Expression of the α-tocopherol transfer protein gene is regulated by oxidative stress and common single-nucleotide polymorphisms

Chronic obstructive pulmonary disease (COPD) is characterized by irreversible airflow obstruction and is associated with chronic local and systemic inflammation and oxidative stress. The enhanced oxidative stress and inflammation have been reported to affect telomere length (TL). Furthermore, a number of SNPs at loci encoding the main components of the telomerase genes, TERT and TERC have been shown to correlate with TL. We aimed to explore the leukocyte TL and genotypes for single nucleotide polymorphisms, rs12696304 (C > G) and rs10936599 (C > T) near TERC in COPD cases and matched healthy controls using q-PCR technologies. Successful assessment of TL was performed for 91 patients and 88 controls. The patients had shorter TL (17919.36 ± 1203.01 bp) compared to controls (21 271.48 ± 1891.36 bp) although not significant (p = 0.137). The TL did not associate with the gender, age, spirometric indexes, smoking habits but tended to correlate negatively with BMI (Rho = − 0.215, p = 0.076) in the controls, but not in COPD patients. The genotype frequencies of the SNPs rs12696304 and rs10936599 were compared between patients and controls and the odds ratios (OR) for developing COPD were calculated. The carriers of the common homozygous (CC) genotypes of the SNPs had higher risk for COPD, compared to carriers of the variants alleles (rs12696304 CG+GG vs. CC; OR: 0.615, 95% CI [0.424–0.894], p = 0.011 and for rs10936599 CT+TT vs. CC OR = 0.668, 95% CI [0.457–0.976], p = 0.044). Analysis on the combined effects of the TERC rs12696304 (C > G) and rs10936599 (C > T) genotypes, CC/CC genotype combination was associated with higher risk for COPD (p < 0.0001) and marginally lower FEV1% pr. in patients with GOLD II (p = 0.052). There was no association between the SNP genotypes and TL. In summary, our results suggest that COPD patients may have shorter TL, and rs12696304 and rs10936599 near TERC may affect the risk of COPD independently of TL.

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Association of molecular genetic markers and oxidative stress indices in workers in contact with asbestos dust

Russian Journal of Occupational Health and Industrial Ecology ◽

10.31089/1026-9428-2019-59-9-560-561 ◽

2020 ◽

pp. 560-560

Author(s):

L. M. Bezrukavnikova ◽

N. N. Anokhin ◽

E. S. Tsidilkovskaya

Keyword(s):

Oxidative Stress ◽

Lipid Peroxidation ◽

Single Nucleotide Polymorphisms ◽

Genetic Markers ◽

Molecular Genetic ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Stress Indices ◽

Molecular Genetic Markers ◽

And Oxidative Stress

The studied single-nucleotide polymorphisms EPHX1 (rs1051740), SAD2 (rs4880), MP9 (rs17576) in persons exposed to asbestos dust are associated with elevated levels of lipid peroxidation catabolites, which confirms their significance in the development of asbestos-related bronchopulmonary pathology.

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Coagulopathy in Type 2 Diabetes Mellitus: Pathological Mechanisms and the Role of Factor XIII-A Single Nucleotide Polymorphisms

Current Diabetes Reviews ◽

10.2174/1573399815666190130113328 ◽

2019 ◽

Vol 15 (6) ◽

pp. 446-455

Author(s):

Marry-ann Ntanyane Phasha ◽

Prashilla Soma ◽

Etheresia Pretorius ◽

Alia Phulukdaree

Keyword(s):

Oxidative Stress ◽

Diabetes Mellitus ◽

Type 2 Diabetes ◽

Type 2 Diabetes Mellitus ◽

Single Nucleotide Polymorphisms ◽

Factor Xiii ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Underlying Mechanisms

The prevalence of type 2 diabetes mellitus (T2DM) has quadrupled within three decades since 1980, affecting 422 million adults in 2016. It remains one of the most common noncommunicable chronic diseases and the underlying risk factor for cardiovascular diseases worldwide. There are different underlying mechanisms that play a role in the development of pathologies associated with the disease such as hyperglycaemia, oxidative stress, obesity, inflammation and hypercoagulation; each of which are interlinked. Hyperglycaemia, oxidative stress and obesity play a huge role in the activation of inflammation and coagulation. Activation of inflammatory pathways increases the production of thrombin which predisposes the development of thrombotic related diseases. One of the factors that contribute to the increase of thrombin is the impairment of the fibrinolysis process due to decreased expression of tissue-plasminogen activator (tPA) by increased levels of plasminogen activator inhibitor-1 (PAI-1). Coagulation factor XIII (FXIII), a transglutaminase that is composed of subunits A and B (FXIII-A2B2), is essential for the last step of fibrin clot formation in the coagulation pathway. Genetic variation of FXIII-A in the form of single nucleotide polymorphisms (SNPs) alters the activity of FXIII, altering clot properties which influence disease outcomes. This review discusses the link between underlying mechanisms of T2DM, well known FXIII-A variants and coagulation.

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SINGLE NUCLEOTIDE POLYMORPHISMS IN CHOLESTERYL ESTER TRANSFER PROTEIN (CETP) GENE ARE NOT ASSOCIATED WITH RECURRENT CARDIOVASCULAR EVENTS OR MORTALITY IN PATIENTS WITH ESTABLISHED ATHEROSCLEROSIS: A MENDELIAN RANDOMIZATION EXPERIMENT

Journal of the American College of Cardiology ◽

10.1016/s0735-1097(13)61391-1 ◽

2013 ◽

Vol 61 (10) ◽

pp. E1391 ◽

Cited By ~ 1

Author(s):

Salim S. Virani ◽

Vei-Vei Lee ◽

Ariel Brautbar ◽

Megan Gove-Goana ◽

Vijay Nambi ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Cholesteryl Ester ◽

Cholesteryl Ester Transfer Protein ◽

Cardiovascular Events ◽

Mendelian Randomization ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Transfer Protein

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Identification of single nucleotide polymorphisms in the prion protein gene in Santa Ines and Dorset sheep

Pesquisa Veterinária Brasileira ◽

10.1590/1678-5150-pvb-5365 ◽

2018 ◽

Vol 38 (4) ◽

pp. 624-628

Author(s):

Caroline P. Andrade ◽

José D. Barbosa Neto ◽

David Driemeier

Keyword(s):

Single Nucleotide Polymorphisms ◽

Prion Protein ◽

Protein Gene ◽

Risk Group ◽

Prion Protein Gene ◽

Nucleotide Polymorphisms ◽

Moderate Risk ◽

Single Nucleotide ◽

Group 3 ◽

Santa Inês

ABSTRACT: Scrapie is a transmissible spongiform encephalopathy (TSE) that affects sheep and goats and results from accumulation of the abnormal isoform of a prion protein in the central nervous system. Resistance or susceptibility to the disease is dependent on several factors, including the strain of infecting agent, the degree of exposure, and the presence of single nucleotide polymorphisms (SNPs) in the prion protein gene. The most important polymorphisms are present in codons 136, 154, and 171. SNPs have also been identified in other codons, such as 118, 127, 141, 142, and 143. The objective of this study was to investigate the genotypic profile of Santa Ines (n=94) and Dorset (n=69) sheep and identify polymorphisms in the prion protein gene using real-time PCR techniques and sequencing. We analyzed SNPs in 10 different codons (127, 136, 138, 140, 141, 142, 143, 154, 171, and 172) in Santa Ines sheep. Classification of the flock into risk groups associated with scrapie revealed that approximately 68% of the Santa Ines herd was considered at moderate risk (group 3), and the most frequent haplotype was ARQ/ARQ (47.8%). For Dorset sheep, 42% of the herd was considered at moderate risk (group 3), 40% at low risk (group 2), and 12% at very low risk (group 1). These findings improve our understanding of the genotype breed and further highlight the importance of genotyping and identification of polymorphisms in Brazilian herds to assess their effects on potential infections upon exposure to the sheep prion.

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