scholarly journals Association of Cystathionine β-Synthase Gene Polymorphisms With Preeclampsia

2018 ◽  
Vol 24 (9_suppl) ◽  
pp. 285S-293S ◽  
Author(s):  
Mercedes Piedad de León Bautista ◽  
Mirza Romero-Valdovinos ◽  
Beatriz Zavaleta-Villa ◽  
Arony Martínez-Flores ◽  
Angélica Olivo-Díaz
Keyword(s):  
Risk Factor ◽  
Cardiovascular Diseases ◽  
Base Pair ◽  
Gene Polymorphisms ◽  
Case Control Study ◽  
High Plasma ◽  
Case Control ◽  
Related Factor ◽  
Mexican Women ◽  
Control Study

Preeclampsia (PE) is a pregnancy disorder that increases maternal and fetal morbidity and mortality worldwide. High plasma levels of homocysteine (Hcy) are a risk factor for several cardiovascular diseases. Cystathionine β-synthase (CBS) plays an important role in Hcy homeostasis catalyzing the irreversible degradation of Hcy to cystathionine, protecting the endothelium from injury caused by hypoxia. Several mutations and polymorphisms may alter the expression of the CBS gene, resulting in variable levels of Hcy. The purpose of this study was to investigate the association of CBS gene polymorphisms with PE in Mexican women. A case–control study consisting of 129 pregnant women with PE (37 severe and 92 mild) and 173 women with uncomplicated pregnancies was performed. Polymorphisms, such as G797A, C785T, T833C, G919A, T959C, C1105T, and 844ins68 base pair, in the CBS gene were genotyped. The polymorphism G797A was monomorphic in cases with the presence of only G797A-G allele. Allele C785T-T and genotype C785T-C/T were associated with susceptibility in severe and mild PE. Alleles G797A-G and T959C-T were associated with susceptibility only in severe PE. Haplotype TGTWGTC was of susceptibility for severe PE and of protection for mild PE. Haplotypes CGTWGCC and CATWGTC seem to be protective for severe PE, but the latter is related to susceptibility in mild PE. The results suggest that C785T, G797A, and T959C mutations are contributing in different ways in severe and mild PE in our population and could be count as another related factor for this disease.

scholarly journals Genetic association of TOLLIP gene polymorphisms and HIV infection: a case-control study

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ming-Gui Wang ◽  
Jing Wang ◽  
Jian-Qing He
Keyword(s):  
Hiv Infection ◽  
Gene Polymorphisms ◽  
Case Control Study ◽  
Binary Logistic Regression ◽  
Case Control ◽  
Additive Models ◽  
Chinese Han ◽  
Interacting Protein ◽  
Control Study ◽  
Age And Sex

Abstract Background Previous studies have indicated that host genetic factors play an essential role in immunity to human immunodeficiency virus (HIV) infection. We aimed to investigate the association between the toll-interacting protein (TOLLIP) and mannose-binding lectin 2 (MBL2) genes and HIV infection susceptibility among Chinese Han patients. Methods This is a case-control study. A total of 435 HIV-infected patients and 1013 seronegative healthy individuals were recruited. DNA was extracted from whole blood. Two SNPs in the MBL2 gene (rs7096206 and rs1800450) and three SNPs in the TOLLIP gene (rs5743899, rs3750920, and rs5743867) were selected and genotyped using a SNPscan Kit (Cat#: G0104, Genesky Biotechnologies Inc., Shanghai, China). Odds ratios (ORs) and their 95% confidence intervals (CIs) were calculated using unconditional binary logistic regression. Results A significant association between the minor alleles rs5743899 (C allele) and rs5743867 (G allele) in the TOLLIP gene and susceptibility to HIV infection was found in this study after adjusting for age and sex (Pa = 0.011 and < 0.001, respectively). The rs5743867 in the TOLLIP gene was significantly associated with the risk of HIV infection in dominant, recessive, and additive models when adjusted for age and sex (Pa < 0.05). No significant association was found between MBL2 gene polymorphisms and HIV infection. Conclusion Our study found a statistically significant association between the two SNPs (rs5743867 and rs5743899) in the TOLLIP gene and susceptibility to HIV infection in a Chinese Han population.

scholarly journals SAT0077 CARDIOVASCULAR RISK ASSESSMENT WITH CAROTID ULTRASONOGRAPHY IN ADDITION TO THE TRADITIONAL CARDIOVASCULAR RISK FACTORS IN RHEUMATOID ARTHRITIS PATIENTS: A CASE CONTROL STUDY

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 973-973
Author(s):  
R. Gonzalez Mazario ◽  
J. J. Fragio-Gil ◽  
P. Martinez Calabuig ◽  
E. Grau García ◽  
M. De la Rubia Navarro ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Risk Factors ◽  
Risk Factor ◽  
Cardiovascular Risk ◽  
Disease Duration ◽  
Case Control Study ◽  
Case Control ◽  
Healthy Controls ◽  
Carotid Ultrasonography ◽  
Control Study

Background:Cardiovascular disease (CV) is the most frequent cause of death in rheumatoid arthritis (RA) patients. It is well known that RA acts as an independent cardiovascular risk factor.Objectives:To assess the CV risk in RA patients using carotid ultrasonography (US) additionally to the traditional CV risk factors.Methods:A prospective transversal case control study was performed, including adult RA patients who fulfilled ACR/EULAR 2010 criteria and healthy controls matched according to CV risk factors. Population over 75 years old, patients with established CV disease and/or chronic kidney failure (from III stage) were excluded. The US evaluator was blinded to the case/control condition and evaluated the presence of plaques and the intima-media thickness. Statistical analysis was performed with R (3.6.1 version) and included a multivariate variance analysis (MANOVA) and a negative binomial regression adjusted by confounding factors (age, sex and CV risk factors).Results:A total of 200 cases and 111 healthy controls were included in the study. Demographical, clinical and US data are exposed in table 1. Not any difference was detected in terms of CV risk factors between the cases and controls. In both groups a relationship between age, BMI and high blood pressure was detected (p<0.001).Table 1.Table 2.RA basal characteristicsDisease duration (years)16,98 (11,38)Erosions (X-Ray of hands/feet)163 (81,5%)Seropositive (RF/anti-CCP)146 (73%)Extra-articular symptoms44 (22%)Intersticial difusse lung disease10 (5%)Rheumatoid nodules14 (7%)Prednisone use103 (51,5%)Median dose of Prednisone last year (mg)2,34 (2,84)sDMARDsMethotrexate104 (52%)Leflunomide29 (14,5%)Hydroxycloroquine9 (4,5%)bDMARDs89 (44,5%) TNFi41 (20,5%) Abatacept15 (7,5%) IL6i22 (11%) RTX11 (5,5%)JAKi26 (13%) Baricitinib11 (5,5%) Tofacitinib15 (7,5%)DAS 28-ESR3,1 (2,3, 3,9)SDAI7,85 (4,04, 13,41)HAQ0,88 (0,22, 1,5)RF (U/mL)51 (15, 164,25)Anti-CCP (U/mL)173 (22, 340)Patients showed higher intima-media (both right and left) thickness compared to controls (p<0.006). Moreover it was also related to the disease duration and DAS28 score (p<0.001). A higher plaque account was noted in cases(p<0.004) and it was also related to the disease duration (p<0.001).Conclusion:RA implies a higher CV risk. Traditional CV risk factors explains only partially the global risk. These findings support that RA acts as an independent cardiovascular risk factor.Disclosure of Interests:None declared

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