scholarly journals IL10 rs1800872 Is Associated with Non-Steroidal Anti-Inflammatory Drugs Exacerbated Respiratory Disease in Mexican-Mestizo Patients

Biomolecules ◽  
2020 ◽  
Vol 10 (1) ◽  
pp. 104
Author(s):  
Gandhi Fernando Pavón-Romero ◽  
Gloria Pérez-Rubio ◽  
Fernando Ramírez-Jiménez ◽  
Enrique Ambrocio-Ortiz ◽  
Cristian Rubén Merino-Camacho ◽  
...  

Non-steroidal anti-inflammatory drugs (NSAID) exacerbated respiratory disease (N-ERD) is a disease integrated by asthma, nasal polyps, and hypersensitivity to non-steroidal anti-inflammatory drugs (NSAID). Genetic association studies have explored single nucleotide polymorphisms (SNPs) in genes involved in theoretical pathophysiological mechanisms, but most of these lack replication of findings in second populations. Our objective was to evaluate the association of SNPs in candidate genomic regions described in Asian and European subjects with N-ERD in Mexican-mestizo patients. We designed a replicative study in two stages. We included 381 SNPs selected by fine mapping of associated genes in a microarray, which were tested in three groups: N-ERD (N), asthma (A), and control group (CG); by means of GoldenGate array, positive results by genetic models were validated in the second stage in another population through qPCR with the same methodology. In the allelic model, we identified 11 SNPs in N vs. CG comparison, and five in N vs. A and A vs. CG, respectively. By genetics models, all SNPs in PPARG, rs13239058 in TBXAS1, and rs1554286 and rs1800872 in IL10 were associated in both models. In the second stage, only rs1800872CC showed an association in the dominant model comparing N vs. GC, p = 0.004, OR = 0.44. In conclusion, rs1800872 in IL10 was the only associated with N-ERD in Mexican-mestizo patients.

Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 301
Author(s):  
Jana Mrazkova ◽  
Petr Sistek ◽  
Jan Lochman ◽  
Lydie Izakovicova Holla ◽  
Zdenek Danek ◽  
...  

Mannose-binding lectin (MBL) deficiency caused by the variability in the MBL2 gene is responsible for the susceptibility to and severity of various infectious and autoimmune diseases. A combination of six single nucleotide polymorphisms (SNPs) has a major impact on MBL levels in circulation. The aim of this study is to design and validate a sensitive and economical method for determining MBL2 haplogenotypes. The SNaPshot assay is designed and optimized to genotype six SNPs (rs1800451, rs1800450, rs5030737, rs7095891, rs7096206, rs11003125) and is validated by comparing results with Sanger sequencing. Additionally, an algorithm for online calculation of haplogenotype combinations from the determined genotypes is developed. Three hundred and twenty-eight DNA samples from healthy individuals from the Czech population are genotyped. Minor allele frequencies (MAFs) in the Czech population are in accordance with those present in the European population. The SNaPshot assay for MBL2 genotyping is a high-throughput, cost-effective technique that can be used in further genetic-association studies or in clinical practice. Moreover, a freely available online application for the calculation of haplogenotypes from SNPs is developed within the scope of this project.


Genes ◽  
2021 ◽  
Vol 12 (6) ◽  
pp. 919
Author(s):  
Jakub P. Fichna ◽  
Kinga Humińska-Lisowska ◽  
Krzysztof Safranow ◽  
Jakub G. Adamczyk ◽  
Paweł Cięszczyk ◽  
...  

Numerous genetic factors have been shown to influence athletic performance, but the list is far from comprehensive. In this study, we analyzed genetic variants in two genes related to mental abilities, SLC6A2 (rs1805065) and SYNE1 (rs2635438) in a group of 890 athletes (320 endurance, 265 power, and 305 combat athletes) vs. 1009 sedentary controls. Genotyping of selected SNPs was performed using TaqMan SNP genotyping assays. SLC6A2 codes for norepinephrine transporter, a protein involved in modulating mood, arousal, memory, learning, and pain perception, while SYNE1 encodes protein important for the maintenance of the cerebellum—the part of the brain that coordinates complex body movements. Both SNPs (rs2635438 and rs1805065) showed no statistically significant differences between the frequencies of variants in the athletes and the sedentary controls (athletes vs. control group) or in the athlete subgroups (martial vs. control, endurance vs. control, and power vs. control). The rs1805065 T variant of SLC6A2 was found to be overrepresented in male high-elite martial sports athletes when compared to sedentary controls (OR = 6.56, 95%CI = 1.82–23.59, p = 0.010). This supports the hypothesis that genetic variants potentially affecting brain functioning can influence elite athletic performance and indicate the need for further genetic association studies, as well as functional analyses.


2019 ◽  
Vol 19 (1) ◽  
pp. 108-116
Author(s):  
O Tolmachyov ◽  
A Vekovtsev ◽  
V Vovchenko ◽  
A Bykov ◽  
V Poznyakovsky

Aim. The article deals with developing and assessing the efficiency of a complex nutritional support program for the joint-ligament system in athletes and physically active people. Materials and methods. The clinical evidence of biologically active substance (BAS) efficiency and functional orientation was obtained from the representative group of people with knee-joint osteoarthrosis. The main group of participants received a BAS complex with synergistic properties in terms of metabolism correction during osteoarthrosis: BAS 1 – 2 pills, BAS 2 – 1 capsule (2 times per day, 12 weeks), and BAS 3 – 1 capsule (2 times per day, 8 weeks). Nonsteroidal anti-inflammatory drugs were also prescribed to participants from the main and control groups. We used the general and special methods for assessing the quality and functional properties of specialized products. Knee joints were studied by using the Lequesne index (scores) characterizing pain syndrome, maximal distance, and daily movement activity. The intensity of pain syndrome was assessed with the visual analog scale (VAS, in mm). Results. We provided a scientific justification for the qualitative and quantitative content of BAS recipes for complex nutritional support of the joint-ligament system: BAS 1 – chondroprotective orientation; BAS 2 – an optimal source of minerals and vitamins; BAS 3 – polyunsaturated fatty acids. The results obtained revealed that specialized products improve the movement activity of participants with osteoarthrosis and significantly decrease pain syndrome (36 %). Apart from a chondroprotective effect such nutrition provides an anti-inflammatory effect and allows decreasing the intake of Nonsteroidal anti-inflammatory drugs in the absence of side effects. We revealed an insignificant number of disease recurrence – 6.7% (in the control group – 36.5 %) and established the mechanisms of such an influence. Conclusion. The application of biologically active complexes could serve as a reliable means of preventing and treating the diseases of the joint-ligament system, providing physical performance, and preserving health in athletes and physically active people.


2015 ◽  
Vol 5 (5) ◽  
pp. 392-398 ◽  
Author(s):  
Hacer Ilbilge Ertoy Karagol ◽  
Ozlem Yilmaz ◽  
Erdem Topal ◽  
Alper Ceylan ◽  
Arzu Bakirtas

2004 ◽  
Vol 9 (4) ◽  
pp. 195-201 ◽  
Author(s):  
Martin N Scanlon ◽  
Urmil Chugh

OBJECTIVE:To explore the attitudes of family physicians (FPs) toward the use of opioids in the management of chronic noncancer pain (CNCP) in the Calgary Health Region (CHR), Calgary, Alberta.METHODS:From January to February 2003, random samples of 147 FPs (32 were used to pretest the instrument and were therefore excluded from the findings) and 142 specialists practicing in the CHR were invited to participate in a 20 min survey to explore aspects of CNCP management in the CHR. Physicians' comfort in prescribing opioids and nonsteroidal anti-inflammatory drugs for CNCP was measured on a four-point ordinal scale. The specialists' subgroup served as a quasi-control group. In addition, a short version of the survey was provided for those physicians who declined to fully partake in the study. This allowed the researchers to compare important characteristics between respondents and nonrespondents.RESULTS:A total of 125 physicians (63 FPs and 62 specialists) participated in the study. The overall response rate was 48.6% and response rates for FPs and specialists were 54.8% and 43.7%, respectively. Response rates for the long version of the survey were 42.6% for FPs (n=49), 31.6% for other specialists (n=45) and 36.6% for both combined. The majority of FPs and specialists (98% and 71.1%, respectively) reported that 'they can handle' nonsteroidal anti-inflammatory drugs, Tylenol No 3 with Codeine (Janssen-Ortho/McNeil Consumer Healthcare, Canada) (95.9% and 64.4%, respectively), morphine/MS Contin (Purdue Pharma, Canada) (61.2% and 24.4%, respectively) and Percocet (Bristol-Myers Squibb, Canada)/OxyContin (Purdue Pharma, Canada) (61.2% and 33.3%, respectively). Fewer FPs and specialists report that 'they can handle' Dilaudid (Abbott Laboratories, Canada)/Hydromorph Contin (Purdue Pharma, Canada) (36.7% and 13.3%, respectively), fentanyl patch (30.6% and 11.1%, respectively) and methadone (0% and 6.7%, respectively). Male FPs reported a greater degree of comfort than female FPs regarding morphine/MS Contin, Percocet/OxyContin and Dilaudid/Hydromorph Contin (Mann-Whitney U tested at a£0.05). No sex differences were detected among specialists. No relationship was detected between comfort and years of practice or number of chronic pain patients in practice. Among specialists, a weak positive relationship was detected between the degree of comfort with methadone (Spearman's rank correlation coefficient=0.35, a=0.03) and the significance of pain management in the practice. Except for methodone, the FPs reported a higher confidence with the drugs in question compared with specialists (a£0.05).CONCLUSIONS:FPs in the CHR need to increase their comfort level toward opioids in general to adequately manage CNCP. Their lack of comfort may reflect a lack of education or fear of regulatory scrutiny.


2005 ◽  
Vol 03 (05) ◽  
pp. 1089-1106 ◽  
Author(s):  
TIE-FEI LIU ◽  
WING-KIN SUNG ◽  
YI LI ◽  
JIAN-JUN LIU ◽  
ANKUSH MITTAL ◽  
...  

Single nucleotide polymorphisms (SNPs), due to their abundance and low mutation rate, are very useful genetic markers for genetic association studies. However, the current genotyping technology cannot afford to genotype all common SNPs in all the genes. By making use of linkage disequilibrium, we can reduce the experiment cost by genotyping a subset of SNPs, called Tag SNPs, which have a strong association with the ungenotyped SNPs, while are as independent from each other as possible. The problem of selecting Tag SNPs is NP-complete; when there are large number of SNPs, in order to avoid extremely long computational time, most of the existing Tag SNP selection methods first partition the SNPs into blocks based on certain block definitions, then Tag SNPs are selected in each block by brute-force search. The size of the Tag SNP set obtained in this way may usually be reduced further due to the inter-dependency among blocks. This paper proposes two algorithms, TSSA and TSSD, to tackle the block-independent Tag SNP selection problem. TSSA is based on A* search algorithm, and TSSD is a heuristic algorithm. Experiments show that TSSA can find the optimal solutions for medium-sized problems in reasonable time, while TSSD can handle very large problems and report approximate solutions very close to the optimal ones.


Allergy ◽  
2016 ◽  
Vol 72 (4) ◽  
pp. 616-626 ◽  
Author(s):  
H. Y. Lee ◽  
Y. M. Ye ◽  
S. H. Kim ◽  
G. Y. Ban ◽  
S. C. Kim ◽  
...  

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