No association between ITGAV rs3738919 and rs3768777 polymorphisms and rheumatoid arthritis susceptibility in Iranian population

2016 ◽  
Vol 40 (6) ◽  
Author(s):  
Abbas-Ali Fallah ◽  
Saeid Morovvati ◽  
Kazem Ahmadi ◽  
Gholam Hossein Alishiri ◽  
Mahdi Fasihi-Ramandi
Keyword(s):  
Rheumatoid Arthritis ◽  
Fragment Length Polymorphism ◽  
Cartilage Damage ◽  
Chronic Inflammatory Disease ◽  
Chain Reaction ◽  
Genotype Frequencies ◽  
Polymerase Chain ◽  
Genetic And Environmental Factors ◽  
Iranian Patients ◽  
Arthritis Susceptibility

AbstractBackground:Rheumatoid arthritis (RA) is a chronic inflammatory disease characterized by angiogenesis, cell proliferation and bone and cartilage damage in the affected joint. Many genetic and environmental factors contribute to RA susceptibility.Methods:Iranian patients with confirmed RA, aged over 50 years, were compared with healthy controls for allelic and genotypic frequencies of these polymorphisms. The subjects and controls were matched through their race, age and sex. After whole genome extraction, we compared genotype frequencies of analyzed alleles in RA patients and controls using a polymerase chain reaction (PCR)-restriction fragment length polymorphism assay. Association ofResults:Statistical analysis indicated no association between RA andConclusions:This study did not find any association between RA and

TPH1 and 5-HTTLPR Genes Specifically Interact in Opiate Dependence but Not in Alcohol Dependence

2016 ◽  
Vol 22 (4) ◽  
pp. 201-209 ◽  
Author(s):  
Tzu-Yun Wang ◽  
Sheng-Yu Lee ◽  
Yi-Lun Chung ◽  
Shiou-Lan Chen ◽  
Chia-Ling Li ◽  
...  
Keyword(s):  
Promoter Region ◽  
Chinese Population ◽  
Significant Interaction ◽  
Fragment Length Polymorphism ◽  
Opiate Dependence ◽  
Chain Reaction ◽  
Genotype Frequencies ◽  
Polymerase Chain ◽  
And Function ◽  
Alcohol Dependent

Background: Different drug dependencies may have unique genetic vulnerabilities. Changes in serotonin availability and function have been linked to addiction. We investigated whether 2 serotonergic polymorphisms, TPH1 A218C (rs1800532) and 5-HTT-linked promoter region (5-HTTLPR) (rs25531), are differently associated with alcohol or opiate dependence. Methods: Alcohol-dependent patients (n = 292), opiate-dependent patients (n = 309), and healthy controls (n = 301) were recruited from the Han Chinese population in Taiwan. Genotypes of TPH1 A218C and 5-HTTLPR polymorphisms were analyzed using a polymerase chain reaction with restriction fragment length polymorphism. Results: The genotype frequencies of the TPH1 A218C polymorphisms were not significantly different in the 3 groups. The genotype frequencies of the 5-HTTLPR S+ (S/S, S/LG, LG/LG) polymorphisms were significantly higher in opiate-dependent patients (χ2 = 8.77, p = 0.01), but not after controlling for the covariates of age, gender, and interaction effect in logistic regression analysis. Moreover, there was a significant interaction between the TPH1 A218C A/C and 5-HTTLPR S+ gene polymorphisms in opiate-dependent (OR 2.72, p = 0.01), but not in alcohol-dependent patients. Conclusions: Our data suggested that there may be a differential genetic vulnerability in serotonergic genes for alcohol and opiate addiction. However, replications of our findings are still needed.

scholarly journals Polymorphism of the SNP g. 1180 C>T in leptin gene and its association with growth traits and linear body measurement in Kebumen Ongole Grade cattle

2019 ◽  
Vol 44 (2) ◽  
pp. 125
Author(s):  
A. Fathoni ◽  
D. Maharani ◽  
R. N. Aji ◽  
R. Choiri ◽  
S. Sumadi
Keyword(s):  
Fragment Length Polymorphism ◽  
Growth Traits ◽  
Body Measurement ◽  
Chain Reaction ◽  
Genotypic Distribution ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Weaning Age ◽  
Polymerase Chain ◽  
Linear Body

The aim of this study was to identify the polymorphism of leptin gene and its association with growth traits in Kebumen Ongole Grade cattle. One hundred blood samples were collected for molecular analysis. Polymorphism of the leptin gene was analyzed using Polymerase Chain Reaction - Restriction Fragment Length Polymorphism (PCR-RFLP) with HpyCH4V restriction enzyme and DNA sequencing. Association analysis of the leptin gene with growth traits was analyzed by T-test. The results showed that SNP g. 1180 C>T was found in the population.The SNP changed amino acid from arginine to cysteine. The SNP was significantly associated with a high chest circumference at weaning age in animal having CC genotype (P<0.05). There were two identified alleles, namely C and T, with frequencies were 0.885 and 0.115,respectively. The genotype frequencies of CC, CT and TT were 0.78, 0.21 and 0.01, respectively. Allelic and genotypic distribution in the studied population were in Hardy-Weinbergequilibrium. Animals with CC genotype had a higher circumference at weaning age (WCC) than those with CT genotype. In conclusion, SNP g. 1180 C> T in the leptin gene is potential as genetic marker for growth traits in Kebumen Ongole Grade cattle.

Pharmacogenetic relevant polymorphisms of CYP2C9, CYP2C19, CYP2D6, and CYP3A5 in Bhutanese population

2019 ◽  
Vol 34 (4) ◽  
Author(s):  
Palden Wangyel Dorji ◽  
Sonam Wangchuk ◽  
Kanyarat Boonprasert ◽  
Mayuri Tarasuk ◽  
Kesara Na-Bangchang
Keyword(s):  
Polymerase Chain Reaction ◽  
Fragment Length Polymorphism ◽  
Allele Frequencies ◽  
Drug Reactions ◽  
Pharmacological Treatments ◽  
Chain Reaction ◽  
East Asians ◽  
Genotype Frequencies ◽  
Polymerase Chain ◽  
Restriction Fragment Length

Abstract Background Marked differences among genotype frequencies (Caucasians, Asians, and Africans) have been observed in cytochrome P450 (CYP) genes. Data on the frequency of pharmacogenetic relevant polymorphisms in Bhutanese population is absent. This study aimed to investigate the frequencies of pharmacogenetic relevant polymorphisms of CYP2C9 (*2 and *3), CYP2C19 (*2 and *3), CYP2D6 (*10), and CYP3A5 (*3) in Bhutanese population. Methods Genotyping was performed in 443 DNA samples using polymerase chain reaction-restriction fragment length polymorphism. Results For CYP2C9, allele frequencies of *2 and *3 variants were 0.339% and 0%, respectively. For CYP2C19, frequencies of *2 and *3 variants were 30.135% and 15.689%, respectively. Allele frequencies of CYP2D6*10 and CYP3A5*3 were 21.332% and 77.314%, respectively. Allele frequencies of CYP2C9*2 are similar to most Asians while CYP2C9*3 was absent. CYP2C19*2 showed a close resemblance to Japanese and Burmese, while CYP2C19*3 is near to Japanese and Korean. CYP2D6*10 is noticeably lower than other Asians. CYP3A5*3 is similar to East Asians (Chinese, Japanese, and Korean). Conclusions The Bhutanese population is polymorphic for these CYP genes, except for CYP2C9*3. Similar to other populations, genetic testing for these genes may, therefore, be helpful to obtain the benefit from pharmacological treatments and prevent adverse drug reactions.

scholarly journals IL17A G197A and IL17F T7488C genotypes of IL-17 gene as biomarkers in keratoconus

2021 ◽  
Author(s):  
Isabela Bronchtein Gomes ◽  
Christiane Maria Ayo ◽  
Alessandro Garcia Lopes ◽  
Laurie Sayuri Kumano ◽  
Geraldo Magela de Faria Junior ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Risk Factor ◽  
Restriction Fragment Length Polymorphism ◽  
Fragment Length Polymorphism ◽  
Northwestern Part ◽  
Chain Reaction ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Restriction Fragment Length

Abstract Investigate possible correlations between genetic polymorphisms of IL17A G197A (rs2275913) and IL17F T7488C (rs763780) with the development of keratoconus (KC) in patients from a population of the northwestern part of the State of São Paulo. Were enrolled 35 patients and 61 controls. Genotyping of IL17A G197A and IL17F T7488C polymorphisms was carried out using the PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism) technique. The evaluation of IL17F T7488C SNP found that the TT genotype is associated as a risk factor for the development of KC (P = 0.04; OR = 2.97; CI = 1.09–8.33). As for the evaluation of IL17A G197A SNP, the allele and genotype frequencies between patients and controls were compared and no statistically significant differences were found. The TT genotype of IL17F T7488C SNP apparently contributes to the development of KC and the IL17A G197A SNP seemingly has no influence on the progression of the disease in the population of this study.

scholarly journals Phytoplasma occurrence in apple trees in the Czech Republic

2011 ◽  
Vol 39 (No. 1) ◽  
pp. 7-12 ◽  
Author(s):  
R. Fialová ◽  
M. Navrátil ◽  
P. Válová
Keyword(s):  
Fragment Length Polymorphism ◽  
Rrna Gene ◽  
Polymorphism Analysis ◽  
Apple Proliferation ◽  
Chain Reaction ◽  
Apple Trees ◽  
The Czech Republic ◽  
High Incidence ◽  
Phytoplasma Infection ◽  
Polymerase Chain

The presence of phytoplasmas in apple trees with proliferation symptoms, rubbery wood symptoms and no symp&shy;toms was determined by using polymerase chain reaction assays with primers amplifying phytoplasma 16S rRNA gene. Phytoplasmas were detected in all trees with proliferation symptoms. Positive tests for phytoplasma in the group of trees with rubbery wood symptoms and of those without symptoms revealed a relatively high incidence of latent phytoplasma infection. Using restriction fragment length polymorphism analysis, phytoplasma of the same identity &ndash; apple proliferation phytoplasma (subgroup 16SrX-A) &ndash; was recorded in all positively tested trees. &nbsp;

scholarly journals AB0008 THE IMPACT OF STAT4 RS7574865, IL6 RS1800795, IL6R RS2228145 AND RS4845618 ON RHEUMATOID ARTHRITIS SUSCEPTIBILITY IN BELARUSIAN POPULATION

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1307.1-1308
Author(s):  
E. Siniauskaya ◽  
T. Kuzhir ◽  
V. Yagur ◽  
R. Goncharova
Keyword(s):  
Rheumatoid Arthritis ◽  
Blood Donors ◽  
Genetic Model ◽  
Online Tool ◽  
Genotype Frequencies ◽  
Systemic Disorder ◽  
Autoimmune Pathogenesis ◽  
The Impact ◽  
Arthritis Susceptibility

Background:Rheumatoid arthritis (RA) is a chronic systemic disorder of the connective tissue of still unknown aetiology and complex autoimmune pathogenesis that primarily affects small joints. HLA alleles provide for 11-37% of the RA heritability, suggesting the substantial role of the non-HLA loci in genetic predisposition to RA. Among non-HLA loci,IL6, IL6RandSTAT4genes attract attention, however, the data concerning their influence on RA risk are somewhat contradictory.Objectives:The aim of the study was to analyze the involvement of four SNPs (STAT4rs7574865,IL6rs1800795,IL6Rrs2228145 and rs4845618) in RA susceptibility.Methods:187 patients diagnosed with RA (mean age 58.2 ± 11.9), and 380 healthy blood donors (mean age 37.18 ± 10.69 years) were included into the study. DNA extraction from peripheral blood samples was performed using the phenol-chloroform method. SNPs were genotyped using the real-time PCR with fluorescent probes. The allele and genotype frequencies were compared using the χ2 test. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated using the VassarStats online tool.Results:Utilizing recessive genetic model we found an association between TT genotype ofSTAT4rs7574865 (OR = 2.362; 95%CI [1.0378 – 5.376], p = 0.038) and RA. ForIL6rs1800795, it was found that CC genotype had significantly higher frequency among patients with rheumatoid arthritis as compared to that in controls (OR = 1.52; 95%CI [1.02 – 2.27], p = 0.0456). No associations ofIL6Rrs2228145 and rs4845618 SNPs with risk of RA were found in the total group of patients vs. controls. It was also shown thatIL6rs1800795 CC genotype frequency was significantly higher among the patients with RF-negative status (p = 0.0019).Conclusion:Thus, we provide evidence for association of theSTAT4rs7574865 andIL6rs1800795 variants with risk of RA in the Belarusian population, some features of interplay being revealed between gene polymorphisms analyzed and RA antibody status. Abovementioned SNPs may contribute to RA genetic susceptibility in the Belarusian population.Disclosure of Interests:None declared

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