scholarly journals Polymorphism in theVesicular Monoamine Transporter 2Gene Decreases the Risk of Parkinson’s Disease in Han Chinese Men

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Xinglong Yang ◽  
Pingrong Xu ◽  
Quanzhen Zhao ◽  
Ran An ◽  
Hua Jia ◽  
...  
Keyword(s):  
Age At Onset ◽  
Han Chinese ◽  
Italian Population ◽  
Nucleotide Polymorphisms ◽  
Monoamine Transporter ◽  
Single Nucleotide ◽  
Genotype Frequencies ◽  
Gender And Age ◽  
And Gender ◽  
And Control

Background.Polymorphisms rs363371 and rs363324 in thevesicular monoamine transporter 2(VMAT2) gene have been associated with risk of PD in an Italian population, and our aim is to investigate the association between the two single-nucleotide polymorphisms and PD in Han Chinese.Methods.561 Han Chinese PD patients and 491 healthy age- and gender-matched controls were genotyped using Ligase detection reaction (LDR) method.Result.Both of patient and control groups showed similar genotype frequencies between patients and controls at both rs363371 and rs363324, as well as similar minor A allele frequencies at rs363371 (P=0.452) and rs363324 (P=0.413). None of the observed haplotypes showed a significant association with PD. Subgroup analysis by gender and age at onset revealed a significant association between the A allele of rs363371 and PD in Han Chinese males relative to healthy controls (OR 0.799, 95%  CI 0.665 to 0.959,P=0.016), and this association remained significant after adjusting for age (OR 0.785, 95%  CI 0.652 to 0.945,P=0.011).Conclusion.These results suggest that polymorphism ofVMAT2locus is associated with risk of PD in Han Chinese overall but that the A allele at rs363371 may protect against PD in Han Chinese males.

scholarly journals Polymorphisms in genes <i>CTSB, CTSD, CAPN2, KLK1</i> and <i>TGFB1</i> not associated with susceptibility to atypical or classical ovine scrapie

2010 ◽  
Vol 53 (4) ◽  
pp. 457-464
Author(s):  
D. K. Caspari ◽  
A. Balkema-Buschman ◽  
H. R. Brandt ◽  
M. H. Groschup ◽  
G. Erhardt ◽  
...  
Keyword(s):  
Cathepsin B ◽  
Cathepsin D ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Β1 ◽  
Screening Methods ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genotype Frequencies ◽  
Potential Impact ◽  
And Control

Abstract. In the present study polymorphisms in the genes cathepsin B (CTSB), cathepsin D (CTSD), calpain, large polypeptide L2 (CAPN2), kallikrein 1 (KLK1) and transforming growth factor β1 (TGFB1) were investigated for association with scrapie susceptibility in sheep. Therefore single nucleotide polymorphisms in the respective genes were identified and examined for a potential impact on the gene function with different computer programs. Samples of 72 atypical and 104 classical scrapie cases as well as of 443 clinically healthy flock mates were genotyped by PCR-based screening methods. Neither allele frequencies nor genotype frequencies showed significant differences between scrapie positive sheep and control animals in any of the investigated genes.

Lack of association between catechol-Omethyltransferase and schizophrenia in a Turkish population

2015 ◽  
Vol 40 (3) ◽  
Author(s):  
Ceren Acar ◽  
Mustafa Mert Sözen ◽  
Harika Gözükara ◽  
Kübra Orman ◽  
Şükrü Kartalcı
Keyword(s):  
Turkish Population ◽  
Comt Gene ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Val158met Polymorphism ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
Hardy Weinberg Equilibrium ◽  
Strong Candidate ◽  
And Control

AbstractObjective: Catechol-O-methyltransferase (COMT) is the key molecule in the catabolism of catecholamines like dopamine which is an important molecule in schizophrenia. Due to its function and location COMT gene is a strong candidate gene for schizophrenia. The aim of this study was to investigate the possible associations of 3 COMT single nucleotide polymorphisms (SNPs) and schizophrenia in our population. COMT enzyme activity is regulated by a widely known Val158Met polymorphism (rs4680), along with the variation of the SNPs rs737865 and rs165599.Methods: Val158Met polymorphism (rs4680), the SNPs rs737865 and rs165599 were the targets of this study. The study was performed with 96 patients (66 male and 30 female) and 100 controls (47 male and 53 female) from Malatya region on eastern part of Turkey by using TaqMan genotyping assays.Results: We couldn’t find a significant difference between the schizophrenia patients and normal controls for any of the SNPs that were studied. The genotype frequencies in both the patient and control groups satisfied the Hardy- Weinberg equilibrium. No significant gender differences were observed for the SNPs that were investigated. No significant difference was observed in the allele or genotype frequencies as well.Conclusion: COMT gene doesn’t appear to be a risk factor in this population of schizophrenia patients in Turkey.

Association of the CD14 C159T and the Toll-like receptor 4 Asp299Gly polymorphisms with various phenotypes of asthma in adults from Crimea

2020 ◽  
Vol 41 (2) ◽  
pp. 134-140
Author(s):  
Yuriy Bisyuk ◽  
Andrew Dubovyi ◽  
Ilona DuBuske ◽  
Viktor Litus ◽  
Lawrence M. DuBuske
Keyword(s):  
Late Onset ◽  
Adult Population ◽  
Additive Models ◽  
Atopic Asthma ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Toll Like Receptor ◽  
Toll Like Receptor 4 ◽  
Single Nucleotide ◽  
Gender And Age

Background: This study assessed gene polymorphisms of the CD14 receptor (C-159T) and Toll-like receptor 4 (Asp299Gly) in a patient population in Crimea, Ukraine, stratified by clinical (early versus late onset; frequent versus occasional relapses; fixed versus reversible obstruction) and immunologic (atopic versus nonatopic; eosinophilic; neutrophilic or paucigranulocytic inflammation) subtype. Methods: Two polymorphisms, CD14 C-159T and TLR4 Asp299Gly, were assessed in 331 patients with asthma. The control group included 285 volunteers who were nonatopic. The single nucleotide polymorphisms were studied by using polymerase chain reaction with electrophoretic detection. Results: There were increased odds of asthma development in patients with the Asp299Gly TLR4 mutation compared with the general population underdominant odds ratio (OR) 1.52 [95% confidence interval (CI), 1.00‐2.32] and overdominant (OR 1.55 [95% CI, 1.01‐2.38]) models after adjustment for gender and age. In addition, mutations in this gene decreased the odds of nonatopic asthma in underdominant (OR 0.26 [95% CI, 0.07‐0.93]; p = 0.027), overdominant (OR 0.27 [95% CI, 0.07‐0.96]; p = 0.033), and log-additive models (OR 0.26 [95% CI, 0.07‐0.93]; p = 0.026) compared with the atopic subgroup after adjustment for gender, age, number of exacerbations, and type of airway inflammation. Allele frequencies for CD14 and TLR4 polymorphisms did not show statistical differences between the patients with asthma and the control subjects. Conclusion: CD14 C-159T polymorphisms were not associated with asthma in the adult population in Crimea. TLR4 Asp299Gly polymorphisms were associated with asthma and with decreased odds of nonatopic asthma compared with atopic asthma in the adult population in Crimea.

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 Genetic Variants in Smoking-Related Genes in Two Smoking Cessation Programs: A Cross-Sectional Study

2021 ◽  
Vol 18 (12) ◽  
pp. 6597
Author(s):  
Gloria Pérez-Rubio ◽  
Luis Alberto López-Flores ◽  
Ana Paula Cupertino ◽  
Francisco Cartujano-Barrera ◽  
Luz Myriam Reynales-Shigematsu ◽  
...  
Keyword(s):  
Smoking Cessation ◽  
Cross Sectional Study ◽  
Nucleotide Polymorphisms ◽  
Sectional Study ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Genotype Frequencies ◽  
Quitting Smoking ◽  
Genes Encoding ◽  
Genomic Regions

Previous studies have identified variants in genes encoding proteins associated with the degree of addiction, smoking onset, and cessation. We aimed to describe thirty-one single nucleotide polymorphisms (SNPs) in seven candidate genomic regions spanning six genes associated with tobacco-smoking in a cross-sectional study from two different interventions for quitting smoking: (1) thirty-eight smokers were recruited via multimedia to participate in e-Decídete! program (e-Dec) and (2) ninety-four attended an institutional smoking cessation program on-site. SNPs genotyping was done by real-time PCR using TaqMan probes. The analysis of alleles and genotypes was carried out using the EpiInfo v7. on-site subjects had more years smoking and tobacco index than e-Dec smokers (p < 0.05, both); in CYP2A6 we found differences in the rs28399433 (p < 0.01), the e-Dec group had a higher frequency of TT genotype (0.78 vs. 0.35), and TG genotype frequency was higher in the on-site group (0.63 vs. 0.18), same as GG genotype (0.03 vs. 0.02). Moreover, three SNPs in NRXN1, two in CHRNA3, and two in CHRNA5 had differences in genotype frequencies (p < 0.01). Cigarettes per day were different (p < 0.05) in the metabolizer classification by CYP2A6 alleles. In conclusion, subjects attending a mobile smoking cessation intervention smoked fewer cigarettes per day, by fewer years, and by fewer cumulative pack-years. There were differences in the genotype frequencies of SNPs in genes related to nicotine metabolism and nicotine dependence. Slow metabolizers smoked more cigarettes per day than intermediate and normal metabolizers.

Single Nucleotide Polymorphisms of TRAF2 and TRAF5 Gene in Ankylosing Spondylitis: A Case-Control Study

2021 ◽  
Author(s):  
Shanshan Xu ◽  
Jiangping Kong ◽  
Li Huang ◽  
Huimin Xie ◽  
Feier Wang ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Single Nucleotide Polymorphisms ◽  
Tumor Necrosis Factor Receptor ◽  
Nucleotide Polymorphisms ◽  
Permutation Testing ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Open Questions ◽  
Genotype Frequencies ◽  
Marginal Association

Abstract ObjectiveTo investigate the role of eight locus polymorphisms of tumor necrosis factor receptor associated factor 2 (TRAF2) and TRAF5 gene and their interaction in the susceptibility to ankylosing spondylitis (AS) in Chinese Han population.MethodsEight single nucleotide polymorphisms (SNPs) (rs3750511, rs10781522, rs17250673, rs59471504, rs6540679, rs12569232, rs4951523, rs7514863) of TRAF2 and TRAF5 gene were genotyped in 673 AS patients and 687 controls.ResultsThe SNPs of TRAF2 and TRAF5 does not indicate a correlation with the susceptibility of AS in Chinese Han population. Genotype frequencies of rs3750511were statistically significant in females between patients and controls. The genotype frequencies of rs12569232 and allele frequencies of rs3750511were statistically significant between groups of different diseases activity. One three-locus model, TRAF2 (rs10781522, rs17250673) and TRAF5 (rs12569232), had a maximum testing accuracy of 52.67% and a maximum cross-validation consistency (10/10) that was significant at the level of P=0.0001, after determined empirically by permutation testing. As to environmental variables, only marginal association was found between sleep quality and AS susceptibility.ConclusionTRAF2 rs3750511 polymorphism may be associated with the susceptibility and severity of AS. Besides, the interaction of TRAF2 and TRAF5 genes may be associated with AS susceptibility, but many open questions remain.

scholarly journals Genotyping of Essential Hypertension Single-Nucleotide Polymorphisms by a Homogeneous PCR Method with Universal Energy Transfer Primers

2002 ◽  
Vol 48 (12) ◽  
pp. 2131-2140 ◽  
Author(s):  
Chikh Bengra ◽  
Theodore E Mifflin ◽  
Yuri Khripin ◽  
Paolo Manunta ◽  
Scott M Williams ◽  
...  
Keyword(s):  
Essential Hypertension ◽  
Single Nucleotide Polymorphisms ◽  
Restriction Endonucleases ◽  
Control Group ◽  
Italian Population ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Hypertensive Patients ◽  
Unique Restriction ◽  
Set Up

Abstract Background: Human hypertension is a complex, multifactorial disease with a heritability of more than 30–50%. A genetic screening test based on analysis of multiple single-nucleotide polymorphisms (SNPs) to assess the likelihood of developing hypertension would be helpful for disease management. Methods: Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: −6G→A and M235T; and one in aldosterone synthase: −344C→T] associated with essential hypertension. PCRs of SNP loci were coupled (via a common sequence of 21 nucleotide tails) to incorporate Universal Amplifluor™ primers labeled with fluorescein or sulforhodamine in a homogeneous format. Use of Amplifluors in SNP PCRs produced labeled amplicons, the fluorescence of which was quantified by a microplate reader and then analyzed via an Excel macro to provide genotypes for all six SNP loci. Unique restriction endonucleases were identified for five SNP loci that could independently confirm homogeneous PCR results when needed. Results: We developed six homogeneous PCR assays that were set up, performed, and fluorometrically analyzed in 96-well microplates. Allele frequencies were determined for six SNPs in 60 Italian hypertensive patients and a control group of 60 normotensive persons. A significant correlation (P = 0.034) between one SNP [GRK4 (A486V)] and the hypertensive patients was observed. Genotyping results for five of six SNPs were confirmed by digesting corresponding amplicons with locus-specific restriction endonucleases. Conclusions: We developed a simple and homogeneous fluorescent protocol that has been used to determine the SNP genotype for six loci in a population of hypertensive and normotensive persons. We also observed a significant association (P = 0.034) between one SNP (A486V) and an Italian population of mildly hypertensive patients.

scholarly journals Evaluation of PECAM-1 Gene Polymorphism in Patients with Periodontal Disease and Healthy Individuals

2012 ◽  
Vol 2012 ◽  
pp. 1-5
Author(s):  
Mahdi Kdkhodazadeh ◽  
Mehrdad Hajilooi ◽  
Behzad Houshmand ◽  
Sara Khazaei ◽  
Leila Gholami ◽  
...  
Keyword(s):  
Chronic Periodontitis ◽  
Aggressive Periodontitis ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Healthy Individuals ◽  
Single Nucleotide ◽  
Genotypic Distribution ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
Polymerase Chain

Objective. Our aim in this paper was to investigate the possible genetic association between three Ser563Asn, Leu125Val and Arg670Gly polymorphisms of the PECAM-1 gene and periodontitis. Methods. Genomic DNA was isolated from whole blood of 105 periodontal patient (52 with chronic periodontitis and 53 with aggressive periodontitis) and 101 healthy individuals. Samples were genotyped and analyzed for the three single-nucleotide polymorphisms (SNPs) of PECAM-1 using polymerase chain reaction with sequence-specific primers (PCR-SSPs). Results. A statistically significant difference was found between the genotypic distribution of the Ser563Asn polymorphism in patients with periodontitis compared to controls (P=0.02). But there were no statistically significant difference between the allele frequencies in the different groups (P=0.05). The other two polymorphisms did not show a statistically significant difference in their allele and genotype frequencies between the groups. There was no statistically significant difference found for any of the polymorphisms allele and genotype distribution in aggressive and chronic periodontitis either. Conclusions. No significant association was found between the polymorphism tested and the subgroups of periodontitis, further research is still necessary to determine whether this polymorphism can be used as a genetic marker of periodontitis.

scholarly journals LGALS3 +191A and +292C polymorphisms are associated with a reduction in serum gal-3 levels, but not with the clinical events of individuals with sickle cell anemia

2020 ◽  
Vol 9 (9) ◽  
pp. e442997314
Author(s):  
Kleyton Palmeira do Ó ◽  
Taciana Furtado de Mendonça-Belmont ◽  
Isabela Cristina Cordeiro Farias ◽  
Andreia Soares da Silva ◽  
Ana Karla da Silva Freire ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Serum Levels ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Clinical Events ◽  
Genotype Frequencies ◽  
Galectin 3 ◽  
Taqman Pcr

Objective: This study aimed to evaluate whether the single nucleotide polymorphisms (SNPs) +191 C>A (rs4644) and +292 A>C (rs4652) of the LGALS3 gene and the serum levels of galectin-3 (gal-3) are associated with clinical events in patients with sickle cell anemia (SCA). Methods: SNP +191 and +292 of the LGALS3 gene were detected by the TaqMan PCR system in real time. Gal-3 levels were measured in serum by ELISA. The study included 322 patients, mean age 36 (21-84). Results: AA and CA genotypes of the +191 region were related to lower levels of gal-3 when compared to CC genotype (p=0.0296). Lower level of gal-3 was also associated with the +191/+292 (AA/CC; CA/CC) diplotypes (p=0.0137) compared to the diplotypes (CC/AA; CC/CC; CC/AC; CA/AC). There was no association between serum levels of galectin-3 and genotype frequencies of the LGALS3 +191 and +292 polymorphisms with clinical events in SCA. Conclusion: The polymorphisms +191 and +292 of the LGALS3 are associated to decrease in serum levels of gal-3. However, no association of polymorphisms and levels of gal-3 with clinical events was observed in patients SCA.

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