Katarina Vitoševic, Danijela Todorovic, Zivana Slovic, Radica Zivkovic-Zaric and Milos Todorovic
. Brief Bioinform. 2007;8(2): 117-28. [DOI: 10.1093/bib/bbm006].
3. Ziętkiewicz E, Witt M, Daca P et al. Current genetic methodologies in the identification of disaster victims and in forensic analysis. J Appl Genet. 2012;53(1): 41-60. [DOI: 10.1007/s13353-011-0068-7].
4. Pontes ML, Fondevila M, Laréu MV, Medeiros R. SNPMarkers as Additional Information to Resolve Complex Kinship Cases. Transfus Med Hemother. 2015;42(6): 385-388. [DOI: 10.1159/000440832].
5. Decorte R, Cassiman JJ. Forensic medicine and the polymerase chain reaction technique. J Med
Matej Horvat, Uros Potocnik, Katja Repnik, Rajko Kavalar, Vesna Zadnik, Stojan Potrc and Borut Stabuc
practice. 16 , 17
Single nucleotide polymorphisms (SNPs) are molecular factors that might be useful as prognostic markers in CRC. Preliminary genome wide association (GWA) study in non-caucasian population has indicated a role of SNPs in resectable CRC. 18 We hypothesized that SNPs participating in genetic risk for CRC and metastasis might prove as a prognostic factor in resectable CRC. In our study, we have selected SNPs with higher frequency in patients with either local lymph node involvement or systemic dissemination in genes participating in CRC carcinogenesis
Zorica Naumovska, Aleksandra K. Nestorovska, Zoran Sterjev, Ana Filipce, Aleksandar Dimovski and Ljubica Suturkova
antiepileptic drugs. J Pharmacol Exp Ther. 2002; 301: 7-14.
15. Wolf SJ, Bachtiar M, Wang J, Sim TS, Chong SS and Lee CGL, An update on ABCB1 pharmacogenetics: insights from a 3D model into the location and evolutionary conservation of residues corresponding to SNPs associated with drug pharmacokinetics. The Pharmacogenomics Journal. 2011; 11: 315-325.
16. Tang K, Ngoi SM, Gwee PC, Chua JM, Lee EJ, Chong SS et al. Distinct haplotype profiles and strong linkage disequilibrium at the MDR1 multidrug transporter gene locus in three ethnic Asian populations. Pharmacogenetics
K Jasek, V Buzalkova, P Szepe, L Plank and Z Lasabova
-specific PCR primer design method for SNPmarker analysis and its application. Plan Methods 2012; 8 (34).
12. Kang HY, Hwang JY, Kim SH et al. Comparison of allele specific oligonucleotide-polymerase chain reaction and direct sequencing for high throughput screening of ABL kinase domain mutations in chronic myeloid leukemia resistant to imatinib. Haematologica 2006; 91 (5): 659-662.
13. Krieken Van JH, Jung A, Kirchner T et al. KRAS mutation testing for predicting response to anti-EGFR therapy for colorectal carcinoma: proposal for an European quality assurance
Agnieszka Maciejewska-Skrendo, Paweł Cięszczyk, Jakub Chycki, Marek Sawczuk and Wojciech Smółka
and vertical jump performance. All these observations implicate that rs41274853 SNP may be associated with sprint/power athletes status, but without more comprehensive studies and confirmations of the trends in allele and genotype frequencies, it will be rather a potential than a true marker.
2) Markers involved in the inflammatory and repair reactions in skeletal muscle during and after exercise
Inflammation may serve as a mechanism promoting skeletal muscle repair and hypertrophy. The inflammation processes are accompanied by upregulation of interleukins
Tran Quang Binh, Vu Thi Thu Hien, Nguyen Cong Khan, Nguyen Thi Lam, Le Bach Mai, Masayo Nakamori and Shigeru Yamamoto
Background: Both in vitro and in vivo studies have shown that calcitriol, the active form of vitamin D, is involved in hematopoiesis. Vitamin D receptor (VDR) gene has been suggested as one of the candidate genes for anemia. Objective: Investigate relationship between anemia and the commonly studied polymorphisms of VDR gene (FokI, BsmI, ApaI and TaqI) in terms of genotype and haplotype in Vietnamese. Methods: A case-control study including 132 postmenopausal women without chronic kidney diseases was designed to investigate the relationship between VDR polymorphism and anemia. Four single nucleotide polymorphisms (SNPs) FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) were typed by polymerase chain reaction and restriction fragment length polymorphism method. Results: Genotype distributions of four SNPs were in Hardy-Weinberg equilibrium in both anemia and control groups. The SNPs at the 3’end of the VDR gene (BsmI, ApaI and TaqI) exhibited a strong linkage disequilibrium. There was no significant association between anemia and VDR polymorphism in terms of allele, genotype, and haplotype in the analyses unadjusted or adjusted for the covariates (age, body mass index, educational level, serum ferritin, iron and albumin). Conclusion: VDR gene did not influence anemia in postmenopausal women without chronic kidney disease. For further study on the association between VDR gene and anemia, the use of larger sample size, a prospective study design, and additional markers would enhance the reliability and validity of findings.
both somatic and germline (inherited) mutations in 632 genes, associated with the appearance of solid tumors and drug response, b) TMB (Tumor Mutation Burden) score associated with the response to immunotherapy and, c) level of Microsatellite Instability (MSI). Mutations include SNPs (Single Nucleotide Polymorphisms), small insertions/deletions (indels), large insertions/deletions (Copy Number variations, CNVs) and selected fusions (ALK, VBRAF, FGFR, NRG1, NTRK, RET and ROS1 fusions). It is conducted using NGS technology and it can be applied in all solid tumors such
. Makharia GK, Tandon RK. Emergence of Celiac Disease and Crohn’s Disease in India. Medicine Update. 2008;. 18:250-6.
17. Farmer RG, Hawk WA, Turnbull RB Jr. Clinical patterns in Crohn’s disease: a statistical study of 615 cases. Gastroenterology. 1975; 68:627-35.
18. Vermeire S, Van Assche G, Rutgeerts P. Laboratory markers in IBD: Useful, magic, or unnecessary toys?. Gut. 2006; 55:426-31.
19. Colombel JF, Solem CA, Sandborn WJ, Booya F, Loftus EV Jr, Harmsen WS, et al. Quantitative measurement and visual assessment of ileal
Danijela Strbac, Katja Goricar, Vita Dolzan and Viljem Kovac
(SNPs) as potential markers of treatment response. 7 We identified MMP9 rs2250889, MMP9 rs20544 , MMP14 rs1042703 as statistically significantly associated with overall survival (OS) in MM. Carriers of the polymorphic MMP9 rs2250889 and MMP14 rs1042703 alleles had shorter OS, compared to non-carriers, while carriers of polymorphic MMP9 rs20544 allele had longer OS. 7
Many studies investigated the role of MMP polymorphisms in the baseline genetic risk for common diseases and tumours, however, the role of MMP polymorphisms was found to be conflicting