Nature Genetics：多痣者易患黑色素瘤

赵晨光

最新研究表明身上长有很多痣的人易患黑色素瘤。黑色素瘤是三种最严重的皮肤癌之一，欧洲和澳洲科学家组成的研究小组通过对比一万人的三十万个单核苷酸多态位点发现有两个基因变异会导致多痣及黑色素瘤。这是科学家首次找到多痣与皮肤癌联系的遗传证据。以前认为多数确诊患有黑色素瘤的病例多是天生红色头发和面部长有较多雀斑，过多的阳光直射也会造成黑色素瘤。但是通过研究发现人类9号和22号染色体上的某些基因变异会导致黑色素瘤发生，这些基因与肤色的差异无关。同样的基因变异也会使人体出现多痣的情况。研究人员表示，皮肤癌发生的机理和主要原因仍然不是非常清楚，希望通过进一步研究能够查明皮肤癌发病的诱因，及时发现和治疗癌症。（生物谷Bioon.com）生物谷推荐原始出处：NatureGenetics5July2009|doi:10.1038/ng.411Genome-wideassociationstudyidentifiesthreelociassociatedwithmelanomariskDTimothyBishop1,FlorenceDemenais2,MarkMIles1,MarkHarland1,JohnCTaylor1,EveCorda2,3,JulietteRanderson-Moor1,JoanneFAitken4,Marie-FrancoiseAvril5,EstherAzizi6,BertBakker7,GiovannaBianchi-Scarrà8,BrigitteBressac-dePaillerets9,DonatoCalista10,LisaACannon-Albright11,ThomasChin-A-Woeng12,TadeuszDbniak13,GilliGalore-Haskel6,PaolaGhiorzo8,IvoGut14,JohanHansson15,MarkoHoevar16,VeronicaH?iom15,JohnLHopper17,ChristianIngvar18,PeterAKanetsky19,RichardFKefford20,MariaTeresaLandi21,JulieLang22,JanLubiski13,RonaMackie23,JosepMalvehy24,GrahamJMann20,NicholasGMartin25,GrantWMontgomery25,FransAvanNieuwpoort26,SrdjanNovakovic16,H?kanOlsson18,SusanaPuig24,MarjanWeiss7,WilbertvanWorkum12,DianaZelenika14,KevinMBrown27,AlisaMGoldstein21,ElizabethMGillanders28,AnneBoland14,PilarGalan29,DavidEElder30,NellekeAGruis26,NicholasKHayward25,GMarkLathrop3,14,JenniferHBarrett1&JuliaANewtonBishop1Wereportagenome-wideassociationstudyofmelanomaconductedbytheGenoMELconsortiumbasedon317KtaggingSNPsfor1,650selectedcasesand4,336controls,withreplicationinanadditionaltwocohorts（1,149selectedcasesand964controlsfromGenoMEL,andapopulation-basedcase-controlstudyinLeedsof1,163casesand903controls）.Thegenome-widescreenidentifiedfivelociwithgenotypedorimputedSNPsreachingP<510-7.Threeoftheselociwerereplicated:16q24encompassingMC1R（combinedP=2.5410-27forrs258322）,11q14-q21encompassingTYR（P=2.4110-14forrs1393350）and9p21adjacenttoMTAPandflankingCDKN2A（P=4.0310-7forrs7023329）.MC1RandTYRareassociatedwithpigmentation,frecklingandcutaneoussunsensitivity,well-recognizedmelanomariskfactors.Commonvariantswithinthe9p21locushavenotpreviouslybeenassociatedwithmelanoma.Despitewidevariationinallelefrequency,thesegeneticvariantsshownotablehomogeneityofeffectacrosspopulationsofEuropeanancestrylivingatdifferentlatitudesandshowindependentassociationtodiseaserisk.

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