GLO1 gene polymorphisms and their association with retinitis pigmentosa: a case–control study in a Sicilian population

2018 ◽  
Vol 45 (5) ◽  
pp. 1349-1355 ◽  
Author(s):  
Luigi Donato ◽  
Concetta Scimone ◽  
Giacomo Nicocia ◽  
Lucia Denaro ◽  
Renato Robledo ◽  
...  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ming-Gui Wang ◽  
Jing Wang ◽  
Jian-Qing He

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.


2012 ◽  
Vol 13 (1) ◽  
Author(s):  
Daniel Nilsson ◽  
Anand Kumar Andiappan ◽  
Christer Halldén ◽  
Wang De Yun ◽  
Torbjörn Säll ◽  
...  

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

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.


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