scholarly journals Functional Genetic Single-Nucleotide Polymorphisms (SNPs) in Cyclin-Dependent Kinase Inhibitor 2A/B (CDKN2A/B) Locus Are Associated with Risk and Prognosis of Osteosarcoma in Chinese Populations

2019 ◽  
Vol 25 ◽  
pp. 1307-1313 ◽  
Author(s):  
Huahui Zhang ◽  
Jian-S. Mao ◽  
Wei-F. Hu
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Kinase Inhibitor ◽  
Nucleotide Polymorphisms ◽  
Cyclin Dependent Kinase ◽  
Single Nucleotide ◽  
Chinese Populations ◽  
Cyclin Dependent Kinase Inhibitor ◽  
B Locus

scholarly journals Functional single nucleotide polymorphisms within the cyclin-dependent kinase inhibitor 2A/2B region affect pancreatic cancer risk

Oncotarget ◽  
2016 ◽  
Vol 7 (35) ◽  
pp. 57011-57020 ◽  
Author(s):  
Daniele Campa ◽  
Manuela Pastore ◽  
Manuel Gentiluomo ◽  
Renata Talar-Wojnarowska ◽  
Juozas Kupcinskas ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Cancer Risk ◽  
Single Nucleotide Polymorphisms ◽  
Kinase Inhibitor ◽  
Nucleotide Polymorphisms ◽  
Cyclin Dependent Kinase ◽  
Single Nucleotide ◽  
Pancreatic Cancer Risk ◽  
Cyclin Dependent Kinase Inhibitor

Association of Single-Nucleotide Polymorphisms With Chronic Rhinosinusitis in a Southwestern Han Chinese Population: A Replication Study

2019 ◽  
Vol 34 (3) ◽  
pp. 352-360
Author(s):  
Yang Xu ◽  
Yongbo Zheng ◽  
Min Cao ◽  
Wen Yang ◽  
Jianjun Ren ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Chronic Rhinosinusitis ◽  
Genetic Polymorphisms ◽  
Chinese Population ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Chinese Populations ◽  
Genotypic Association ◽  
Sinonasal Outcome Test

Background Chronic rhinosinusitis (CRS) is a multifactorial inflammatory disease. The role of genetic variations of related genes in the development of CRS and severity of symptoms is unknown in Southwestern Chinese populations. Objective We selected candidate CRS-related genetic polymorphisms and evaluated the associations that were different according to the presence of nasal polyp, asthma, and allergic rhinitis (AR) in a Southwestern Chinese population. Detailed phenotypes were compared among different genotypes. Methods In 452 CRS patients and 591 healthy controls, clinico-epidemiological information was collected and 23 previously reported CRS-related single-nucleotide polymorphisms (SNPs) were genotyped. Genotypes were determined using a Sequenom MassARRAY SNP genotyping system. Clinical disease measures including the sinonasal outcome test, visual analogue scale (VAS), and symptom severity VAS were evaluated for each patient. The association between CRS, genotypes, asthma, AR, and symptoms was analyzed. The effect of sex, age, body mass index, and status of smoking was considered. Results Statistically significant genotypic association with CRS was observed with an IL1RL1 genetic polymorphism (rs13431828; odds ratio [OR] = 1.45; 95% confidence interval [CI], 1.06–1.99; P = .02). Similar association was observed with rs13431828 in subgroups of CRS with nasal polyps (OR = 1.53; 95% CI, 1.03–2.29; P = .04), asthma (OR = 2.08; 95% CI, 1.14–3.79; P = .02), and AR (OR = 1.59; 95% CI, 1.06–2.39; P = .02). No significant association with other SNPs was observed. The evaluated genetic polymorphisms were not associated with clinical symptom scores. Conclusion This study replicated rs13431828 as being associated with CRS in Southwestern Chinese. rs13431828 was also significantly associated with CRS patients who have concurrent allergic nasal diseases.

Genetic polymorphisms and sunitinib outcome in metastatic renal-cell carcinoma: A prospective observational study and validation.

2013 ◽  
Vol 31 (6_suppl) ◽  
pp. 403-403
Author(s):  
Carlos A. Farfán ◽  
Daniel E. Castellano ◽  
Cristina Rodriguez-Antona ◽  
Julio Benitez ◽  
Guillermo De Velasco ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Single Nucleotide Polymorphisms ◽  
Cell Carcinoma ◽  
Metastatic Renal Cell Carcinoma ◽  
Renal Cell ◽  
Kinase Inhibitor ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Significant Difference ◽  
Independent Series

403 Background: Sunitinib (SU) is an oral small-molecule, multi-targeted receptor tyrosine kinase inhibitor, which is approved as first-line treatment for metastatic renal cell carcinoma (RCC). In a previous study, using a commercially available DNA microarray genotyping system, we identified a group of single nucleotide polymorphisms (SNPs) associated with survival and toxicity in RCC patients, treated with SU. In this study, we validated our previous data using an independent series (García-Donas J, et al. Lancet Oncol 2011). Methods: 27 metastatic RCC treatment-naive patients, recruited prospectively from January 2010 to May 2011. All the patients received SU standard treatment. A total of 92 of single nucleotide polymorphisms (SNPs) in 34 genes involved in the pharmacokinetic and pharmacodynamic pathways of drugs, were analyzed using Drug inCode pharmacogenetic service. For validation we performed genotyping in 83 samples using the KASPar SNP genotyping system. Results: In patients with CYP1A2*1F and CYP2C19 *2 and *4 polymorphisms, no statistically significant associations were observed, among drug metabolizing genes and toxicity or survival. Catechol-O-methyltransferase(COMT) is involved in the inactivation of several substances suchs as cathecolamines and estrogens and Val(158)Met polymorphism which were associated with PFS and OS, it was observed in our initial study. Met/Met and Val/Met carriers had statistical significant difference in PFS and OS (p = 0.0001 and p = 0.0001, respectively) compared to Val/Val carriers. In the validation series, we were able to confirm the effect on PFS (p = 0.0102). Conclusions: Our preliminary analysis suggested that CYP1A2*1F and CYP2C19*2 and *4polymorphism may be associated with SU toxicity in RCC patients, but findings were not validated in an independent series. However, we could confirm an association between COMT VAl(158)Met polymorphisms and PFS. To our knowledge this is the first study to report COMT polymorphism to be associated with RCC survival.

Development of a simple method for the determination of single nucleotide polymorphisms

2010 ◽  
Vol 34 (8) ◽  
pp. S75-S75
Author(s):  
Weifeng Zhu ◽  
Zhuoqi Liu ◽  
Daya Luo ◽  
Xinyao Wu ◽  
Fusheng Wan
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Simple Method ◽  
Single Nucleotide
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