 A/G Polymorphism and Increased Risk of Glioma

2009 ◽  
Vol 24 (2) ◽  
pp. 77-82 ◽  
Author(s):  
Xiaoqian Liu ◽  
Li Li ◽  
Xiangmei Chen ◽  
Xuefeng Wang ◽  
Luyan Mu ◽  
...  
Keyword(s):  
Chinese Population ◽  
Direct Sequencing ◽  
Genotype Distribution ◽  
Healthy Controls ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Significant Difference ◽  
Epidermal Growth ◽  
Asian People ◽  
Normal Controls

A single nucleotide polymorphism (SNP) of the epidermal growth factor ( EGF) gene +61 A/G in the 5′-untranslated region has been reported to be associated with susceptibility to glioma. A case-control study (168 glioma patients and 194 normal controls) was conducted to elucidate its possible association with the risk of glioma in the Chinese population. Polymerase chain reaction-restriction fragment length polymorphism assay was used to analyze the EGF genotypes. The genotyping results were further confirmed by direct sequencing. The EGF +61A and +61G allele frequencies in the glioma group were 32.1% and 67.9%, respectively, while they were 30.4% and 69.6% in the healthy controls. Furthermore, the frequency of the A/A, A/G and G/G genotypes in glioma patients was 8.9%, 46.4%, and 44.7%, respectively, and 8.3%, 44.3%, and 47.4% in controls. There was no significant difference between patients and healthy controls. The EGF +61 A/G and +61 G/G genotypes were not significantly associated with risk of glioma compared with the A/A genotype. In addition, no significant association was observed between EGF polymorphism and different histological grades of glioma. These results indicate that the EGF +61 A/G polymorphism is not associated with susceptibility to glioma in the Chinese population. In addition, a literature review revealed a significantly higher rate of the A/A genotype in Caucasian compared with East Asian subjects. Such differences in genotype distribution between Caucasian and Asian people should be taken into account in future studies.

Association of Polymorphism in Survivin gene and the risk of Liver Cancer resulting from Hepatitis C Virus among Egyptian patients

2021 ◽  
Vol 21 ◽  
Author(s):  
Amal A. Mohamed ◽  
Aymen S. Yassin ◽  
Basma S. Gomaa ◽  
Hossam Darwish ◽  
Rasha S. Mohamed ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Hepatitis C ◽  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Hepatitis C Infection ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Survivin Gene ◽  
Increased Risk ◽  
Significant Difference

Background: This study aims to investigate the relation between Survivin gene polymorphisms, and the risk of Hepatocellular carcinoma (HCC) resulting from hepatitis C infection among Egyptian population. Methods: This prospective study was conducted on 164 patients, 57 patients were diagnosed with hepatitis C, where other 57 were diagnosed with HCC in addition to 50 healthy volunteers as controls. Genotyping for Survivin rs1042489 and rs8073069 single nucleotide polymorphisms was carried out by the allelic discrimination Real-Time Polymerase Chain Reaction Single Nucleotide Polymorphisms genotyping technology. Results: The results of Survivin rs1042489 polymorphism, revealed that the TC and CC genotypes were significantly different between hepatocellular carcinoma patients (OR=15.5, 95%CI: 3.299-72.825,P<0.001), and controls (OR=44, 95%CI: 8.025-241.254, P<0.001). Furthermore, CC genotype was significantly different between cirrhotic and hepatocellular carcinoma patients (OR=19.2, 95%CI: 3.097-119.049, P=0.002). Moreover the TC genotype shows a significant different between controls and cirrhotic patients (OR=5.5, 95%CI: 2.111-14.328, P<0.001). However when comparing TT genotypes, CC+TC genotypes results showed a significant association with increasing the risk of cirrhosis and hepatocellular carcinoma (OR=4.812, 95%CI: 1.893-12.233, P=0.001), (OR=21.607, 95%CI: 4.738-98.532, P<0.01), respectively. On the other hand, there was no significant difference among all studied groups for all genotypes, regarding Survivin rs8073069. Also CC+GC genotype showed no significant association with increased the risk of hepatocellular carcinoma (P=0.999) compared with the GG genotypes. Conclusion: The study indicates that functional Survivin rs1042489 polymorphism may contribute to the risk of hepatocellular carcinoma while Survivin rs8073069 polymorphism has no significant association with increased risk of hepatocellular carcinoma among the studied groups.

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 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.

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