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SCI-Expanded Özgün Makale Scopus
Pharmacogenomic analysis and clinical annotation of 635 patients
Personalized Medicine 2025 Cilt 22 Sayı 3
Scopus Eşleşmesi Bulundu
22
Cilt
151-160
Sayfa
Scopus Yazarları: Ozkan Bağcı, Batuhan Şanlıtürk, Ebru Marzioǧlu Özdemir, Nadir Koçak, Tülün Cora
Özet
Aim: In this study, we aimed to reveal the sequence analysis of 69 pharmacogenes in 635 patients and the clinical explanation of variants. Materials and methods: Genomic DNA was isolated from peripheral blood of patients. Next-Generation Sequence analysis and bioinformatic analysis were performed to identify 69 pharmacogene variants. Variants with clinical annotation were identified. Results: Analysis of 69 pharmacogenes in a total of 635 patients identified 9485 variants. The number of distinct variants identified in each gene was 1409. Of these 1409 variants, the number of variants registered in PharmGKB was 126. Among the 126 variants registered in PharmGKB, 26 variants were identified that had a direct association with clinical annotation and drug efficacy or toxicity. The most common variant genes were DPYD, CYP2C19, VKORC1,UGT1A1, RYR1 and MTHFR. These 26 variants with clinical annotation were identified in 327 (51%) different individuals. Conclusions: Such a high frequency of critical variants (51%) points to the need for pharmacogenetic studies. The results are extremely important in terms of determining the drug dose according to the genomic status of individuals receiving drug therapy and preventing unnecessary health expenditures.
Anahtar Kelimeler (Scopus)
drug efficacy drug toxicity personalized medicine pharmacogenetics pharmacogenes Pharmacogenomics

Anahtar Kelimeler

drug efficacy drug toxicity personalized medicine pharmacogenetics pharmacogenes Pharmacogenomics

Makale Bilgileri

Dergi Personalized Medicine
ISSN 1741-0541
Yıl 2025 / 4. ay
Cilt / Sayı 22 / 3
Sayfalar 151 – 160
Makale Türü Özgün Makale
Hakemlik Hakemli
Endeks SCI-Expanded
Yayın Dili Türkçe
Kapsam Uluslararası
Toplam Yazar 5 kişi
Erişim Türü Basılı+Elektronik
Erişim Linki Makaleye Git
Alan Sağlık Bilimleri Temel Alanı Tıbbi Genetik

YÖKSİS Yazar Kaydı

Yazar Adı BAĞCI ÖZKAN,şanlıtürk batuhan,MARZİOĞLU ÖZDEMİR EBRU,KOÇAK NADİR,ÇORA TÜLÜN
YÖKSİS ID 8748959