scholarly journals Genetic Variants rs1049255 CYBA and rs2333227 MPO are Associated with Susceptibility to Coronary Artery Disease in Russian Residents of Central Russia

Kardiologiia ◽  
2020 ◽  
Vol 60 (10) ◽  
pp. 47-54
Author(s):  
O. Yu. Bushueva
Keyword(s):  
Protective Effect ◽  
Nucleotide Polymorphisms ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Central Russia ◽  
Specific Effects ◽  
Additive Regression Model ◽  
Study Association ◽  
Artery Disease ◽  
Additive Regression

Aim      To study association of single-nucleotide polymorphisms rs1049255 CYBA and rs2333227 MPO with development of ischemic heart disease (IHD) in Russian residents of Central Russia.Material and methods  The study material was DNA samples from 436 patients with IHD (265 men, 171 women; mean age, 61 years) and 370 sex- and age-matched arbitrarily healthy volunteers (209 men, 161 women; mean age, 60 years). Genotyping was performed by allelic discrimination with TaqMan probes.Results Comparative analysis of genotype frequency (log-additive regression model) showed that SNP rs1049255 CYBA (odds ratio, OR, 0.79 at 95 % confidence interval, CI, from 0.65 to 0.96; p=0.02) and rs2333227 MPO (OR 0.72 at 95 % CI from 0.55 to 0.95; p=0.02) were associated with a decreased risk of IHD adjusted for sex and age. Analysis of sex-specific effects showed that the protective effect of rs1049255 CYBA was evident only in men (OR 0.72 at 95 % CI from 0.55 to 0.94; p=0.16).Conclusion      The study demonstrated a protective effect of rs1049255 CYBA and rs2333227 MPO with respect of IHD in Russians. The protective effect of rs1049255 CYBA was observed only in men.

Analysis of the involvement of single nucleotide polymorphisms of redox-homeostasis genes in the development of isolated and comorbid cardioand cerebrovascular diseases

2020 ◽  
pp. 37-49
Author(s):  
О.Ю. Бушуева
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Redox Homeostasis ◽  
Total Sample ◽  
Cerebrovascular Diseases ◽  
Cerebral Stroke ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Gender And Age ◽  
Additive Regression Model ◽  
Additive Regression

Распространенные и зачастую сочетающиеся кардио- и цереброваскулярные заболевания (КЦВЗ), включающие артериальную гипертензию (АГ), ишемическую болезнь сердца (ИБС) и мозговой инсульт (МИ), представляют собой основную причину смертности во всем мире. Окислительный стресс имеет множество патологических эффектов на сосудистый гомеостаз и в настоящее время рассматривается как один из общих механизмов развития КЦВЗ. Целью исследования было изучение ассоциации однонуклеотидных полиморфизмов генов редокс-гомеостаза rs2070424 SOD1, rs4880 SOD2, rs769214 CAT, rs713041 GPX4, rs41303970 GCLM, rs17883901 GCLC, rs854560 PON1, rs7493 PON2, rs1695 GSTP1, rs2266782 FMO3 с развитием изолированных и сочетанных форм КЦВЗ. Материалом для исследования послужила выборка неродственных индивидов славянского происхождения, общей численностью 2702 человека. В исследование вошли 1815 пациентов с различными кардио- и цереброваскулярными заболеваниями и их сочетаниями: с изолированной АГ (иАГ), с изолированной ишемической болезнью сердца (иИБС), с сочетанием АГ и ИБС (АГ+ИБС), с мозговым инсультом (МИ) на фоне АГ (АГ+МИ); с коморбидной кардио- и цереброваскулярной патологией (АГ+ИБС+МИ). Из общей выборки здоровых лиц (N=887) были сформированы 5 контрольных групп, соответствующих по полу и возрасту каждой из групп нозологических форм заболеваний. Генотипирование SNP проводили методом ПЦР в режиме реального времени путем дискриминации аллелей с помощью TaqMan-зондов. Для анализа ассоциаций генотипов с развитием заболеваний пользовались лог-аддитивной регрессионной моделью. Все расчеты выполнены относительно минорного аллеля; введены поправки на пол и возраст. SNP rs1695 GSTP1 был связан исключительно с развитием иАГ (OR=1,19, 95%CI=1,01-1,39, р=0,034). SNP rs7493 PON2 был связан с развитием всех исследованных коморбидных кардио- и цереброваскулярных заболеваний: АГ+ИБС (adjOR=1,32, adj95%CI=1,07-1,63, adjp=0,01); АГ+МИ (adjOR=1,79, adj95%CI=1,45-2,21, adjp<0,0001); АГ+ИБС+МИ (adjOR=1,51, adj95%CI=1,09-2,09, adjp=0,01), а также с укорочением протромбинового времени (adjDifference=-0,35; adjp=0,01). SNP rs2266782 FMO3 был связан с фенотипом АГ+МИ (adjOR=1,24, adj95%CI=1,02-1,51, adjp=0,03), а также снижал возраст манифестации МИ (adjDifference=-2,31; adjp=0,03). Таким образом, установлено, что однонуклеотидные полиморфизмы генов редокс-гомеостаза могут представлять важную генетическую компоненту формирования дифференцированности кардио- и цереброваскулярных фенотипов. Common and often comorbid cardio- and cerebrovascular diseases (CCVD), including arterial hypertension (AH), coronary heart disease (CHD), and cerebral stroke (CS), are the leading cause of death worldwide. Oxidative stress has many pathological effects on vascular homeostasis and is currently regarded as one of the common mechanisms for the development of CCVD. The aim of our study was to investigate the association of single nucleotide polymorphisms of the redox-homeostasis genes rs2070424 SOD1, rs4880 SOD2, rs769214 CAT, rs713041 GPX4, rs41303970 GCLM, rs17883901 GCLC, rs854560 PON1, rs7493 PON2, rs1695 GSTP1, rs2266782 FMO3 with the development of isolated and comorbid CCVD. A total 2702 individuals of Slavic origin were included for this study. The patients group included 1815 subjects with various CCVD and their combinations: isolated AH (IAH); isolated IHD (IIHD), combination of AH and IHD (AH+IHD); combination of AH and CS (AH+CS); comorbid cardio- and cerebrovascular pathology (AH+IHD+CS). From the total sample of healthy individuals (N=887), 5 sex- and age-matched control groups were formed. Genotyping was performed using TaqMan-based PCR. To analyze the associations of genotypes with the risk of diseases, a log-additive regression model was used. All calculations were performed relative to the minor allele; corrections for gender and age have been introduced. SNP rs1695 GSTP1 was associated with IAH exclusively (OR=1.19, 95%CI=1.01-1.39, P=0.034). SNP rs7493 PON2 was associated with the development of all studied comorbid CCVD: AH+IHD (adjOR=1.32, adj95%CI=1.07-1.63, adjP=0.01); AH+CS (adjOR=1.79, adj95%CI=1.45-2.21, adjP<0.0001); AH+IHD+CS (adjOR=1.51, adj95%CI=1.09-2.09, adjP=0.01), as well as shortening of prothrombin time (adjDifference=-0.35; adjP=0.01). SNP rs2266782 FMO3 was associated with the development of AH+CS (adjOR=1.24, adj95%CI=1.02-1.51, adjP=0.03), as well as decreased age of manifestation of CS (adjDifference=-2.31; adjP=0.03). Thus, it was found that genes involved in regulation of redox-homeostasis, can represent an important genetic component in the formation of differentiation of cardio- and cerebrovascular phenotypes.

scholarly journals Biomarkers for Lifetime Caries-Free Status

2020 ◽  
Vol 11 (1) ◽  
pp. 23
Author(s):  
Ariana M. Kelly ◽  
Mariana Bezamat ◽  
Adriana Modesto ◽  
Alexandre R. Vieira
Keyword(s):  
Genetic Variation ◽  
Dental Caries ◽  
Protective Effect ◽  
Permanent Teeth ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Interacting Protein ◽  
Mandibular Molars ◽  
Matrix Metallopeptidase ◽  
Free Status

The purpose of this study was to address the hypothesis that extreme outcomes of dental caries, such as edentulism or prematurely losing permanent teeth are associated with genetic variation in enamel-formation genes. After scanning 6206 individuals, samples of 330 were selected for this study. Tested phenotypes included patients who were edentulous by age 30, patients with missing first molars by age 30, patients with missing second molars by age 30, and caries-free patients. Fourteen single nucleotide polymorphisms were genotyped by TaqMan chemistry. The analyses of each phenotype were performed using the software PLINK with an alpha of 0.05. Nominal associations were found between rs12640848 in enamelin (p = 0.05), rs1784418 in matrix metallopeptidase 20 (p = 0.02), and rs5997096 in the tuftelin interacting protein 11 and being caries-free at the age of 60. When combining patients that were missing both first mandibular molars and missing both second mandibular molars, no associations were found. Matrix metallopeptidase 20, and tuftelin interacting protein 11 also showed trends for association with being caries-free. Genetic variation in TFIP11, MMP20, and ENAM may have a protective effect increasing the chances of individuals preserving their teeth caries-free over a lifetime.

scholarly journals Single Nucleotide Polymorphisms of Indoleamine 2,3-Dioxygenase 1 Influenced the Age Onset of Parkinson’s Disease

2020 ◽  
Author(s):  
Nóra Török ◽  
Rita Maszlag-Török ◽  
Kinga Molnár ◽  
Zoltán Szolnoki ◽  
Ferenc Somogyvári ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Subgroup Analysis ◽  
Snp Analysis ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Indoleamine 2,3 Dioxygenase ◽  
Tryptophan Dioxygenase

Earlier studies reported alterations of the kynurenine (KYN) pathway of tryptophan (TRP) metabolism in Parkinson&rsquo;s disease (PD). The first rate-limiting enzymes indoleamine 2,3-dioxygenase (IDO) and tryptophan dioxygenase were observed upregulated, resulting elevated KYN/TRP ratios in the serum and cerebrospinal fluid samples of patients with PD. An increasing number of single nucleotide polymorphisms (SNPs) have been identified in a population of PD. However, little is known if genetic variations of the IDO contribute to disturbance of the KYN metabolism in and the pathogenesis of PD. SNP analysis of IDO1 was performed by allelic discrimination assay with fluorescently labelled TaqMan probes and a subgroup analysis was conducted according to the age of PD onset. The frame shifts variant rs34155785, intronic variant rs7820268, and promotor region variant rs9657182 SNPs of 105 PD patients without comorbidity were analyzed and compared to 129 healthy controls. No significant correlation was found in three SNPs between PD patients and healthy controls. However, the subgroup analysis revealed that A alleles of rs7820268 SNP or rs9657182 SNP carriers contribute to later onset of PD than non-carriers. The study suggested that SNPs of IDO1 influenced the age onset of PD and genotyping of SNPs in certain alleles potentially serves as a risk biomarker of PD.

scholarly journals ADIPOQ single nucleotide polymorphisms and breast cancer in northeastern Mexican women

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Ricardo M. Cerda-Flores ◽  
Karen Paola Camarillo-Cárdenas ◽  
Gabriela Gutiérrez-Orozco ◽  
Mónica Patricia Villarreal-Vela ◽  
Raquel Garza-Guajardo ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Mexican Women ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Significant Difference ◽  
Hardy Weinberg Equilibrium

Abstract Background Adiponectin gene (ADIPOQ) polymorphisms have been shown to affect adiponectin serum concentration and some have been associated with breast cancer (BC) risk. The aims of this study were to describe the frequency of single nucleotide polymorphisms (SNPs) of ADIPOQ in Mexican women with BC and to determine if they show an association with it. Methods DNA samples from 397 patients and 355 controls were tested for the ADIPOQ gene SNPs: rs2241766 (GT) and rs1501299 (GT) by TaqMan allelic discrimination assay. Hardy–Weinberg equilibrium (HWE) was tested. Multiple SNP inheritance models adjusted by age and body mass index (BMI) were examined for the SNP rs1501299. Results We found that in the frequency analysis of rs1501299 without adjusting the BMI and age, the genotype distribution had a statistically significant difference (P = 0.003). The T allele was associated with a BC risk (OR, 1.99; 95% CI 1.13–3.51, TT vs. GG; OR, 1.53; 95% CI 1.12–2.09, GT vs. GG). The SNP rs2241766 was in HW disequilibrium in controls. In conclusion, the rs1501299 polymorphism is associated with a BC risk. Conclusions Identification of the genotype of these polymorphisms in patients with BC can contribute to integrate the risk profile in both patients and their relatives as part of a comprehensive approach and increasingly more personalized medicine.

scholarly journals Genetic variants in humanin nuclear isoform gene regions show no association with coronary artery disease

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Mall Eltermaa ◽  
Maili Jakobson ◽  
Meeme Utt ◽  
Sulev Kõks ◽  
Reedik Mägi ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Multiple Testing ◽  
Meta Analysis ◽  
Noncommunicable Disease ◽  
P Value ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Artery Disease ◽  
Preventive Methods

Abstract Objective Coronary artery disease contributes to noncommunicable disease deaths worldwide. In order to make preventive methods more accurate, we need to know more about the development and progress of this pathology, including the genetic aspects. Humanin is a small peptide known for its cytoprotective and anti-apoptotic properties. Our study looked for genomic associations between humanin-like nuclear isoform genes and coronary artery disease using CARDIoGRAMplusC4D Consortium data. Results Lookup from meta-analysis datasets gave single nucleotide polymorphisms in all 13 humanin-like nuclear isoform genes with the lowest P value for rs6151662 from the MTRNR2L2 gene including the 50 kb flanking region in both directions (P-value = 0.0037). Within the gene region alone the top variant was rs78083998 from the MTRNR2L13 region (meta-analysis P-value = 0.042). None of the found associations were statistically significant after correction for multiple testing. Lookup for expression trait loci in these gene regions gave no statistically significant variants.

scholarly journals Association between a Variant in MicroRNA-646 and the Susceptibility to Hepatocellular Carcinoma in a Large-Scale Population

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Rui Wang ◽  
Jun Zhang ◽  
Weiru Jiang ◽  
Yanyun Ma ◽  
Wenshuai Li ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Single Nucleotide Polymorphisms ◽  
Protective Effect ◽  
Large Scale ◽  
Cancer Development ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Scale Population

Background. Single-nucleotide polymorphisms in microRNAs play important roles in oncogenesis and cancer development.Objective. We aim to explore whether miR-646 rs6513497 is associated with the risk of hepatocellular carcinoma.Methods. Total 997 HCC patients and 993 cancer-free controls were enrolled in this study. Genotyping was performed using MassARRAY method.Results. Compared with the T allele of rs6513497, the G allele was associated with a significantly decreased risk of HCC (OR = 0.788, 95% CI = 0.631–0.985,P= 0.037); moreover, a more protective effect of the G allele was shown in males (OR = 0.695, 95% CI = 0.539–0.897,P= 0.005 in HCC and OR = 0.739, 95% CI = 0.562–0.972,P= 0.030 in HBV-related HCC), basically in a dominant manner (HCC: OR = 0.681, 95% CI = 0.162–0.896,P= 0.006; HBV-related HCC: OR = 0.715, 95% CI = 0.532–0.962,P= 0.027).Conclusions. Our findings support the view that the miR-646 SNP rs6513497 may contribute to the susceptibility of HCC.

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