- Tidigare var 15 gener identifierade, så i antal är det ett stort tillskott. Detta ger oss ledtrådar för funktionella studier och bättre förutsättningar att se sammanhang i cellen som har betydelse för SLE. Bättre förståelse är dessutom på sikt ett steg närmare läkemedel. Däremot förklarar de nyupptäckta generna en väldigt liten del av ärftligheten i sjukdomen. De femton tidigare kända generna förklarar ungefär 15 procent, vilket var väldigt högt. De tolv nya generna gör att kanske 20 procent av ärftligheten kan förklaras, men de fungerar inte som diagnostisk metod. Det är för osäkert.
Totalt 6 000 patienter och friska frivilliga ingick i den svensk-amerikanska studien, som upptäckte fem nya gener. Hur är det att jobba i så stora projekt?
Det är jättestora datamängder. Vi har arbetat med en teknikplattform med fin utrustning som hjälper oss att göra analysen. Förutom det krävs stora datorer och datorresurser. Det är många krävande statisktiska analyser. USA-forskarna gjorde runt 60 procent av studien och vi 40 procent. Vi analyserade resultaten från svenska patienter och de amerikanska forskarna de från amerikaner. Sedan kombinerade vi resultaten. Det är ändå inte bra att kombinera rådata mellan popluationer.
Varför kallas SLE en modellsjukdom för autoimmuna sjukdomar?
Det är en sjukdom med många olika symptom, som man kan hitta i andra utoimmuna sjukdomar. Den påverkar så många organ och troligen finns ett överlapp mellan de autoimmuna sjukdomarna. När alla gener är identifierade kan det komma att bli nya indelningar av de här sjukdomarna.
Hur går du och din grupp vidare nu?
Ett viktigt och krävande sätt att fortsätta blir att studera genernas funktioner och expression och cellbiologiska studier. Vi kommer att försöka reda ut om riskallelen vi har identifierat överuttrycks eller är avstängd eller hur den fungerar.








































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