Genetic polymorphisms of pharmacogenomic VIP variants in Chinese Lisu population

2021 ◽  
Author(s):  
Hongyan Lu ◽  
Yuliang Wang ◽  
Zhanhao Zhang ◽  
Shishi Xing ◽  
Dandan Li ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Drug Therapy ◽  
Precision Medicine ◽  
Theoretical Basis ◽  
Yunnan Province ◽  
Nucleotide Polymorphism ◽  
1000 Genomes Project ◽  
Single Nucleotide ◽  
1000 Genomes

Abstract IntroductionThe specificity of drug therapy in individuals and races has promoted the development and improvement of pharmacogenomics and precision medicine. While there is a few cognition on the minorities in China, especially in Lisu nationality from the Yunnan Province. Therefore, we performed the research to improve the role of pharmacogenomics in the Lisu population from the Yunnan province of China.Materials and MethodsIn our study, 54 variants of very important pharmacogenes (VIPs) selected from the PharmGKB database were genotyped in 199 unrelated and healthy Lisu adults from the Yunnan province of China, and then, genotyping data wtih χ2 test were analyzed.ResultsWe compared our date with those of other 26 populations from the 1000 Genomes Project, and acquired that the Lisu ethnicity is similar with the CDX(Chinese Dai in Xishuangbanna, China) and CHS(Southern Han Chinese, China). Furthermore, rs776746 (CYP3A5), rs1805123 (KCNH2), rs4291 (ACE), rs1051298 (SLC19A1) and rs1065852 (CYP2D6) were deemed as the most varying loci. The MAF of “G” at rs1805123 (KCNH2) in the Lisu population was the largest with the value of 51.0%.ConclusionsOur results show that there are significant differences in SNP (single nucleotide polymorphism) loci, supplementing the pharmacogenomic information of the Lisu population in Yunnan province, China, and can provide a theoretical basis for individualized medication in the future.

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 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.

scholarly journals New Drugs and Emerging Therapeutic Targets in the Endothelin Signaling Pathway and Prospects for Personalized Precision Medicine

2018 ◽  
pp. S37-S54 ◽  
Author(s):  
A. P. DAVENPORT ◽  
R. E. KUC ◽  
C. SOUTHAN ◽  
J. J. MAGUIRE
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Precision Medicine ◽  
Small Molecule ◽  
Rapid Expansion ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Endothelin 1 ◽  
Pulmonary Arterial

During the last thirty years since the discovery of endothelin-1, the therapeutic strategy that has evolved in the clinic, mainly in the treatment of pulmonary arterial hypertension, is to block the action of the peptide either at the ETA subtype or both receptors using orally active small molecule antagonists. Recently, there has been a rapid expansion in research targeting ET receptors using chemical entities other than small molecules, particularly monoclonal antibody antagonists and selective peptide agonists and antagonists. While usually sacrificing oral bio-availability, these compounds have other therapeutic advantages with the potential to considerably expand drug targets in the endothelin pathway and extend treatment to other pathophysiological conditions. Where the small molecule approach has been retained, a novel strategy to combine two vasoconstrictor targets, the angiotensin AT1 receptor as well as the ETA receptor in the dual antagonist sparsentan has been developed. A second emerging strategy is to combine drugs that have two different targets, the ETA antagonist ambrisentan with the phosphodiesterase inhibitor tadalafil, to improve the treatment of pulmonary arterial hypertension. The solving of the crystal structure of the ETB receptor has the potential to identify allosteric binding sites for novel ligands. A further key advance is the experimental validation of a single nucleotide polymorphism that has genome wide significance in five vascular diseases and that significantly increases the amount of big endothelin-1 precursor in the plasma. This observation provides a rationale for testing this single nucleotide polymorphism to stratify patients for allocation to treatment with endothelin agents and highlights the potential to use personalized precision medicine in the endothelin field.

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