Pregled bibliografske jedinice broj: 1258056
ABCG2 and SLCO1B1 polymorphisms in the Croatian population
ABCG2 and SLCO1B1 polymorphisms in the Croatian population // 55th European Society of Human Genetics (ESHG) Conference
Beč, Austrija, 2022. (poster, međunarodna recenzija, neobjavljeni rad, znanstveni)
CROSBI ID: 1258056 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
ABCG2 and SLCO1B1 polymorphisms in the Croatian population
Autori
Karačić, Ena ; Ganoci, Lana ; Šimičević, Livija ; Vrkić Kirhmajer, Majda ; Palić, Jozefina ; Božina, Tamara
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, neobjavljeni rad, znanstveni
Skup
55th European Society of Human Genetics (ESHG) Conference
Mjesto i datum
Beč, Austrija, 11.06.2022. - 14.06.2022
Vrsta sudjelovanja
Poster
Vrsta recenzije
Međunarodna recenzija
Ključne riječi
ABCG2 ; SLCO1B1 ; polymorphism ; frequency
Sažetak
Background: Data on the frequency of pharmacogenetic polymorphisms of drug transporters in the Croatian population are limited. We analysed allele and genotype frequencies of the most common variants of polymorphic drug transporters genes ABCG2 and SLCO1B1 in the Croatian population. Methods: This study included 761 subjects of Caucasian origin, all Croatian ancestry from different parts of Croatia. Genotyping was performed using TaqMan DME Genotyping Assays for ABCG2 c.421C>A (rs2231142) and SLCO1B1 c521T<C (rs4149056) by real-time PCR. We analysed genotyping data from routine pharmacogenetic testing in patients on cardiovascular drugs therapy. Results: For ABCG2 c.421C>A, the variant allele frequency was A=0.09724. 620 subjects (81.5%) were carriers of 421CC, 134 (17.6%) were carriers of 421CA and 7 (0.9%) were carriers of 421AA genotype. For SLCO1B1 c.521T>C, the variant allele frequency was C=0.24456. 468 subjects (61.5%) were carriers of 521TT genotype (normal function phenotype). 264 subjects (34.7%) were carriers of 521TC (intermediated function phenotype), while 29 subjects (3.8%) were carriers of 521CC genotype (low function phenotype). Analysing the combination of ABCG2 c.421C>A and SLCO1B1 c.521T>C revealed that 379 subjects were carriers of at least one decreased transport function allele (49.8%), while 79 (10.4%) were carriers of two or more decreased function alleles. Conclusions: The allele and genotypes frequencies of the ABCG2 c.421C>A and SLCO1B1 c.521T>C in Croatian population are in accordance with the other European populations, and may be used for preemptive actionable pharmacogenetic information.
Izvorni jezik
Engleski
Znanstvena područja
Interdisciplinarne prirodne znanosti, Biotehnologija u biomedicini (prirodno područje, biomedicina i zdravstvo, biotehničko područje)
POVEZANOST RADA
Projekti:
HRZZ-UIP-2020-02-8189 - Uloga farmakogenomike u predviđanju nuspojava kardiovaskularnih lijekova (PGx-CardioDrug) (Božina, Tamara, HRZZ - 2020-02) ( CroRIS)
Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb
Profili:
Lana Ganoci
(autor)
Ena Karačić
(autor)
Tamara Božina
(autor)
Majda Vrkić Kirhmajer
(autor)
Jozefina Palić
(autor)
LIVIJA ŠIMIČEVIĆ
(autor)