Pharmaceuticals· 2026Q1
Bulgaristan Popülasyonunda Kemoterapi Yanıtı ile İlişkili Popülasyona Özgü Farmakogenetik Varyantlar
Population-Specific Pharmacogenetic Variants Associated with Chemotherapy Response in the Bulgarian Population
- 0atıf
- Q1SCImago
- 2026yıl
Kısa özet
Altı farmakogenetik varyant, Bulgaristan popülasyonunda referans veritabanlarına kıyasla istatistiksel olarak anlamlı farklı allel frekansları göstermektedir; XPC c.2815C>A en güçlü popülasyona özgü paterni sergilemektedir.
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Ana noktalar
- Altı farmakogenetik varyantın, referans popülasyonlara kıyasla Bulgaristan kohortunda istatistiksel olarak anlamlı farklı allel frekanslarına sahip olduğu bulundu.
- Beş varyant (DPYD c.2194G>A, XPC c.2815C>A, EGFR c.1562G>A, XRCC1 c.1196A>G, ERCC2 c.2251A>C) Bulgarlarda daha sık görüldü.
- ERCC2 c.934G>A, Bulgaristan kohortunda daha az sıklıkta görüldü.
- XPC c.2815C>A, hassasiyet analizleri boyunca en tutarlı popülasyona özgü allel frekansı paterni sergiledi.
- Çalışmada yeni nesil dizileme kullanılarak 90 birey (50 kanser hastası, 40 sağlıklı kontrol) analiz edildi.
Yapay zekâ ile başlık ve abstract'tan üretildi; tam metin okunmaz.
Özet (abstract)
Background/Objectives: Pharmacogenetic variability influences the efficacy and toxicity of anticancer therapies. However, Eastern European populations remain underrepresented in pharmacogenetic databases. This study aimed to characterize pharmacogenetic variants relevant to chemotherapy response in the Bulgarian population and compare their allele frequencies with reference populations. Methods: Ninety individuals were included, comprising 50 patients with colorectal, non-small cell lung, or breast cancer and 40 healthy controls. Genomic DNA and circulating cell-free DNA were analyzed by next-generation sequencing targeting pharmacogenetic genes involved in drug metabolism, transport, and DNA repair. Allele frequencies were compared with gnomAD v2.1.1 reference data. Sensitivity analyses compared Bulgarian controls with Bulgarian non-cancer and combined Southern European, Northwestern European, and Other non-Finnish European non-cancer populations. Results: Twenty-three pharmacogenetic variants were evaluated. Six variants remained statistically significant after Benjamini–Hochberg correction in both Fisher’s exact test and the two-proportion Z-test. Five variants—DPYD c.2194G>A, XPC c.2815C>A, EGFR c.1562G>A, XRCC1 c.1196A>G, and ERCC2 c.2251A>C—showed higher allele frequencies, whereas ERCC2 c.934G>A was less frequent in the Bulgarian cohort. DPYD c.85T>C remained significant after correction in the Z-test but not in Fisher’s exact test. Sensitivity analyses confirmed the significance of XPC c.2815C>A in both reference-population comparisons, while DPYD c.85T>C remained significant only against the combined European reference population. Conclusions: Several pharmacogenetic variants showed distinct allele frequencies in the Bulgarian cohort. XPC c.2815C>A demonstrated the most robust population-specific pattern across sensitivity analyses. These findings highlight the value of locally derived pharmacogenetic data for precision oncology and pharmacogenetically guided treatment strategies.
Yazarların özeti; kaynağından alınmıştır. Pharmaceuticals, 2026 · DOI ↗
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Alan: Farmakoloji (Farmakoloji, Toksikoloji ve Eczacılık)
PharmacologyPharmacology, Toxicology and Pharmaceutics