Vztah mezi polymorfizmy genů nukleotidové excizní reparace a náchylností ke kožnímu melanomu

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Autoři: 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
Působiště autorů: 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
Vyšlo v časopise: Klin Onkol 2021; 34(5): 350-355
Kategorie: Přehledy
doi: https://doi.org/10.48095/ccko2021350

Souhrn

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

Zdroje

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