scholarly journals Polymorphisms in the SP110 and TNF-α Gene and Susceptibility to Pulmonary and Spinal Tuberculosis among Southern Chinese Population

2017 ◽  
Vol 2017 ◽  
pp. 1-8 ◽  
Author(s):  
Ying Zhou ◽  
Chun-yan Tan ◽  
Zhi-jiang Mo ◽  
Qi-le Gao ◽  
Dan He ◽  
...  
Keyword(s):  
Protective Factor ◽  
Southern China ◽  
Spinal Tuberculosis ◽  
Control Group ◽  
Case Group ◽  
Nucleotide Polymorphisms ◽  
Healthy Individuals ◽  
Single Nucleotide ◽  
Southern Chinese ◽  
Tnf Α

Objective. To investigate the association of single-nucleotide polymorphisms (SNPs) in SP110 gene and TNF-α gene among pulmonary TB (PTB) and spinal TB (STB) patients. Methods. In a total of 190 PTB patients, 183 STB patients were enrolled as the case group and 362 healthy individuals at the same geographical region as the control group. The SP110 SNPs (rs722555 and rs1135791) and the promoter -308G>A (rs1800629) and -238G>A (rs361525) polymorphisms in TNF-α were genotyped. Results. TNF-α -238G>A polymorphism was involved in susceptibility to STB, but not to PTB. The TNF-α -238 A allele was a protective factor against STB (A versus G: OR [95% CI] = 0.331 [0.113–0.972], P=0.044). Furthermore, the presence of the -238 A allele was considered a trend to decrease the risk of STB (AG versus GG: P=0.062, OR [95% CI] = 0.352 [0.118–1.053]; AA + AG versus GG: P=0.050, OR [95CI%] = 0.335 [0.113–0.999]). However, SP110 SNPs (rs722555 and rs1135791) and TNF-α -308G>A (rs1800629) showed no association with PTB and STB in all genetic models. Conclusion. The TNF-α -238 A allele appeared a protective effect against STB, whereas the SP110 SNPs (rs722555 and rs1135791) and TNF-α -308G>A (rs1800629) showed no association with susceptibility to PTB and STB patients in southern China.

scholarly journals Association of single-nucleotide polymorphisms in the ESR2 and FSHR genes with poor ovarian response in infertile Jordanian women

2021 ◽  
Vol 48 (1) ◽  
pp. 69-79
Author(s):  
Amer Mahmoud Sindiani ◽  
Osamah Batiha ◽  
Esra’a Al-zoubi ◽  
Sara Khadrawi ◽  
Ghadeer Alsoukhni ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Statistical Significance ◽  
Ovarian Response ◽  
Control Group ◽  
P Value ◽  
Case Group ◽  
Nucleotide Polymorphisms ◽  
Poor Ovarian Response ◽  
Single Nucleotide ◽  
Number Of Patients

Objective: Poor ovarian response (POR) refers to a subnormal follicular response that leads to a decrease in the quality and quantity of the eggs retrieved after ovarian stimulation during assisted reproductive treatment (ART). The present study investigated the associations of multiple variants of the estrogen receptor 2 (ESR2) and follicle-stimulating hormone receptor (FSHR) genes with POR in infertile Jordanian women undergoing ART.Methods: Four polymorphisms, namely ESR2 rs1256049, ESR2 rs4986938, FSHR rs6165, and FSHR rs6166, were investigated in 60 infertile Jordanian women undergoing ART (the case group) and 60 age-matched fertile women (the control group), with a mean age of 33.60±6.34 years. Single-nucleotide polymorphisms (SNPs) were detected by restriction fragment length polymorphism and then validated using Sanger sequencing.Results: The p-value of the difference between the case and control groups regarding FSHR rs6166 was very close to 0.05 (p=0.054). However, no significant differences were observed between the two groups in terms of the other three SNPs, namely ESR2 rs1256049, ESR2 rs4986938, and FSHR rs6165 (p=0.561, p=0.433, and p=0.696, respectively).Conclusion: The association between FSHR rs6166 and POR was not statistically meaningful in the present study, but the near-significant result of this experiment suggests that statistical significance might be found in a future study with a larger number of patients.

The G allele in IL-10-1082 G/A may have a role in lowering the susceptibility to panic disorder in female patients

2016 ◽  
Vol 28 (6) ◽  
pp. 357-361 ◽  
Author(s):  
Han-Joon Kim ◽  
Yong-Ku Kim
Keyword(s):  
Panic Disorder ◽  
Patient Group ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Female Patients ◽  
Immune System Activation ◽  
Tnf Α ◽  
System Activation ◽  
And Control

BackgroundImmune system activation is involved in the pathophysiology of panic disorder (PD). We investigated INF-γ+874 A/T, TNF-α-308 G/A, and IL-10-1082 G/A single nucleotide polymorphisms (SNPs) to determine their association with PD.MethodThis study enroled 135 PD patients and 135 healthy controls. INF-γ+874 A/T (rs2430561), TNF-α-308 G/A (rs1800629), and IL-10-1082 G/A (rs1800896) were genotyped.ResultsThere were no differences in genotypes or allele frequencies between the patient and control groups, regardless of accompanying agoraphobia. However, for female patients, the G allele frequency in IL-10 SNP was higher in the control group than in the patient group. Additionally, the female control group had a higher frequency of the A/G and G/G genotype in the IL-10 SNP than the female patient group.ConclusionWe suggest that the G allele in IL-10-1082 G/A might have a role in reducing the manifestations of PD in female patients. Further studies are needed to extend and confirm our findings.

scholarly journals Association of single nucleotide polymorphisms in CACNA 1A/CACNA 1C/CACNA 1H calcium channel genes with diabetic peripheral neuropathy in Chinese population

2018 ◽  
Vol 38 (3) ◽  
Author(s):  
Lin Sun ◽  
Jun Ma ◽  
Qian Mao ◽  
Yun-Long Yang ◽  
Lin-Lin Ma ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Single Nucleotide Polymorphisms ◽  
Calcium Channel ◽  
Diabetic Peripheral Neuropathy ◽  
Chinese Population ◽  
Control Group ◽  
Case Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Pcr Rflp

The present study was conducted to explore the correlations between single nucleotide polymorphisms (SNPs) in the calcium channel CACNA 1A, CACNA 1C, and CACNA 1H genes and diabetic peripheral neuropathy (DPN) amongst the Chinese population. In total, 281 patients diagnosed with type 2 diabetes participated in the present study. These patients were divided into the case group, which was subdivided into the DPN (143 cases) and the non-DPN groups (138 cases). Subsequently, 180 healthy individuals that had undergone routine health examinations were also recruited and assigned to the control group. PCR-restriction fragment length polymorphism (PCR-RFLP) was used to detect the genotype and allele frequencies of CACNA 1A, CACNA 1C, and CACNA 1H genes; logistic regression analysis to investigate the association of gene polymorphisms with DNP. Gene–gene interactions were then detected by generalized multifactor dimensionality reduction (GMDR). The results revealed that CACNA 1A rs2248069 and rsl6030, CACNA 1C rs216008 and rs2239050, and CACNA 1H rs3794619, and rs7191246 SNPs were all associated with DPN, while rs2248069, rsl6030, rs2239050, and rs7191246 polymorphisms were attributed to the susceptibility to DPN. It was also observed that the optimal models were three-, four- and five-dimensional models with a prediction accuracy of 61.05% and the greatest consistency of cross-validation was 10/10. In summary, these findings demonstrated that the SNPs in the CACNA 1A, CACNA 1C, and CACNA 1H genes were involved in the pathophysiology of DPN. In addition, polymorphisms in the CACNA 1A, CACNA 1C, and CACNA 1H genes and their interactions also had effects on DPN.

scholarly journals Single Nucleotide Polymorphisms inP2X7Gene Are Associated with Serum Immunoglobulin G Responses toMycobacterium tuberculosisin Tuberculosis Patients

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Jiangdong Wu ◽  
Lijun Lu ◽  
Le Zhang ◽  
Yulei Ding ◽  
Fang Wu ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Immunoglobulin G ◽  
Serum Immunoglobulin ◽  
Control Group ◽  
Case Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Mutant Genotype ◽  
Pcr Rflp ◽  
Positive Rate

Objective. Our study investigated the association between single nucleotide polymorphisms (SNPs) in P2X7 gene and serum immunoglobulin G (IgG) responses to mycobacterium tuberculosis (MTB) in TB patients.Methods. A total of 103 TB patients were enrolled as case group and 87 healthy individuals at same geographical region as control group. The SNP detection of 1513A>C and -762T>C was performed using PCR-RFLP, and the levels of serum IgG responses to MTB in all subjects were determined.Results. AC and CC of 1513A>C and TC and CC of -762T>C had higher frequencies in case group than in control group. TB patients carrying TC and CC of -762T>C had higher positive rate of IgG responses to MTB than those carrying TT. Additionally, patients carrying TC and CC of -762T>C had more MTB in sputum than those carrying TT.Conclusion. P2X7 SNPs, 1513A>C and -762T>C, may be associated with the susceptibility to tuberculosis, and -762T>C SNP may contribute to the development of MTB. The mutant genotype of -762T>C (TC and CC) may lower human capability of phagocytosis to MTB, leading to an increased morbidity of TB.

scholarly journals Genotype TNF-α(-308) and Silicosis on Factory Workers in Vietnam in 2020

2021 ◽  
Vol 1 (2) ◽  
Author(s):  
Viet NGUYEN ◽  
Thi Thu Huyen NGUYEN ◽  
Xuan Dat DAO ◽  
Xuan Quy VU ◽  
Thi Quan PHAM ◽  
...  
Keyword(s):  
Average Concentration ◽  
Control Group ◽  
Case Group ◽  
Nucleotide Polymorphism ◽  
Factory Workers ◽  
Single Nucleotide ◽  
Tnf Α ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Study Participants

The studFigy aims to determine the TNF-α single-nucleotide polymorphism TNF-α (-308) andassess the association of TNF-a(-308) SNP with the risk of silicosis among workers directly exposed tosilica dust in Vietnam. A study was undertaken among 78 cases with silicosis and 103 controls withoutsilicosis in Vietnam. Blood samples were collected for genomic DNA extraction from each subject. Thephenotyping of TNF-α(-308) was performed using polymerase chain reaction‐based restriction fragmentlength polymorphism (PCR‐RFLP) and dye termination sequencing. Results: The average exposure timeof the case group was slightly higher than that of the control group (12.46 ± 6.732 years vs. 12.09 ± 7.854years). The majority of genotypes in both silicosis and non-silicosis was GG. When analyzing theconcentration of TNF-α in the study participants' blood, it is shown that the average concentration of TNF-α in the case group was higher than that in the control group. The genotype AG in the case group was1.368 times higher than that in the control group. The percentage of all A alleles in the case group withsilicosis was 1.342 times higher than the control group without the disease, similar to previous studies.Conclusion: The majority of genotypes in both groups was GG. The average concentration of TNF-α inblood, genotype AG, and the percentage of all A alleles in the case group was higher than that in thecontrol group.

scholarly journals Relationship between single nucleotide polymorphisms in the 3′UTR of amyloid precursor protein and risk of Alzheimer’s disease and its mechanism

2019 ◽  
Vol 39 (5) ◽  
Author(s):  
Qiong Zhou ◽  
Lian Luo ◽  
Xiaohang Wang ◽  
Xiang Li
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Single Nucleotide Polymorphisms ◽  
Amyloid Precursor Protein ◽  
Protective Factor ◽  
Precursor Protein ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
A Site

Abstract Background and objective: Deregulation of the expression of amyloid precursor protein (APP) can lead to the development of Alzheimer’s disease (AD). Recent studies have shown that many single nucleotide polymorphisms (SNPs) in the 3′ untranslated region (UTR) of APP are associated with the development of AD. Since microRNAs (miRNAs) are involved in the regulation of APP expression, we believe that the APP 3′UTR polymorphism may affect the regulation of APP expression in miRNAs. Results: The levels of miR-101-3p, miR-153-3p, miR-144-3p, miR-381-3p, and miR-383-5p in plasma of patients with AD were significantly lower than those in the control group. The APP-534G/A site A allele was a protective factor for AD risk (adjusted odds ratio (OR) = 0.700, 95% confidence interval (95% CI): 0.573–0.840, P<0.001). The APP-369C/G site variation was not associated with AD risk. The APP-118C/A site A allele was a protective factor for AD (adjusted OR = 0.762, 95% CI: 0.639–0.897, P=0.001). The APP-534G/A site mutation affects the regulation of APP protein expression by miR-101-3p, miR-144-3p, miR-153-3p, and miR-381-3p, and the mutation of the APP-118C/A site affects miR-101-3p, miR-144-3p, miR-153-3p, and miR-383-5p regulation of APP expression. Conclusion: APP 3′UTR polymorphisms can affect the regulation of APP expression by miRNAs and thus affect the occurrence of AD.

COL1A1, COL4A3, TIMP2 and TGFB1 polymorphisms in cervical insufficiency

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Ana Paula V. D. Alves ◽  
Amanda B. Freitas ◽  
José Eduardo Levi ◽  
Antonio G. Amorim Filho ◽  
Lucas A. M. Franco ◽  
...  
Keyword(s):  
Control Group ◽  
Case Group ◽  
Cervical Insufficiency ◽  
Nucleotide Polymorphisms ◽  
Normal Allele ◽  
Wild Type ◽  
Single Nucleotide ◽  
Genes Encoding ◽  
In The Wild ◽  
Inflammatory Processes

Abstract Objectives To investigate the association between selected single nucleotide polymorphisms (SNPs) with cervical insufficiency and its relationship with obstetric history. Methods Twenty-eight women with cervical insufficiency (case group) and 29 non-pregnant women (control group) were included. The SNPs sequenced included rs2586490 in COL1A1, rs1882435 in COL4A3, rs2277698 in TIMP2, and rs1800468 in TGFB1. Results We found a higher frequency of the normal allele in the control group (65.5%) and the homozygous mutated genotype in the case group (64.3%) for rs2586490 in COL1A1 (p=0.023). An unplanned finding in the cervical insufficiency group was a higher gestational age of delivery (median≥38 weeks) in the mutated allele than in the wild-type genotype (median of 28.2 weeks) for rs2857396, which is also in the COL1A1 gene (p=0.011). Conclusions The findings of the present study corroborate the hypothesis that cervical insufficiency has a genetic component and probably involves genes encoding proteins in the extracellular matrix, in addition to inflammatory processes.

scholarly journals Single nucleotide polymorphism rs1799794 in XRCC3 gene on breast cancer patients

2021 ◽  
Vol 62 (2) ◽  
pp. 5-9
Author(s):  
Thi Thu Thao Nguyen ◽  
◽  
Thu Thuy Nguyen ◽  
Vu Viet Ha Vuong ◽  
Huy Thinh Tran ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Disease Onset ◽  
Strand Break ◽  
Control Group ◽  
Case Group ◽  
Protective Effects ◽  
Nucleotide Polymorphisms ◽  
Breast Cancer Patients ◽  
Single Nucleotide ◽  
Xrcc3 Gene

The single nucleotide polymorphisms of the XRCC3 gene including rs1799794 affect the DNA double-strand break/repair. Therefore, it plays a critical part in the initiation of carcinogenesis. This study aimed to investigate the distribution of rs1799794 and the association between rs1799794 and breast cancer risk. The study was performed in 208 Vietnamese females suffering from breast cancer and 208 age-matched normal healthy controls. DNA was extracted from whole blood whilst genotyping was conducted using PCR-RFLP. The results show that the frequency of the A and G allele in the case group are 0.575 and 0.425, in the control group are 0.548 and 0.452. The frequency of AA, AG, GG genotype in the case group are 34.6, 45.7, and 19.7%; in the control group are 33.2, 43.3, and 23.5%. AG genotype of rs1799794 associated with disease onset early of breast cancer, increasing the risk of breast cancer among those who were 45 years old and younger. The GG genotype has protective effects and reduces the risk of breast cancer in the age group ≤45 years.

scholarly journals CD44, IL-33, and ST2 Gene Polymorphisms on Hepatocellular Carcinoma Susceptibility in the Chinese Population

2020 ◽  
Vol 2020 ◽  
pp. 1-11
Author(s):  
Xiaolan Pan ◽  
Meiqin Li ◽  
Lei Huang ◽  
Dan Mo ◽  
Yihua Liang ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Single Nucleotide Polymorphisms ◽  
Chinese Population ◽  
Haplotype Analysis ◽  
Control Group ◽  
Case Group ◽  
Nucleotide Polymorphisms ◽  
Cancer Stemness ◽  
Single Nucleotide ◽  
The Relationship

The interleukin- (IL-) 33/ST2 axis plays a pivotal role in tumorigenesis through influencing cancer stemness and other mechanisms. CD44 is one of the critical markers of hepatocellular carcinoma (HCC) among the cancer stem cells (CSCs). There is still a lack of CD44 gene single-nucleotide polymorphisms (SNPs) combined with IL-33/ST2 pathway single-nucleotide polymorphisms in HCC susceptibility analysis literature, although CD44 and IL-33/ST2 have been reported separately in human cancers. This study is aimed at investigating the relationship between CD44, IL-33, and ST2 SNPs and HCC susceptibility and clinicopathological features. We analyzed 565 HCC patients and 561 healthy controls in the Chinese population. The genes for CD44rs187115A>G, IL-33 rs1929992A>G, and ST2 rs3821204G>C were typed using the SNaPshot method. We found that the distribution frequencies of CD44 and ST2 alleles and genotypes in both the HCC case group and the control group were statistically significant ( p < 0.05 ). The results showed that individuals carrying at least one G allele of the CD44 rs187115 gene were at a higher risk than the AA genotype carriers ( p = 0.007 , odds   ratio   OR = 1.429 , 95% confidence interval (CI): 1.102–1.854). Similarly, individuals with at least one C allele of ST2 rs3821204 had a higher risk of HCC than those with GG genes ( p ≤ 0.001 , OR = 1.647 , 95% CI: 1.296-2.093). Combining the haplotype analysis of the 3 loci suggested that CD44 rs187115, IL-33 rs1929992, and ST2 rs3821204 are associated with the risk of HCC and could potentially serve as useful genetic markers for HCC in some populations of China.

scholarly journals The effect of SOX4 gene 3′UTR polymorphisms on osteoporosis

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Guo Li ◽  
Zuchao Gu ◽  
Yue He ◽  
Chongwen Wang ◽  
JiQiang Duan
Keyword(s):  
Protective Factor ◽  
Multiple Logistic Regression Analysis ◽  
High Mobility ◽  
Control Group ◽  
Case Group ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Gene 4 ◽  
Osteoporosis Risk ◽  
T Haplotype

Abstract Objective This study aimed to explore the correlation between the SRY-related high-mobility-group box gene 4 (SOX4) 3′ untranslated region (UTR) single nucleotide polymorphism (SNP) and osteoporosis susceptibility. Methods The study recruited 330 osteoporosis patients (the case group) and 330 non-osteoporosis patients (the control group) in Sichuan Chengdu First People’s Hospital and Zibo Central Hospital from August 2016 to August 2019. Sanger sequencing was used to analyze the genotypes of SOX4 gene rs79958549, rs139085828, and rs201335371 loci. Multi-factor dimensionality reduction (MDR) was used to analyze the interaction between the SOX4 gene rs79958549, rs139085828, and rs201335371 loci and the clinical characteristics of the subjects. Results The risk of osteoporosis in the carriers of A allele at SOX4 rs79958549 was 5.40 times that in the carriers of the G allele (95% CI 3.25–8.96, P < 0.01). The risk of osteoporosis in the carriers of the A allele at SOX4 rs139085828 was 1.68 times that in the carriers of the G allele (95% CI 1.45–1.85, P < 0.01). The risk of osteoporosis in the carriers of the T allele at SOX4 rs201335371 was 0.54 times that in the carriers of the C allele (95% CI 0.43–0.69, P < 0.01). The SOX4 gene rs79958549, rs139085828, and rs201335371 A-A-C haplotype (OR = 5.14, 95% CI 2.45–10.57, P < 0.01) were associated with increased risk of osteoporosis and G-G-T haplotype was significantly associated with decreased risk of osteoporosis (OR = 0.48, 95% CI 0.38–0.62, P < 0.01). The interaction among the factors of sex, smoking, drinking, rs79958549, rs201335371 was the best model for osteoporosis prediction, and the risk for osteoporosis in ‘high-risk combination’ was 2.74 times that of ‘low-risk combination’ (95% CI 1.01–7.43, P = 0.04). Multiple logistic regression analysis revealed that the risk factors for osteoporosis were BMD (OR = 5.85, 95% CI 2.88–8.94, P < 0.01), T score (OR = 8.54, 95% CI 5.66–10.49, P < 0.01), Z score (OR = 3.77, 95% CI 2.15–8.50, P < 0.01), rs79958549 SNP (OR = 6.92, 95% CI 3.58–8.93, P < 0.01), and rs139085828 SNP (OR = 2.36, 95% CI 1.85–4.27, P < 0.01). The protective factor for osteoporosis was rs201335371SNP (OR = 0.48, 95% CI 0.32–0.75, P < 0.01). Conclusion The SOX4 gene SNPs rs79958549, rs139085828, and rs201335371 loci were significantly associated with osteoporosis risk.

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