Asociace polymorfizmů MTHFR 677C>T, 1298A>C a MTR 2756A>G s rizikem rozvoje retinoblastomu

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Autoři: Mohsen Gohari ¹; Alireza Seyed Dastgheib ²; Jamal Jafari-Nedooshan ³; Javad Mohammad Akbarian-Bafghi ⁴; Majid Morovati-Sharifabad ⁵; Reza Seyed Mirjalili ⁶; Hossein Neamatzadeh ^7,8
Působiště autorů: Department of Ophthalmology, Geriatric Ophthalmology Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran ¹; Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Iran ²; Department of Surgery, Shahid Sadoughi University of Medical Sciences, Yazd, Iran ³; Department of Health Care Management, Bam University of Medical Sciences, Iran ⁴; Department of Basic Science, Faculty of Veterinary Medicine, Ardakan University, Iran ⁵; Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran ⁶; Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran ⁷; Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran ⁸
Vyšlo v časopise: Klin Onkol 2019; 32(5): 375-379
Kategorie: Původní článek
doi: https://doi.org/10.14735/amko2019375

Souhrn

Úvod: U různých typů nádorových onemocnění byly studovány polymorfizmy MTHFR 677C>T, 1298A>C a MTR 2756A>G. Role těchto polymorfizmů v rozvoji retinoblastomu však zůstává nejasná. V této studie jsme hodnotili asociaci polymorfizmů MTHFR 677C>T, 1298A>C a MTR 2756A>G s rizikem rozvojem retinoblastomu u dětí v Íránu.

Metody: Pomocí Real-Time PCR systému ABI PRISM 7500 byly zachyceny polymorfizmy MTHFR 677C>T, 1298A>C a MTR 2756A>G u 66 pacientů s retinoblastomem a 99 zdravých kontrolních subjektů odpovídajícího věku a pohlaví. Asociace mezi těmito polymorfizmy a rizikem rozvoje retinoblastomu byla analyzována pomocí poměru šancí s 95% intervalem spolehlivosti.

Výsledky: Naše výsledky ukázaly významnou asociaci mezi polymorfizmem MTR 2756A>G a rizikem rozvojem retinoblastomu. V případě polymorfizmu MTR 2756A>G byly četnosti výskytu genotypu AG (39,4 %) a GG (9,1 %) statisticky významně vyšší v porovnání s kontrolním vzorkem (p < 0,05). U polymorfizmů MTHFR 677C>T a 1298A>C však nebyly pozorovány žádné významné rozdíly ve frekvenci alel nebo genotypové frekvenci mezi pacienty s retinoblastomem a kontrolními subjekty (p > 0,05).

Závěry: Naše výsledky naznačují možnou asociaci polymorfizmu MTR 2756A>G se zvýšeným rizikem rozvoje retinoblastomu u dětí v Íránu. Výsledky však také ukázaly, že polymorfizmy MTHFR 677C>T a 1298A>C nejsou se zvýšeným rizikem rozvoje retinoblastomu významně spojeny.

Klíčová slova:

retinoblastom – dětství – gen MTHFR – gen MTR – jednonukleotidový polymorfizmus

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