Ispitivanjem udruženih genoma mitohondrijske DNK kod Kineza prepoznaje se sedam novih lokusa za visinski edem pluća

  • Caizhi Tang Army Medical University, Army Medical Service Training Base, Department of Military Medical Geography, Chongqing, China
  • Yu Chen Army Medical University, Army Medical Service Training Base, Department of Military Medical Geography, Chongqing, China
  • Xinyuan Liu Army Medical University, Army Medical Service Training Base, Department of Military Medical Geography, Chongqing, China
  • Zhuang Ran Army Medical University, Army Medical Service Training Base, Department of Military Medical Geography, Chongqing, China Army Medical Service Training Base, Amy Medical University, Chongqing 400038, China
  • Yongjun Luo Army Medical University, Army Medical Service Training Base, Department of Military Medical Geography, Chongqing, China
Ključne reči: genetičke tehnike;, genom;, hipoksija;, polimorfizam, genetički;, plućni edem;, plućni edem planinara

Sažetak


Uvod/Cilj. Visinski edem pluća [high-altitude pulmonary oedema (HAPE)], koji se obično javlja na visinama većim od 3 000 m usled hipoksije, potencijalno je smrtonosna bolest. Uloga mitohondrijskih genoma u određivanju podložnosti pojedinca na HAPE nije određena. Međutim, nedavno je otkriveno da je veliki broj genetskih polimorfizama prekomerno zastupljen kod bolesnika sa HAPE. Većina objavljenih studija vezanih za genom istraživala je samo mali broj najčešćih jednonukleotidnih polimorfizama [single-nucleotide polymorphisms (SNPs)/gena] pregledom nuklearne DNK i razmotrila svaki od identifikovanih SNPs/gena nezavisno. Malo istraživanja je sprovedeno na mitohondrijskim genima kod bolesnika sa recidivantnim HAPE. Metode. Da bi se identifikovali biološki putevi važni za pojavu HAPE, ispitano je približno 500 000 SNPs genoma iz 10 nepovezanih slučajeva recidivantnih HAPE, i ti SNPs su upoređeni sa onima iz populacije Kineza, stanovnika Pekinga (n = 45; kontrolna grupa) kako bi se utvrdila povezanost između genotipova i osetljivost na HAPE među genima koji se odnose na funkciju mitohondrija. Korišćena je platforma FUMA u cilju proširenja lepeza SNPs na odabrane SNPs kandidate. Rezultati. Ukupno je dobijeno 369 SNPs kandidata, 4 vodeća SNPs, 4 lokusa genomskog rizika i 5 mapiranih gena. Mapirano  je ukupno 7 gena: ADAMTS9-AS2, NEK1, CLCN3, C4orf27 (HPF1), RP11-219J21.2, ANKRD26 i IME1L1. Zaključak. Studija potvrđuje povezanost ADAMTS9-AS2, NEK1, CLCN3, C4orf27 (HPF1), RP11-219J21.2, ANKRD26 i IME1L1 sa HAPE, što obezbeđuje buduće ciljeve za lečenje te bolesti.

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Objavljeno
2022/01/25
Rubrika
Kratko saopštenje