
DISTRIBUTION OF THE MOST COMMON GENETIC VARIANTS
ASSOCIATED WITH A VARIABLE DRUG RESPONSE IN THE
POPULATION OF THE REPUBLIC OF MACEDONIA Kapedanovska Nestorovska A1, Jakovski K2, Naumovska Z1, Hiljadnikova Bajro M1,
Sterjev Z1, Eftimov A1, Matevska Geskovska N1, Suturkova L1, Dimitrovski K3,
Labacevski N3, Dimovski AJ *Corresponding Author: Aleksandar J. Dimovski, MD., Ph.D., Center for Biomolecular and Pharmaceutical Analysis,
Faculty of Pharmacy, University Ss Cyril and Methodius, Mother Theresa 47, Skopje 1000, Republic of Macedonia.
Tel: +389-2-3217-580; +389-2-3119-694. Fax: +389-2-3290-830; +389-2-3123 054. E-mail: adimovski@ff.ukim.edu.mk page: 5
|
REFERENCES
1. Ma Q, Lu AY. Pharmacogenetics, pharmacogenomics,
and individualized medicine. Pharmacol
Rev. 2011; 63(2): 437-459.
2. Foster MW, Sharp RR. Race, ethnicity, and genomics:
Social classifications as proxies of biological
heterogeneity. Genome Res. 2002; 12(6): 844-850.
3. Stranger BE, Stahl EA, Raj T. Progress and promise
of genome-wide association studies for human
complex trait genetics. Genetics. 2011; 187(2):
367-383.
4. Li J, Zhang L, Zhou H, Stoneking M, Tang K.
Global patterns of genetic diversity and signals of
natural selection for human ADME genes. Hum
Mol Genet. 2011; 20(3): 528-540.
5. Sistonen J, Fuselli S, Palo JU, Chauhan N, Padh
H, Sajantila A. Pharmacogenetic variation at
CYP2C9, CYP2C19, and CYP2D6 at global and
microgeographic scale. Pharmacogenet Genomics.
2009; 19(2): 170-179.
6. Yang X, Zhang B, Molony C, Chudin E, Hao K,
Zhu J, et al. Systematic genetic and genomic analysis
of cytochrome P450 enzyme activities in human
liver. Genome Res. 2010; 20(8): 1020-1036.
7. McGraw J, Waller D. Cytochrome P450 variations
in different ethnic populations. Expert Opin
Drug Metab Toxicol. 2012; 8(3): 371-382.
8. Sim SC, Kacevska M, Ingelman-Sundberg M.
Pharmacogenomics of drug-metabolizing enzymes:
A recent update on clinical implications
and endogenous effects. Pharmacogenomics J.
2013; 13(1): 1-11.
9. Zhou SF, Liu JP, Chowbay B. Polymorphism of
human cytochrome P450 enzymes and its clinical
impact. Drug Metab Rev. 2009; 41(2): 89-295.
10. Rebsamen MC, Desmeules J, Daali Y, Chiappe
A, Diemand A, Rey C, et al. The AmpliChip
CYP450 test: Cytochrome P450 2D6 genotype
assessment and phenotype prediction. Pharmacogenomics
J. 2009; 9(1): 34-41.
11. Sistonen J, Sajantila A, Lao O, Corander J, Barbujani
G, Fuselli S. CYP2D6 worldwide genetic
variation shows high frequency of altered activity
variants and no continental structure. Pharmacogenet
Genomics. 2007; 17(2): 93-101.
12. Kalow W. Pharmacogenetics: A historical perspective.
In: McLeod HL, DeVane CL, Haga SB,
Johnson JA, Knoel DL, Kolesar JM, et al., Eds.
Pharmacogenomics: Application to Patient Care,
2nd ed. Lenexa, KS: American College of Clinical
Pharmacy. 2009: 22-31.
13. van Schaik RH, van der Heiden IP, van den Anker
JN, Lindemans J. CYP3A5 variant allele frequencies
in Dutch Caucasians. Clin Chem. 2002;
48(10): 1668-1671.
14. Aynacioglu AS, Sachse C, Bozkurt A, Kortunay
S, Nacak M, Schröder T, et al. Low frequency
of defective alleles of cytochrome P450 enzymes
2C19 and 2D6 in the Turkish population. Clin
Pharmacol Ther. 1999; 66(2): 185-192.
15. Buzková H, Pechandová K, Slanar O, Perlik F.
Frequency of single nucleotide polymorphisms of
CYP-2D6 in the Czech population. Cell Biochem
Funct. 2008; 26(1): 76-81.
16. Qumsieh RY, Ali BR, Abdulrazzaq YM, Osman
O, Akawi NA, Bastaki SM. Identification of
new alleles and the determination of alleles and genotypes frequencies at the CYP2D6 gene in
Emiratis. PLoS One. 2011; 6(12): e28943. doi:
10.1371/journal.pone.0028943.
17. Scordo MG, Caputi AP, D’Arrigo C, Fava G,
Spina E. Allele and genotype frequencies of
CYP2C9, CYP2C19 and CYP2D6 in an Italian
population. Pharmacol Res. 2004; 50(2): 195-200.
18. Bozina N, Granić P, Lalić Z, Tramisak I, Lovrić M,
Stavljenić-Rukavina A. Genetic polymorphisms
of cytochromes P450: CYP2C9, CYP2C19, and
CYP2D6 in Croatian population. Croat Med J.
2003; 44(4): 425-428.
19. Arvanitidis K, Ragia G, Iordanidou M, Kyriaki
S, Xanthi A, Tavridou A, et al. Genetic polymorphisms
of drug-metabolizing enzymes CYP2D6,
CYP2C9, CYP2C19 and CYP3A5 in the Greek
population. Fundam Clin Pharmacol. 2007;
21(4): 419-426.
20. Gaikovitch EA, Cascorbi I, Mrozikiewicz PM,
Brockmöller J, Frötschl R, et al. Polymorphisms
of drug-metabolizing enzymes CYP2C9, CYP2C19,
CYP2D6, CYP1A1, NAT2 and of Pglycoprotein
in a Russian population. Eur J Clin
Pharmacol. 2003; 59(4): 303-312.
21. Yamada H, Dahl ML, Lannfelt L, Viitanen M,
Winblad B, Sjoqvist F. CYP2D6 and CYP2C19
genotypes in an elderly Swedish population. Eur
J Clin Pharmacol. 1998; 54(6): 479-481.
22. Falzoi M, Pira L, Lazzari P, Pani L. Analysis
of CYP2D6 allele frequencies and identification
of novel SNPs and sequence variations in
Sardinians. ISRN Genet. 2013; 2013. Article ID
204560; http://dx.doi.org/10.5402/ 2013/204560.
23. Jakovski K, Kapedanovska Nestorovska A, Labacevski
N, Dimovski AJ. Characterization of
the most common CYP2C9 and CYP2C19 allelic
variants in the population of R. Macedonia.
Pharmazie. 2013; 68(11): 893-898.
24. Kapedanovska Nestorovska A, Cvetkovska
Dimitrovska A, Suturkova Lj. Genetic profile of
CYP2C19 polymorphisms in population from
Republic of Macedonia. Macedonian Pharmaceutic
Bull. 2011; 57(Suppl): 346-348.
25. Jakovski K, Kapedanovska Netorovska A, Labacevski
N, Dimovski AJ. Frequency of most
common CYP3A5 polymorphisms in the healthy
population of the Republic of Macedonia. Macedonian
Pharmaceutic Bull. 2012; 58(1-2): 25-31.
26. Hildebrandt MA, Carrington DP, Thomae BA,
Eckloff BW, Schaid DJ, Yee VC, et al. Genetic
diversity and function in the human cytosolic
sulfotransferases. Pharmacogenomics J. 2007;
7(2): 133-143.
27. Horsfall LJ, Zeitlyn D, Tarekegn A, Bekele E,
Thomas MG, Bradman N, et al. Prevalence of
clinically relevant UGT1A alleles and haplotypes
in African populations. Ann Hum Genet. 2011;
75(2): 236-246.
28. Polimanti R, Carboni C, Baesso I, Piacentini S,
Iorio A, De Stefano GF, et al. Genetic variability
of glutathione S-transferase enzymes in human
populations: Functional inter-ethnic differences
in detoxification systems. Gene. 2013; 512(1):
102-107.
29. Sterjev Z, Josifovski T, Panovski M, Sututkova
L, Dimovski AJ. The SULT1A1 allele with low
potential for estrogen inactivation is associated
with reduced colorectal cancer risk in postmenopausal
women. Balkan J Med Genet. 2005; 8(3-4):
43-48.
30. Bajro MH, Josifovski T, Panovski M, Jankulovski
N, Nestorovska AK, Matevska N, et al. Promoter
length polymorphism in UGT1A1 and the risk of
sporadic colorectal cancer. Cancer Genet. 2012;
205(4): 163-167.
31. Sharma R, Hoskins JM, Rivory LP, Zucknick M,
London R, Liddle C, et al. Thymidylate synthase
and methylenetetrahydrofolate reductase gene
polymorphisms and toxicity to capecitabine in
advanced colorectal cancer patients. Clin Cancer
Res. 2008; 14(3): 817-825.
32. Wang H, Wang J, Zhao L, Liu X, Mi W. Methylenetetrahydrofolate
reductase polymorphisms
and risk of acute lymphoblastic leukemia-evidence
from an updated meta-analysis including
35 studies. BMC Med Genet. 2012; 4: 13-77.
33. Acuña M, Eaton L, Cifuentes L, Massardo D.
Genetic variants in the enhancer region of the
thymidylate synthase gene in the Chilean population.
Br J Clin Pharmacol. 2006; 61(6): 778-782.
34. Alzahrani AM, Ragia G, Hanieh H, Manolopoulos
VG. Genotyping of CYP2C9 and VKORC1
in the Arabic Population of Al-Ahsa, Saudi Arabia.
Biomed Res Int. 2013; 2013: 315980. doi:
10.1155/2013/3159980.
35. Matevska N, Josifovski T, Kapedanovska A,
Sterjev Z, Serafimoska Z, Panovski M, et al.
Methylenetetrahydrofolate reductase C677T
polymorphism and risk of colorectal cancer in
the Macedonian population. Balkan J Med Genet.
2008; 11(2):17-24.
36. Kapedanovska Nestorovska A, Sterjev Z, Serafimoska
Z, Josifovski T, Petrusevska N, Suturkova
L, et al. Thymidylate synthase enhancer region
(TSER) 2R/3R polymorphisms as an independent
risk factor for colorectal cancer in Macedonian
population. Macedonian Pharmaceutic Bull.
2011; 57(Suppl): 348-349.
|
|
|
|



 |
Number 26 VOL. 26(1), 2023 |
Number 25 VOL. 25(2), 2022 |
Number 25 VOL. 25 (1), 2022 |
Number 24 VOL. 24(2), 2021 |
Number 24 VOL. 24(1), 2021 |
Number 23 VOL. 23(2), 2020 |
Number 22 VOL. 22(2), 2019 |
Number 22 VOL. 22(1), 2019 |
Number 22 VOL. 22, 2019 Supplement |
Number 21 VOL. 21(2), 2018 |
Number 21 VOL. 21 (1), 2018 |
Number 21 VOL. 21, 2018 Supplement |
Number 20 VOL. 20 (2), 2017 |
Number 20 VOL. 20 (1), 2017 |
Number 19 VOL. 19 (2), 2016 |
Number 19 VOL. 19 (1), 2016 |
Number 18 VOL. 18 (2), 2015 |
Number 18 VOL. 18 (1), 2015 |
Number 17 VOL. 17 (2), 2014 |
Number 17 VOL. 17 (1), 2014 |
Number 16 VOL. 16 (2), 2013 |
Number 16 VOL. 16 (1), 2013 |
Number 15 VOL. 15 (2), 2012 |
Number 15 VOL. 15, 2012 Supplement |
Number 15 Vol. 15 (1), 2012 |
Number 14 14 - Vol. 14 (2), 2011 |
Number 14 The 9th Balkan Congress of Medical Genetics |
Number 14 14 - Vol. 14 (1), 2011 |
Number 13 Vol. 13 (2), 2010 |
Number 13 Vol.13 (1), 2010 |
Number 12 Vol.12 (2), 2009 |
Number 12 Vol.12 (1), 2009 |
Number 11 Vol.11 (2),2008 |
Number 11 Vol.11 (1),2008 |
Number 10 Vol.10 (2), 2007 |
Number 10 10 (1),2007 |
Number 9 1&2, 2006 |
Number 9 3&4, 2006 |
Number 8 1&2, 2005 |
Number 8 3&4, 2004 |
Number 7 1&2, 2004 |
Number 6 3&4, 2003 |
Number 6 1&2, 2003 |
Number 5 3&4, 2002 |
Number 5 1&2, 2002 |
Number 4 Vol.3 (4), 2000 |
Number 4 Vol.2 (4), 1999 |
Number 4 Vol.1 (4), 1998 |
Number 4 3&4, 2001 |
Number 4 1&2, 2001 |
Number 3 Vol.3 (3), 2000 |
Number 3 Vol.2 (3), 1999 |
Number 3 Vol.1 (3), 1998 |
Number 2 Vol.3(2), 2000 |
Number 2 Vol.1 (2), 1998 |
Number 2 Vol.2 (2), 1999 |
Number 1 Vol.3 (1), 2000 |
Number 1 Vol.2 (1), 1999 |
Number 1 Vol.1 (1), 1998 |
|
|
|