scholarly journals Associations of genetic variants at TAP1 and TAP2 with pulmonary tuberculosis risk among the Chinese population

2021 ◽  
Vol 149 ◽  
Author(s):  
Mingwu Zhang ◽  
Xiaomeng Wang ◽  
Yelei Zhu ◽  
Songhua Chen ◽  
Bin Chen ◽  
...  
Keyword(s):  
Pulmonary Tuberculosis ◽  
Antigen Processing ◽  
Haplotype Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genetic Predictor ◽  
Common Infectious Disease ◽  
Spss Software ◽  
Control Study ◽  
Tuberculosis Risk

Abstract Tuberculosis (TB) is a common infectious disease, and the present study aims to explore the associations of single nucleotide polymorphisms (SNPs) at rs1135216 and rs1057141 of transporter-associated antigen processing (TAP1) and rs2228396 of TAP2 with pulmonary tuberculosis (PTB) risk. A case–control study including 168 smear-positive PTB cases and 251 controls was conducted. Genotyping of the SNPs at rs1135216, rs1057141 and rs2228396 was performed, and their associations with PTB risk were analysed with SPSS software version 19.0. After conducting stratification for age, a significant association was detected for rs1057141 with increased PTB risk (OR = 0.17, 95% CI 0.04–0.79) among those aged ≥60 years. For those aged <60 years, a marginally significant association was detected between rs1135216 TC/CC and PTB risk (OR = 1.97, 95% CI 0.93–4.19). Haplotype analysis revealed that the haplotype AT at rs1135216 and rs2228396, as well as AAT at rs1057141, rs1135216 and rs2228396, was associated with increased PTB risk, and the ORs were 2.83 (95% CI 1.30–6.14) and 2.89 (95% CI 1.34–6.27), respectively. Rs1057141 is a genetic predictor of reduced PTB risk for those aged ≥60 years, while rs1135216 might be a potential genetic predictor for those aged <60 years. Haplotype AT at rs1135216 and rs2228396, as well as AAT at rs1057141, rs1135216 and rs2228396, is a genetic marker that may predict PTB risk.

scholarly journals SAA1 gene polymorphisms in osteoporosis patients

2019 ◽  
Vol 39 (2) ◽  
Author(s):  
Xindie Zhou ◽  
Jin Li ◽  
Lifeng Jiang ◽  
Dong Zhou ◽  
Lidong Wu ◽  
...  
Keyword(s):  
Haplotype Analysis ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Lipid Homeostasis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Amyloid A ◽  
Glucose And Lipid Homeostasis ◽  
Artery Disease ◽  
Control Study

Abstract Background: Serum amyloid A (SAA1) is an apolipoprotein that maintains glucose and lipid homeostasis. Its polymorphisms are associated with risks of myocardial infarction and coronary artery disease (CAD). Methods: However, little is known about the associations of these polymorphisms with susceptibility to osteoporosis, which we evaluated in this hospital-based case–control study involving 300 osteoporosis patients and 350 controls. Three single-nucleotide polymorphisms (SNPs) (rs183978373, rs12218, and rs10832915) were genotyped using MALDI TOF MS. Results: There were no differences in the rs183978373 and rs12218 polymorphisms between the osteoporosis group and controls. The SAA1 gene rs10832915 polymorphism increased the risk of osteoporosis in our Chinese population. The genotypes of the rs10832915 polymorphism were not significantly associated with clinical parameters (age, body mass index (BMI), high- and low-density lipoprotein (LDL), total cholesterol (TC), and T-score). Haplotype analysis revealed that the ATT haplotype had a significant correlation with a decreased risk of osteoporosis. Conclusion: In conclusion, the SAA1 rs10832915 polymorphism and its haplotypes are associated with osteoporosis, but this finding should be confirmed in large well-designed studies.

scholarly journals Endothelial Nitric Oxide Synthase Haplotypes Are Associated with Preeclampsia in Maya Mestizo Women

2011 ◽  
Vol 31 (2) ◽  
pp. 83-89 ◽  
Author(s):  
Lizbeth Díaz-Olguín ◽  
Ramón Mauricio Coral-Vázquez ◽  
Thelma Canto-Cetina ◽  
Samuel Canizales-Quinteros ◽  
Belem Ramírez Regalado ◽  
...  
Keyword(s):  
Haplotype Analysis ◽  
Recessive Model ◽  
Nucleotide Polymorphisms ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Pairwise Linkage Disequilibrium ◽  
Oxide Synthase ◽  
Endothelial Nitric Oxide ◽  
Intron 4 ◽  
Control Study

Preeclampsia is a specific disease of pregnancy and believed to have a genetic component. The aim of this study was to investigate if three polymorphisms ineNOSor their haplotypes are associated with preeclampsia in Maya mestizo women.A case-control study was performed where 127 preeclamptic patients and 263 controls were included. Genotyped and haplotypes for the -768T→C, intron 4 variants, Glu298Asp ofeNOSwere determined by PCR and real-time PCR allelic discrimination. Logistic regression analysis with adjustment for age and body mass index (BMI) was used to test for associations between genotype and preeclampsia under recessive, codominant and dominant models. Pairwise linkage disequilibrium between single nucleotide polymorphisms was calculated by direct correlationr2, and haplotype analysis was conducted.Women homozygous for the Asp298 allele showed an association of preeclampsia. In addition, analysis of the haplotype frequencies revealed that the -786C-4b-Asp298 haplotype was significantly more frequent in preeclamptic patients than in controls (0.143 vs. 0.041, respectively; OR = 3.01; 95% CI = 1.74–5.23;P= 2.9 × 10−4).Despite the Asp298 genotype in a recessive model associated with the presence of preeclampsia in Maya mestizo women, we believe that in this population the -786C-4b-Asp298 haplotype is a better genetic marker.

scholarly journals Influence of TLR-8 Gene Polymorphisms (rs3764880 and rs3788935) Associated to Pulmonary Tuberculosis in Kupang, Indonesia

2021 ◽  
Vol 9 (1) ◽  
pp. 9
Author(s):  
Afandi Charles ◽  
Simeon Penggoam ◽  
Ani Melani Maskoen ◽  
Edhyana Sahiratmadja
Keyword(s):  
Pulmonary Tuberculosis ◽  
Intracellular Signaling ◽  
Gene Polymorphisms ◽  
Pathogenic Bacteria ◽  
Nucleotide Polymorphisms ◽  
Toll Like Receptor ◽  
Single Nucleotide ◽  
Significant Difference ◽  
Hardy Weinberg Equilibrium ◽  
Control Study

Toll-like receptor 8 (TLR-8) is known as part of intracellular signaling transduction for bacterial phagocytosis. Mycobacterium tuberculosis (Mtb) is intracellular pathogenic bacteria that is recognized by this receptor, and genetic variation of TLR-8 might alter susceptibility of the host towards pulmonary tuberculosis (PTB). This study aimed to determine whether TLR-8 gene polymorphisms were associated to PTB in Kupang, Indonesia. This case-control study compared demographic and clinical data between 115 PTB patients and 115 controls, then two TLR-8 single nucleotide polymorphisms (rs3764880 and rs3788935) were explored using the GoldenGate® Genotyping for VeraCode® / BeadXpress Illumina®. There is no significant difference between sex distribution of patient vs control groups. The polymorphisms (rs3764880 and rs3788935) are in Hardy-Weinberg Equilibrium in this population (p > 0.05). The distribution of major vs minor genotypes and alleles of TLR-8 polymorphisms in PTB patients were as followed: rs3764880 (GG vs GA vs AA, 50.0% vs 21.4% vs 28.6% ; G vs A, 60.9% vs 39.1% ) and rs3788935 (GG vs GA vs AA, 53.0% vs 21.7% vs 25.3%; G vs A, 62.9% vs 37.1%). Neither genotypes nor alleles were associated with PTB in this population (P > 0.05). Besides, when the analyses were stratified by gender, none of the alleles of polymorphism in both genders were associated with PTB cases. None of the TLR-8 polymorphisms have associated the risk of developing PTB in Kupang, East Nusa Tenggara population (as opposed to other studies in different ethnic groups). These might reflect the diversity of genetic polymorphisms in eastern Indonesia populations, suggesting different genetic backgrounds with western part of Indonesia. 

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.

scholarly journals CYP3A4 and CYP11A1 Variants are Risk Factors for Ischemic Stroke: a Case Control Study

2019 ◽  
Author(s):  
Ning Gao ◽  
Hong Tang ◽  
Ling Gao ◽  
Guolong Tu ◽  
Han Luo ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Haplotype Analysis ◽  
Case Control Study ◽  
Density Lipoprotein ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Age And Gender ◽  
Single Nucleotide ◽  
And Gender ◽  
Control Study

Abstract Background This study aimed to investigate the roles of CYP3A4 and CYP11A1 variants in ischemic stroke (IS) susceptibility among the Han Chinese population. Methods 477 patients with IS and 493 healthy controls were enrolled. Seven single-nucleotide polymorphisms (SNPs) of CYP3A4 and CYP11A1 were genotyped by Agena MassARRAY. Odds ratio (OR) and 95% confidence intervals (CI) were calculated by logistic regression adjusted for age and gender. Results We found that CYP3A4 rs3735451 (OR = 0.81, p = 0.039) and rs4646440 (OR = 0.72, p = 0.021) polymorphisms decreased the risk of IS. CYP3A4 rs4646440 (OR = 0.74, p = 0.038) and CYP11A1 rs12912592 (OR = 1.58, p = 0.034) polymorphisms were correlated with IS risk in males. CYP3A4 rs3735451 (OR = 0.63, p = 0.031) and rs4646440 (OR = 0.57, p = 0.012) possibly weaken the IS susceptibility at age > 61 years. Besides, CYP3A4 rs4646437 (OR = 0.59, p = 0.029), CYP11A1 rs12912592 (OR = 1.84, p = 0.017) and rs28681535 (OR = 0.66, p = 0.038) were associated with IS risk at age ≤ 61 years. Haplotype analysis showed that CYP3A4 GT haplotype (rs4646440 and rs35564277) increased the susceptibility to IS (OR = 1.29, p = 0.033). CYP11A1 rs28681535 TT genotype was higher high-density lipoprotein cholesterol level than the GT and GG genotype (p = 0.027). Conclusions Our findings indicated that rs3735451, rs4646440, rs4646437 in CYP3A4 and rs28681535 in CYP11A1 might be protective factors for IS, while CYP11A1 rs12912592 polymorphism be a risk factor for IS in Chinese Han population.

Influence of the Acetylation Type on the Incidence of Isoniazid-Induced Hepatotoxicity in Patients with Newly Diagnosed Pulmonary Tuberculosis

2020 ◽  
Vol 65 (7-8) ◽  
pp. 31-36
Author(s):  
N. M. Krasnova ◽  
N. E. Evdokimova ◽  
A. A. Egorova ◽  
O. I. Filippova ◽  
E. A. Alekseeva ◽  
...  
Keyword(s):  
Pulmonary Tuberculosis ◽  
Clinical Laboratory ◽  
Clinical Manifestations ◽  
Normal Activity ◽  
Slow Acetylators ◽  
Nucleotide Polymorphisms ◽  
Newly Diagnosed ◽  
Single Nucleotide ◽  
Tuberculosis Chemotherapy ◽  
Genetically Determined

Introduction. Liver damage can be a dangerous side effect of using isoniazid. Individual susceptibility to isoniazid in humans is dependent on the presence of N-acetyltransferase 2 allelic variants in genome. It was imperative to assess the effect of genetically determined isoniazid acetylation rate in terms of risk of developing isoniazid-induced hepatotoxicity, as well as prevention of potential hepatopathy, and improvement of tuberculosis chemotherapy safety. Aim. To study the effect of acetylation type on the incidence of isoniazid hepatotoxicity in residents of the Sakha Republic (Yakutia) with newly diagnosed pulmonary tuberculosis. Methods. The study included 112 patients with newly diagnosed pulmonary tuberculosis. Genotyping was performed using real-time polymerase chain reaction. The following single nucleotide polymorphisms were studied: rs1801280, rs1799930, rs1799931, rs1799929, rs1208, rs1041983. Hepatotoxicity was determined based on the results of clinical laboratory monitoring and using the criteria developed by the European Association for the Study of the Liver (2019). Results. Hepatotoxic reactions developed more often in slow acetylators (43.2%), compared to fast acetylators (20.7%) and intermediate acetylators (10.9%); p=0.002. Serum alanine aminotransferase activity was 5 or more times above the upper limit of normal activity in 37.8% of slow acetylators, and in 8.7% of intermediate acetylators; p=0.001. Clinical manifestations of isoniazid hepatotoxicity were observed more often in slow acetylators (29.7%), than in fast acetylators (3.4%); p=0.000. Conclusion. Slow acetylation type ought to be considered an important risk factor for developing isoniazid hepatotoxicity in patients with pulmonary tuberculosis.

scholarly journals Impact of PD-1 gene polymorphism and its interaction with tea drinking on susceptibility to tuberculosis

2021 ◽  
Vol 149 ◽  
Author(s):  
Jing Wang ◽  
Mian Wang ◽  
Zihao Li ◽  
Xinyin Wu ◽  
Xian Zhang ◽  
...  
Keyword(s):  
Case Control Study ◽  
Preventive Measures ◽  
Nucleotide Polymorphisms ◽  
Unconditional Logistic Regression ◽  
Negative Interaction ◽  
Single Nucleotide ◽  
High Risk Populations ◽  
Tea Drinking ◽  
The Impact ◽  
Control Study

Abstract The aim of this study was to explore the impact of polymorphism of PD-1 gene and its interaction with tea drinking on susceptibility to tuberculosis (TB). A total of 503 patients with TB and 494 controls were enrolled in this case–control study. Three single-nucleotide polymorphisms of PD-1 (rs7568402, rs2227982 and rs36084323) were genotyped and unconditional logistic regression analysis was used to identify the association between PD-1 polymorphism and TB, while marginal structural linear odds models were used to estimate the interactions. Genotypes GA (OR 1.434), AA (OR 1.891) and GA + AA (OR 1.493) at rs7568402 were more prevalent in the TB patients than in the controls (P < 0.05). The relative excess risk of interaction (RERI) between rs7568402 of PD-1 genes and tea drinking was −0.3856 (95% confidence interval −0.7920 to −0.0209, P < 0.05), which showed a negative interaction. However, the RERIs between tea drinking and both rs2227982 and rs36084323 of PD-1 genes were not statistically significant. Our data demonstrate that rs7568402 of PD-1 genes was associated with susceptibility to TB, and there was a significant negative interaction between rs7568402 and tea drinking. Therefore, preventive measures through promoting the consumption of tea should be emphasised in the high-risk populations.

scholarly journals Association between CTSS gene polymorphism and the risk of acute atherosclerotic cerebral infarction in Chinese population: a case–control study

2018 ◽  
Vol 38 (6) ◽  
Author(s):  
Lian Luo ◽  
Mingli Zhu ◽  
Jiajun Zhou
Keyword(s):  
Cerebral Infarction ◽  
Case Control Study ◽  
Case Control ◽  
Cathepsin S ◽  
Control Group ◽  
Study Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Independent Risk Factors ◽  
Control Study

Objective: To investigate the association between the gene polymorphisms of rs774320676, rs768437857, rs928508030, and rs2275235 loci of Cathepsin S (CTSS) and risk of acute atherosclerotic cerebral infarction. Methods: A total of 315 patients with acute atherosclerotic cerebral infarction (study group) and 220 healthy subjects (control group) were enrolled in the present study. The genetic polymorphism of rs774320676, rs768437857, rs928508030, and rs2275235 loci of CTSS of subjects was analyzed by PCR-Sanger sequencing. Results: The proportion of carriers with mutant T allele at rs774320676 locus and mutant G allele at rs928508030 locus of CTSS in study group was significantly higher than the proportion in control group (P=0.000, adjusted odds ratio (OR) = 1.332, 95% confidence interval (CI) = 1.200–1.460; P<0.001, adjusted OR = 1.185, 95% CI = 1.055–1.314; P=0.002). The T allele at rs774320676 locus and the G allele at rs928508030 locus of CTSS were independent risk factors for acute atherosclerotic cerebral infarction (OR = 2.534, 95% CI = 1.020–4.652, P=0.006; OR = 2.016, 95% CI = 1.031–4.385, P=0.031). Conclusion: The single nucleotide polymorphisms (SNPs) of rs774320676 and rs928508030 of CTSS gene were related with risk for acute atherosclerotic cerebral infarction. The T allele at rs774320676 locus and G allele at rs928508030 locus of CTSS were genetic susceptibility genes of acute atherosclerotic cerebral infarction.

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