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 High-Throughput Genotyping with Single Nucleotide Polymorphisms

2001 ◽  
Vol 11 (7) ◽  
pp. 1262-1268
Author(s):  
Koustubh Ranade ◽  
Mau-Song Chang ◽  
Chih-Tai Ting ◽  
Dee Pei ◽  
Chin-Fu Hsiao ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
High Throughput ◽  
Large Scale ◽  
Association Studies ◽  
Nucleotide Polymorphisms ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Oxide Synthase ◽  
Endothelial Nitric Oxide

To make large-scale association studies a reality, automated high-throughput methods for genotyping with single-nucleotide polymorphisms (SNPs) are needed. We describe PCR conditions that permit the use of the TaqMan or 5′ nuclease allelic discrimination assay for typing large numbers of individuals with any SNP and computational methods that allow genotypes to be assigned automatically. To demonstrate the utility of these methods, we typed >1600 individuals for a G-to-T transversion that results in a glutamate-to-aspartate substitution at position 298 in the endothelial nitric oxide synthase gene, and a G/C polymorphism (newly identified in our laboratory) in intron 8 of the 11–β hydroxylase gene. The genotyping method is accurate—we estimate an error rate of fewer than 1 in 2000 genotypes, rapid—with five 96-well PCR machines, one fluorescent reader, and no automated pipetting, over one thousand genotypes can be generated by one person in one day, and flexible—a new SNP can be tested for association in less than one week. Indeed, large-scale genotyping has been accomplished for 23 other SNPs in 13 different genes using this method. In addition, we identified three “pseudo-SNPs” (WIAF1161, WIAF2566, and WIAF335) that are probably a result of duplication.

scholarly journals Association between Endothelial Nitric Oxide Synthase Polymorphisms and Risk of Metabolic Syndrome

2013 ◽  
Vol 34 (3) ◽  
pp. 187-197 ◽  
Author(s):  
Chiu-Shong Liu ◽  
Ru-Jiun Huang ◽  
Fung-Chang Sung ◽  
Cheng-Chieh Lin ◽  
Chih-Ching Yeh
Keyword(s):  
Metabolic Syndrome ◽  
Endothelial Nitric Oxide Synthase ◽  
Gene Polymorphisms ◽  
Haplotype Analysis ◽  
Variant Genotype ◽  
Oxide Synthase ◽  
Endothelial Nitric Oxide ◽  
Self Administered Questionnaire ◽  
Control Study

BACKGROUND: Previous studies inferring that theNOS3gene was associated with the pathogenesis of metabolic syndrome (MetS) had inconsistent findings. We investigated the role of threeNOS3polymorphisms (T-786C, intron 4b/a, and G894T) in the risk of MetS using a hospital-based case-control study.METHODS: We recruited 339 MetS cases and 783 non-MetS controls at a central Taiwanese hospital. Information on sociodemographic and lifestyle factors was obtained using a self-administered questionnaire. Genotypes ofNOS3polymorphisms were compared between cases and controls. Effects of interactions between gene polymorphisms and smoking and between gene polymorphisms and drinking on the risk of MetS were also determined.RESULTS: The T-786C TC+CC genotype was significantly associated with a decreased risk of MetS (odds ratio (OR), 0.63; 95% confidence interval (CI), 0.43–0.91), compared to the T-786C TT genotype, according to a logistic regression analysis. This beneficial effect was much greater for those who had ever smoked cigarettes (OR, 0.47; 95% CI, 0.26–0.87) or those who had not consumed alcohol (OR, 0.45; 95% CI, 0.26–0.77). In addition, the intron 4b/a variant genotype was marginally associated with a reduced risk of MetS (OR, 0.68; 95% CI, 0.47–1.00), compared to the intron 4b/a bb genotype, particularly for never alcohol consumers (OR, 0.56; 95% CI, 0.33–0.95). In the haplotype analysis, there was a 53% decrease in the MetS risk among C4bG haplotype carriers (OR, 0.47; 95% CI, 0.25–0.90), compared to those with the most common T4bG haplotype.CONCLUSIONS: Our results suggest that theNOS3T-786C and intron 4b/a polymorphisms may contribute to the risk of MetS. Further studies are needed to confirm the findings.

scholarly journals No Association ofIFNG+874T/ASNP andNOS2A-954G/CSNP Variants with Nitric Oxide Radical Serum Levels or Susceptibility to Tuberculosis in a Brazilian Population Subset

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Ana Cristina C. S. Leandro ◽  
Márcia Andrade Rocha ◽  
Andreia Lamoglia-Souza ◽  
John L. VandeBerg ◽  
Valeria Cavalcanti Rolla ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Serum Levels ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Nitric Oxide Radical ◽  
Study Population ◽  
Host Genetic ◽  
Nitric Oxide Synthase 2 ◽  
Oxide Synthase ◽  
Control Study

Tuberculosis (TB) is one of the most common infectious diseases in the world.Mycobacterium tuberculosisinfection leads to pulmonary active disease in approximately 5–10% of exposed individuals. Both bacteria- and host-related characteristics influence latent infection and disease. Host genetic predisposition to develop TB may involve multiple genes and their polymorphisms. It was reported previously that interferon gamma (IFN-γ) and nitric oxide synthase 2 (NOS2) are expressed on alveolar macrophages from TB patients and are responsible for bacilli control; thus, we aimed this study at genotyping single nucleotide polymorphismsIFNG+874T/ASNP andNOS2A-954G/CSNP to estimate their role on TB susceptibility and determine whether these polymorphisms influence serum nitrite andNOx-production. This case-control study enrolled 172 TB patients and 179 healthy controls. Neither polymorphism was associated with susceptibility to TB.NOS2A-954G/CSNP was not associated with serum levels of nitrite andNOx-. These results indicate that variants ofIFNG+874T/ASNP andNOS2A-954G/CSNP do not influence TB susceptibility or the secretion of nitric oxide radicals in the study population.

scholarly journals Influence of COL9A1 and COL19A1 Polymorphisms on Kaschin-Beck Disease Risk

2020 ◽  
Author(s):  
Xue He ◽  
Jianwen Zheng ◽  
Dongya Yuan ◽  
Yuhe Wang ◽  
Yongjun He ◽  
...  
Keyword(s):  
Haplotype Analysis ◽  
Disease Risk ◽  
Recessive Model ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Frequency Distributions ◽  
Logistic Regression Models ◽  
False Discovery ◽  
Beck Disease

Abstract Objective: We aimed to determine whether COL9A1 and COL19A1 polymorphisms were associated with Kaschin-Beck disease (KBD) risk. Methods: Five single nucleotide polymorphisms (SNPs) in COL9A1 and COL19A1 were genotyped in 316 KBD patients and 320 healthy controls. The correlation between genetic polymorphisms and KBD risk were assessed using logistic regression models by calculating odds ratio (OR) and 95% confidence interval (CI). Results: After adjustment with age and sex, the frequency distributions of genotypes in rs3806093 and rs9346371 were significantly different between cases and controls. COL9A1 rs3806093 significantly increased KBD risk in co-dominant (OR = 14.80, p = 0.024) and recessive (OR = 16.39, p = 0.019) models. Meanwhile, COL9A1 rs555313 was associated with KBD risk in recessive model (OR = 3.80, p = 0.048). However, no strong relationships were observed after false discovery rate correction. In addition, haplotype analysis revealed two blocks (block 1: rs3806093, rs603410 and rs621347; block 2: rs9346371 and rs555313). Conclusion: COL9A1 and COL19A1 polymorphisms were associated with KBD risk in the Chinese Han population, suggesting roles of COL9A1 and COL19A1 in the development of KBD.

scholarly journals Influence of COL9A1 and COL19A1 Polymorphisms on Kaschin-Beck Disease Risk

2020 ◽  
Author(s):  
Xue He ◽  
Jianwen Zheng ◽  
Dongya Yuan ◽  
Yuhe Wang ◽  
Yongjun He ◽  
...  
Keyword(s):  
Odds Ratio ◽  
Logistic Regression Model ◽  
Haplotype Analysis ◽  
Disease Risk ◽  
Recessive Model ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Frequency Distributions ◽  
Beck Disease

Abstract Objective We aimed to determine whether COL9A1 and COL19A1 polymorphisms were associated with Kaschin-Beck disease (KBD) risk. Methods Five single nucleotide polymorphisms (SNPs) in COL9A1 and COL19A1 were genotyped in 316 KBD patients and 320 healthy controls using the Agena MassARRAY platform. The association between genetic polymorphisms ( COL9A1 : rs3806093, rs603410 and rs621347; COL19A1 : rs9346371 and rs555313) and KBD risk were assessed using logistic regression model by calculating odds ratio (OR) and 95% confidence interval (CI). Results After adjustment with age and sex, the frequency distributions of genotypes in rs3806093 and rs9346371 were significantly different between cases and controls. COL9A1 rs3806093 significantly increased KBD risk in co-dominant (OR = 14.80, 95%CI = 1.42-154.80, p = 0.024) and recessive (OR = 16.39, 95%CI = 1.60-168.20, p = 0.019) models. Meanwhile, COL9A1 rs555313 was associated with KBD risk in recessive model (OR = 3.80, 95%CI = 1.01-14.27, p = 0.048). In addition, haplotype analysis revealed two blocks (block 1: rs3806093, rs603410 and rs621347; block 2: rs9346371 and rs555313). Conclusion COL9A1 and COL19A1 polymorphisms were associated with KBD risk in the Chinese Han population, suggesting roles of COL9A1 and COL19A1 in the development of KBD.

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 Association of NLRP1 and NLRP3 Polymorphisms with Psoriasis Vulgaris Risk in the Chinese Han Population

2018 ◽  
Vol 2018 ◽  
pp. 1-8 ◽  
Author(s):  
Pei Yu ◽  
Siyu Hao ◽  
Hewei Zheng ◽  
Xueying Zhao ◽  
Yuzhen Li
Keyword(s):  
Psoriasis Vulgaris ◽  
Recessive Model ◽  
Chinese Han Population ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Ligation Detection Reaction ◽  
Control Study

Aim. To clarify the association between the single nucleotide polymorphisms (SNPs) in the NLRP1 and NLRP3 and Psoriasis Vulgaris (PsV) in the Chinese Han population. Methods. We genotyped eight SNPs, four from NLRP1 (rs8079034, rs11651270, rs11657747, and rs878329) and NLRP3 (rs7512998, rs3806265, rs10754557, and rs10733113) each in 540 patients with PsV and 612 healthy controls in the Chinese Han population using an improved multiplexed ligation detection reaction (iMLDR) method. The genotype and haplotype frequencies were analyzed using a case-control study design. Results. We identified two SNPs, rs3806265 and rs10754557, in NLRP3 that were significantly associated with PsV. The genotype distribution of the rs3806265 SNP was significantly different between cases and controls (p=0.0451; OR = 0.791; 95% CI = 0.627–0.998). In the recessive model, the genotype distribution of the rs10754557 SNP was significantly different between cases and controls (p=0.0344; OR = 1.277; 95% CI = 0.987–1.652). The haplotype analysis of rs3806265 and rs10754557 also presented a significant association of TA haplotype with PsV (χ2=4.529; p=0.033). Conclusion. NLRP3 may play a role in PsV susceptibility in the Chinese Han population.

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 Single-Nucleotide Polymorphisms in Oxidative Stress-Related Genes and the Risk of a Stroke in a Polish Population—A Preliminary Study

2021 ◽  
Vol 11 (3) ◽  
pp. 391
Author(s):  
Ewelina Synowiec ◽  
Paulina Wigner ◽  
Natalia Cichon ◽  
Cezary Watala ◽  
Piotr Czarny ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Single Nucleotide Polymorphisms ◽  
Polish Population ◽  
Nucleotide Polymorphisms ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Potential Association ◽  
Stress Related Genes ◽  
Control Study

The present preliminary case-control study was undertaken to detect the potential association of six single nucleotide polymorphisms (SNPs) in oxidative stress-related genes: SOD2 (c.47T > C; rs4880), CAT (c.-89A > T; rs7943316), GPX4 (c.660T > A; rs713041), NOS1 (g.117803515C > T; rs1879417) and NOS2 (c.1823C > T; rs2297518 and c.-227G > C; rs10459953) and the occurrence of a stroke. The SNPs were determined using the TaqMan® Allelic Discrimination Assay in 107 patients with strokes and 107 age- and sex-matched individuals who had not experienced cerebrovascular accidents. The T alleles of the rs4880 were positively correlated with a stroke (bootstrap OR 1.31; 1.07–1.59 95% CI). In the case of the rs713041, an association with the T allele was found (bootstrap OR 1.36; 1.12–1.67). In addition, the occurrence of a stroke was associated with the presence of the C allele of the rs1879417 (bootstrap OR 1.32; 1.09–1.61). We also found that the C/C genotype and C allele of the rs2297518 increased the risk of a stroke (bootstrap ORs 7.00; 4.34–11.29 and 4.96; 3.88–6.34, respectively). Moreover, the C allele of the rs10459953 was associated with an increased occurrence of this disease (bootstrap OR 1.31; 1.08–1.60). These results indicated that genetics variants in the SOD2, GPX4, NOS1 and NOS2 might be associated with susceptibility to strokes in the Polish population.

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