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Journal of Medical Biochemistry
2013, vol. 32, br. 4, str. 361-367
jezik rada: engleski
vrsta rada: izvorni članak
doi:10.2478/jomb-2013-0049


Uobičajene varijante BCL9 gena i šizofrenija u japanskoj populaciji - studija povezanosti, metaanaliza i analiza kognitivnih funkcija
aNagoya Univ., Nagoya, Japan + Japan Sci & Tech Agency, Tokyo, Japan
bFujita Health Univ., Toyoake, Japan + Japan Sci & Tech Agency, Tokyo, Japan
cSeiwa Hospital, Institute of Neuropsychiatry, Tokyo, Japan
dOkayama Univ., Okayama, Japan
eUniv. of Toyama, Toyama, Japan

e-adresa: branko@med.nagoya-u.ac.jp

Sažetak

Uvod: Šizofrenija je relativno čest poremećaj, sa rasprostranjenošću od oko 1% u ukupnoj populaciji. Porodična istorija bolesti predstavlja najvažniji faktor rizika za nastanak šizofrenije, što je u skladu sa genetičkom osnovom njene etiologije. Nedavne genetičke studije pokazuju da su neke uobičajene varijante u okviru gena BCL9 u vezi sa šizofrenijom u kineskoj populaciji, ali ne i sa bipolarnim poremećajem u populaciji belaca. Metode: Uzorci za analizu tačkastih polimorfizama (SNP) potiču od 575 pacijenata sa šizofrenijom i 564 zdravih kontrolnih subjekata bez lične ili porodične istorije psihijatrijskih oboljenja. Za SNP analizu korišćen je nezavisni japanski set uzorak (replikacioni uzorak) koji sadrži 1464 slučaja bolesti i 1171 kontrolu. Za analizu kognitivnih funkcija, ispitivali smo 115 slučajeva bolesti i 87 kontrolnih slučajeva, korišćenjem kontinualnog testa funkcija (CPT-IP) i Wisconsin Card Sorting testa, Keio verzije (WCST). Metaanaliza je urađena korišćenjem kombinovanog japanskog ukupnog uzorka (N=3735) i kineskog uzorka iz prethodne studije. Rezultati: U replikacionom uzorku nije otkrivena nikakva veza između 2 SNP-a (rs672607 i rs10494252) i šizofrenije. Metaanaliza rs672607 je pokazala njegovu značajnu povezanost sa šizofrenijom (p-vrednost 0,012, 0,855 odds ratio). Utvrđena je značajna (p<0,01) razlika između A/A i G grupe nosilaca rs672607 u CPT srednjoj vrednosti d' (p=0,0092). Zaključak: Dokazana je veza između rs672607 u genu BCL9 i šizofrenije u metaanalizi japanske i kineske populacije. Pored toga, ova zajednička varijanta može da utiče na kognitivne funkcije, što je utvrđeno testom CPT-IP kod šizofrenih bolesnika.

Ključne reči

BCL9; Kinezi; kognitivne funkcije; GWAS; Japanci; metaanaliza; šizofrenija

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