Vztah mezi polymorfizmy genů nukleotidové excizní reparace a náchylností ke kožnímu melanomu
Authors:
A. Hashemzehi 1; M. Ghadyani 2; F. Asadian 3; S. A. Dastgheib 4; S. Kargar 5; H. Neamatzadeh 6,7; E. Akbarian 8; A. Emarati 8
Authors‘ workplace:
Department of Pharmacology, Faculty of Pharmacology, Tehran University of Medical Sciences, Tehran, Iran
1; Department of Advanced Medical Sciences and Technologies, Islamic Azad University, Science and Research Branch, Tehran, Iran
2; Department of Medical Laboratory Sciences, School of Paramedical Science, Shiraz University of Medical Sciences, Shiraz, Iran
3; Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
4; Department of General Surgery, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
5; Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
6; Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
7; Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
8
Published in:
Klin Onkol 2021; 34(5): 350-355
Category:
Reviews
doi:
https://doi.org/10.48095/ccko2021350
Overview
Východiska: Účinky jednonukleotidových polymorfizmů (single nucleotide polymorphisms – SNPs) genů nukleotidové excizní reparace (nucleotide excision repair – NER) na náchylnost ke kožnímu melanomu (cutaneous melanoma – CM) jsou předmětem velkého zájmu. V současné době je v několika epidemiologických studiích hodnoceno, zda polymorfizmy XPC, XPD, XPG a XPF souvisí s CM. Výsledky těchto studií jsou ale kontroverzní nebo nevedou k jednoznačnému závěru. Proto jsme provedli studii s cílem zhodnotit vztah mezi sedmi často zkoumanými polymorfizmy dráhy NER a rizikem CM. Metody: Do studie bylo zařazeno celkem 150 patients s diagnózou CM a 150 zdravých kontrol. Sedm SNPs dráhy NER vč. XPC (Lys939Gln a Ala499Val), XPD (Lys157Gln, Asp272Asn a Arg751Arg), XPG (Asp1104His) a XPF (Arg415Gln) bylo analyzováno stanovením polymorfizmu délky štěpných fragmentů pomocí polymerázové řetězové reakce. Výsledky: Mezi polymorfizmy XPC Lys939Gln, Ala499Val, XPD Asp272Asn, Arg751Arg, Arg751Arg, XPF Arg415Gln a XPG Asp1104His a zvýšeným rizikem CM nebyl zjištěn významný vztah. Závěry: Tato studie odhalila, že polymorfizmy XPC, XPD, XPG a XPF nebyly pro náchylnost k CM rizikovým faktorem. Pro další hodnocení a validaci našich výsledků je třeba více studií s dobrým designem a vyšším počtem subjektů v různých populacích. Přesnější důkazy a další objasnění vlastního mechanizmu CM přinesou v budoucnosti studie, které budou brát v úvahu interakce mezi geny jako takovými a mezi geny a prostředím.
Klíčová slova:
jednonukleotidový polymorfizmus – kožní melanom – nukleotidová excizní reparace – vztah
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