Naslov
CCR5 Δ32 and CTLA-4 +49A/G gene polymorphisms and interferon-β treatment response in multiple sclerosis patients

Autori
Starčević Čizmarević N, Lovrečić L, Gašparović- Curtini I, Janko-Labinac D, Kapović M, Peterlin B, Ristić

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
11th ISABS Conference on Forensic and Anthropologic Genetics / Croatian congress of human genetics / - Zagreb, 2019, 352-352

ISBN
978-953-57695-3-8

Skup
11th ISABS Conference on Forensic and Anthropologic Genetics and Mayo Clinic Lectures in Individualized Medicine

Mjesto i datum
Split, Hrvatska, 17.06.2019. - 22.06.2019

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
CCR5 Δ32, CTLA-4 +49A/G, gene polymorphism, multiple sclerosis, IFN-β treatment response

Sažetak
OBJECTIVE: Interferon-beta (IFN-β) is widely used as the first-line disease-modifying treatment for multiple sclerosis (MS), although 30–50% of MS patients do not respond to this therapy. Identification of genetic variants that predict responsiveness to IFN-β could be useful for treatment prognosis. The aim of this study was to explore the impact of CCR5 Δ32 and CTLA-4 +49A/G gene polymorphisms to IFN-β treatment response in Croatian and Slovenian MS patients. MATERIAL AND METHODS: A total of 280 IFN-β–treated MS patients (214 female ; 66 male) were genotyped by polymerase chain reaction for CCR5 Δ32 and polymerase chain reaction-restriction fragment length polymorphisms for CTLA-4 +49A/G gene polymorphisms. Patients were diagnosed with relapse-onset MS according to revised McDonald criteria. Based on clinical criteria for efficiency of MS treatment they were classified as responders, Rs (N=164) and non-responders, NRs (N=116). RESULTS: No significant differences in genotype distributions or allelic frequencies of CCR5 Δ32 and CTLA-4 +49A/G polymorphisms were found between Rs and NRs patients. However, we observed a trend to a greater prevalence of CTLA-4 +49AA genotype in Rs (41.5%) compared to NRs (28.6%) among female patients (p=0.053 ; OR=1.77 ; 95% CI: 0.99- 3.16). Also, a trend to a greater prevalence of CCR5 wt/wt genotype with CTLA-4 +49G allele in NRs (62.6%) compared to Rs (42.6%) among female patients (p=0.059 ; OR=1.70 ; 95% CI: 0.98– 2.96) was observed. CONCLUSION: Our results indicate that the carriage of CCR5Δ32 mutation was not associated with IFN-β treatment response in MS patients. However, study demonstrates positive correlation of CTLA-4 +49AA genotype with response to IFN-β treatment in female MS patients. Further studies of CTLA- 4 +49A/G polymorphisms in different populations are necessary to evaluate the potential effect of this gene.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA