FREQUENCIES OF SINGLE-NUCLEOTIDE POLYMORPHISMS
AND HAPLOTYPES OF THE SLCO1B1 GENE IN SELECTED
POPULATIONS OF THE WESTERN BALKANS
Daka Grapci A1, Dimovski AJ2, Kapedanovska A2, Vavlukis M3, Eftimov A2, Matevska
Geshkovska N2, Labachevski N4, Jakjovski K4, Gorani D5, Kedev S3, Mladenovska K2,*
*Corresponding Author: Professor Kristina Mladenovska, Faculty of Pharmacy, Center for Biomolecular Pharmaceutical
Analyses, University “Ss Cyril and Methodius” in Skopje, Blv. “Mother Theresa” 47, 1000 Skopje,
Republic of Macedonia. Tel: +389-2-3126-032. Fax: +389-2-3132-015. E-mail: krml@ff.ukim.edu.mk
page: 5
download article in pdf format
|
|
Abstract
As a membrane influx transporter, organic anion-
transporting polypeptide 1B1 (OATP1B1) regulates
the cellular uptake of a number of endogenous
compounds and drugs. The aim of this study was to
characterize the diversity of the solute carrier organic
anion transporter family member 1B1 (SLCO1B1)
gene encoding this transporter in two ethnic groups
populating the Western Balkans. The distribution of
SCLO1B1 alleles was determined at seven variant
sites (c.388A>G, c.521T>C, c.571T>C, c.597C>T,
c.1086C>T, c.1463G>C and c.*439T>G) in 266
Macedonians and 94 Albanians using the TaqMan
allelic discrimination assay. No significant difference
in the frequencies of the single nucleotide polymorphisms
(SNPs) was observed between these populations.
The frequency of the c.521T>C SNP was
the lowest (<13.7 and 12.2%, respectively), while
the frequencies of all other SNP alleles were above
40.0%. Variant alleles of c.1463G>C and c.1086
C>T SNPs were not identified in either ethnic group.
The haplotype analysis revealed 20 and 21 different
haplotypes in the Macedonian and Albanian population,
respectively. The most common haplotype in
both ethnic groups, *1J/*1K/*1L, had a frequency
of 39.0% and 26.6%, respectively. In both populations,
the variant alleles of the functionally significant
c.521T>C and c.388A>G SNPs existed in one major
haplotype (*15/*16/*17), with a frequency of 8.6
and 2.4% in the Macedonian and Albanian subjects,
respectively. In conclusion, sequence variations of
the SLCO1B1 gene in the studied populations occur
at high frequencies, which are similar to that of the
Caucasian population. Further studies are needed to
evaluate the clinical significance of these SNPs and/
or the major SLCO1B1 haplotypes they form for a
large number of substrates and for susceptibility to
certain diseases.
|
|
|
|
 |
Number 27
VOL. 27 (2), 2024 |
Number 27
VOL. 27 (1), 2024 |
Number 26
Number 26 VOL. 26(2), 2023 All in one |
Number 26
VOL. 26(2), 2023 |
Number 26
VOL. 26, 2023 Supplement |
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 |
|
|
