A Single-nucleotide Polymorphism in SCN9A May Decrease Postoperative Pain Sensitivity in the General Population

2013 ◽  
Vol 118 (2) ◽  
pp. 436-442 ◽  
Author(s):  
Guangyou Duan ◽  
Guifang Xiang ◽  
Xianwei Zhang ◽  
Ruimei Yuan ◽  
Huiming Zhan ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Postoperative Pain ◽  
General Population ◽  
Pain Sensitivity ◽  
Pressure Pain Threshold ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Pressure Pain ◽  
Pressure Pain Thresholds

Abstract Background: This study aimed to explore the role of a nonsynonymous single-nucleotide polymorphism, 3312G>T, in SCN9A, which was identified in probands with congenital indifference to pain, but which is also present in normal controls, in the prediction of individual baseline pain perception, and postoperative pain sensitivity in the general population. Methods: Preoperative pressure pain thresholds and tolerance were measured in 200 patients undergoing pancreatectomy, and the postoperative pain sensitivity and analgesic demand were recorded. These variables were compared according to the SCN9A 3312G>T alleles. Logistic regression analysis was used to test the role of preoperative variables in the prediction of postoperative inadequate analgesia. Results: The 3312Tallele was present in 22 individuals, and the 3312Tallele frequency was 5.5% (22/200). The average patient-controlled analgesia pressing frequency and opioid consumption in 3312G patients was significantly higher than those in 3312T patients (2.70 [SD: 0.84] vs. 2.05 [SD: 0.43], P < 0.001; 100.8 [SD: 40.7] vs. 74.8 [SD: 20.8] ml, P = 0.006). The incidence of inadequate analgesia in 3312G patients was significantly higher than that of patients carrying the 3312Tallele (29.2% vs. 4.5%; P = 0.013). Carrying the 3312Tallele and having a higher pressure pain threshold predicted a lower risk of postoperative inadequate analgesia, with an odds ratio of 0.10 (95% CI: 0.01 to 0.76, P = 0.026) and 0.32 (95% CI: 0.13 to 0.82, P = 0.018), respectively. Conclusion: Patients carrying the SCN9A 3312Tallele presented with lower postoperative pain sensitivity in the presence of a similar surgical pain stimulus, and had a lower likelihood of developing inadequate analgesia than those carrying the 3312Gallele.

scholarly journals Prevalence of ACSL (rs6552828) polymorphism among runners

2019 ◽  
Vol 24 ◽  
pp. 121-128
Author(s):  
Sigal Ben-Zaken ◽  
Yoav Meckel ◽  
Dan Nemet ◽  
Alon Eliakim
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Genetic Basis ◽  
Maximal Oxygen Consumption ◽  
Professional Athletes ◽  
Distance Runners ◽  
Nucleotide Polymorphism ◽  
Long Distance ◽  
Single Nucleotide ◽  
The Common

The ACSL A/G polymorphism is associated with endurance trainability. Previous studies have demonstrated that homozygotes of the minor AA allele had a reduced maximal oxygen consumption response to training compared to the common GG allele homozygotes, and that the ACSL A/G single nucleotide polymorphism explained 6.1% of the variance in the VO2max response to endurance training. The contribution of ACSL single nucleotide polymorphism to endurance trainability was shown in nonathletes, however, its potential role in professional athletes is not clear. Moreover, the genetic basis to anaerobic trainability is even less studied. Therefore, the aim of the present study was to examine the prevalence of ACSL single nucleotide polymorphism among professional Israeli long distance runners (n=59), middle distance runners (n=31), sprinters and jumpers (n=48) and non-athletic controls (n=60). The main finding of the present study was that the ACSL1 AA genotype, previously shown to be associated with reduced endurance trainability, was not higher among sprinters and jumpers (15%) compared to middle- (16%) and long-distance runners (15%). This suggests that in contrast to previous studies indicating that the ACSL1 single nucleotide polymorphism may influence endurance trainability among non-athletic individuals, the role of this polymorphism among professional athletes is still not clear.

A non-synonymous single nucleotide polymorphism in the paraoxonase 3 gene regulates meat quality in Berkshire pigs

2018 ◽  
Vol 58 (11) ◽  
pp. 1990 ◽  
Author(s):  
Jeong-Wan Hur ◽  
Jung Hye Hwang ◽  
Seul Gi Kwon ◽  
Da Hye Park ◽  
Tae Wan Kim ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Meat Quality ◽  
Cooking Loss ◽  
Quality Traits ◽  
Post Mortem ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Meat Quality Traits ◽  
Berkshire Pigs

The paraoxonase (Pon) gene family contains three members: Pon1, Pon2, and Pon3. Pon3 modulates superoxide production and prevents apoptosis. The role of Pon3 has not been fully elucidated in the pig. This study is the first to investigate the association between Pon3 and meat quality in the Berkshire pig. We identified a single nucleotide polymorphism in the Pon3 gene (c.227A > G) that resulted in a change in histidine to arginine at position 76. To elucidate the role of this non-synonymous single nucleotide polymorphism in the Pon3 gene, we analysed the Pon3 genotype and meat quality traits in 434 Berkshire pigs. The results of a codominant model show that carcass weight, meat colour (lightness), cooking loss, and the Warner–Bratzler shear force were significantly associated with the Pon3 genotype. Furthermore, the 24-h post-mortem pH had the strongest relationship with the Pon3 genotype. The G allele decreased cooking loss and fat content, whereas the A allele increased the 24-h post-mortem pH and decreased backfat thickness, which contribute to meat storage life and M. longissimus dorsi depth respectively. In conclusion, the non-synonymous single nucleotide polymorphism in the Pon3 gene showed a close correlation with meat quality traits in the Berkshire pig.

scholarly journals ACTN3 polymorphism prevalence in general population of six Balkan countries

Genetika ◽  
2017 ◽  
Vol 49 (3) ◽  
pp. 959-968
Author(s):  
Hacer Konakli ◽  
Zafer Konakli ◽  
Senol Dogan ◽  
Damir Marjanovic ◽  
Serkan Dogan
Keyword(s):  
Single Nucleotide Polymorphism ◽  
General Population ◽  
Elite Athletes ◽  
Rflp Analysis ◽  
Population Data ◽  
Sport Performance ◽  
Nucleotide Polymorphism ◽  
Salting Out ◽  
Single Nucleotide ◽  
Balkan Countries

The aim of this study was to investigate the prevalence of RR, RX and XX genotypes of rs1815739 single nucleotide polymorphism of ACTN3 gene in general population of six Balkan countries. This SNP is currently thought to give genetic predisposition for advantageous sport performance, with its R allele positively correlating with better performance in strength/power sports, and X allele being present in higher frequency in elite athletes in endurance disciplines. A total of 483 individuals (281 males and 202 females) from seven populations from six countries was tested. Samples were collected by buccal swabbing method, DNA was isolated according to salting-out protocol and genotyping was performed using PCR and RFLP analysis. Obtained results suggest that RR and RX genotypes (43.7% and 44.1%, respectively) are overrepresented when compared to XX genotype (12.2%). The XX genotype in the study samples is present in lower frequency when compared to the global (16-18%) and European (18%) average. This study reports the first population data on genotype prevalence in sports-related genes for this part of Europe and is the beginning of research interests that intend to investigate genetic predispositions of elite athletes from this region competing internationally in different disciplines.

scholarly journals Polymorphism in the TP63 gene imparts a potential risk for leukemia in the North Indian population

2021 ◽  
Vol 21 (3) ◽  
pp. 1243-1249
Author(s):  
Amrita Bhat ◽  
Gh. Rasool Bhat ◽  
Sonali Verma ◽  
Ruchi Shah ◽  
Ashna Nagpal ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Indian Population ◽  
Taqman Assay ◽  
Genome Wide Association Studies ◽  
North Indian Population ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Jammu And Kashmir ◽  
The North

Background: The role of single nucleotide polymorphism rs10937405 (C>T) of the TP63 gene in cancer including leu- kemia has previously been studied in different world populations; however, the role of this variant in leukemia in the North Indian population of Jammu and Kashmir is still unknown. Objectives: In the present study, we investigated the association of genetic variant rs10937405 with leukemic in the Jammu and Kashmir population. Methods: A total of 588 subjects, (188 cases and 400 controls) were recruited for the study. The rs10937405 variant was genotyped by using the real-time based TaqMan assay. Results: A statistically significant association was observed between the rs10937405 and leukemia [OR of 1.94 (95% CI 1.51-2.48), p=1.2x10-6]. Conclusion: The current study concludes that the rs10937405 variant is a risk factor for the development of leukemia in the population of Jammu and Kashmir, North India. However, it would be interesting to explore the contribution of this variant in other cancers as well. Our findings will help in the development of diagnostic markers for leukemia in the studied population and potentially for other North Indian populations. Keywords: Single Nucleotide Polymorphism (SNPs); Leukemia; North Indian population; Tumour suppressor (TP63); Linkage Disequilibrium (LD); Genome wide association studies (GWAS); Jammu and Kashmir (J &K).

scholarly journals Pathogenetic significance of C774T single nucleotide polymorphism of the endothelial NO synthase gene in the development of metabolic syndrome

2016 ◽  
Vol 62 (4) ◽  
pp. 447-452 ◽  
Author(s):  
N.S. Fattakhov ◽  
M.A. Vasilenko ◽  
D.A. Skuratovskaia ◽  
D.I. Kulikov ◽  
E.V. Kirienkova ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Metabolic Syndrome ◽  
Single Nucleotide Polymorphism ◽  
Serum Levels ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Nos3 Gene ◽  
Kaliningrad Region ◽  
The Relationship

The relationship between nitric oxide production and metabolic disorders and the role of endothelial nitric oxide synthase (eNOS or NOS3) in metabolic syndrome (MS) remain poorly understood and need deeper investigation. In this context the role of the NOS3 gene in pathogenesis of MS is of special interest. The aim of the study was to investigate association of NOS3 single nucleotide polymorphism C774T with risk of MS in the Slavic population of the Kaliningrad region and the relationship of this polymorphic variant with some parameters of endothelial dysfunction. The study included 128 patients (48 men and 80 women aged from 36 to 52 years) with MS. The control group consisted of 126 healthy volunteers (60 men and 66 women aged from 30 to 40 years). Genotyping was performed by real-time PCR. Serum nitrite levels were determined spectrophotometrically by the Griess method. Serum levels of endothelin-1 and eNOS were evaluated by ELISA. The study has shown association of T allele (OR=2.06; p=0.0004; CI: 1.38-3.08) and CT genotype (OR=1.97; p=0.014; CI: 1.14-3.40 ) C774T polymorphism of the NOS3 gene with risk of MS in the Slavic population of the Kaliningrad region. Allele C (OR=0.48; p=0.0004; CI: 0.32-0.72) and homozygous CC genotype (OR=0.41; p=0.001; CI: 0.24-0,69) C774T polymorphism of the NOS3 gene were associated with reduced risk of the development of MS. Significant differences in serum levels of eNOS and endothelin-1 depended on the CT and TT genotypes of C774T polymorphism of the NOS3 gene in MS.

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