中华皮肤科杂志 ›› 2018, Vol. 51 ›› Issue (10): 715-719.doi: 10.3760/cma.j.issn.0412-4030.2018.10.002
蔡明龙,王文俊,张学军
收稿日期:2018-04-25
修回日期:2018-05-30
出版日期:2018-10-15
发布日期:2018-10-03
通讯作者:
张学军
E-mail:ayzxj@vip.sina.com
基金资助:Cai Minglong, Wang Wenjun, Zhang Xuejun
Received:2018-04-25
Revised:2018-05-30
Online:2018-10-15
Published:2018-10-03
Contact:
Zhang Xuejun
E-mail:ayzxj@vip.sina.com
摘要： 银屑病病因复杂，发病机制尚未阐明，具有明显的遗传异质性和种族差异性。遗传因素在银屑病的发病中发挥重要作用，特别是随着全基因组关联分析（GWAS）的应用，揭示了一系列银屑病易感基因和通路。
蔡明龙 王文俊 张学军. 银屑病全基因组关联分析与精准医学[J]. 中华皮肤科杂志, 2018, 51(10): 715-719.
Cai Minglong, Wang Wenjun, Zhang Xuejun. Psoriasis: genome-wide association study and precision medicine[J]. Chinese Journal of Dermatology, 2018, 51(10): 715-719.
| ［1］ | Risch N, Merikangas K. The future of genetic studies of complex human diseases［J］. Science, 1996,273（5281）:1516⁃1517.<br /> |
| ［2］ | Klein RJ, Zeiss C, Chew EY, et al. Complement factor H poly⁃morphism in age⁃related macular degeneration［J］. Science, 2005,308（5720）:385⁃389. doi: 10.1126/science.1109557.<br /> |
| ［3］ | Liu Y, Helms C, Liao W, et al. A genome⁃wide association study of psoriasis and psoriatic arthritis identifies new disease loci［J］. PLoS Genet, 2008,4（3）:e1000041. doi: 10.1371/journal.pgen.1000 041.<br /> |
| ［4］ | Capon F, Bijlmakers MJ, Wolf N, et al. Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene［J］. Hum Mol Genet, 2008,17（13）:1938⁃1945. doi: 10.1093/hmg/ddn091.<br /> |
| ［5］ | Zhang XJ, Huang W, Yang S, et al. Psoriasis genome⁃wide association study identifies susceptibility variants within LCE gene cluster at 1q21［J］. Nat Genet, 2009,41（2）:205⁃210. doi: 10.1038/ng.310.<br /> |
| ［6］ | Sun LD, Cheng H, Wang ZX, et al. Association analyses identify six new psoriasis susceptibility loci in the Chinese population［J］. Nat Genet, 2010,42（11）:1005⁃1009. doi: 10.1038/ng.690.<br /> |
| ［7］ | Nair RP, Duffin KC, Helms C, et al. Genome⁃wide scan reveals association of psoriasis with IL⁃23 and NF⁃kappaB pathways［J］. Nat Genet, 2009,41（2）:199⁃204. doi: 10.1038/ng.311.<br /> |
| ［8］ | Hüffmeier U, Uebe S, Ekici AB, et al. Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis［J］. Nat Genet, 2010,42（11）:996⁃999. doi: 10.1038/ng.688.<br /> |
| ［9］ | Ellinghaus E, Ellinghaus D, Stuart PE, et al. Genome⁃wide asso⁃ciation study identifies a psoriasis susceptibility locus at TRAF3IP2［J］. Nat Genet, 2010,42（11）:991⁃995. doi: 10.1038/ng.689.<br /> |
| ［10］ | Strange A, Capon F, Spencer CC, et al. A genome⁃wide asso⁃ciation study identifies new psoriasis susceptibility loci and an interaction between HLA⁃C and ERAP1［J］. Nat Genet, 2010,42（11）:985⁃990. doi: 10.1038/ng.694.<br /> |
| ［11］ | Stuart PE, Nair RP, Ellinghaus E, et al. Genome⁃wide association analysis identifies three psoriasis susceptibility loci［J］. Nat Genet, 2010,42（11）:1000⁃1004. doi: 10.1038/ng.693.<br /> |
| ［12］ | Ellinghaus D, Ellinghaus E, Nair RP, et al. Combined analysis of genome⁃wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci［J］. Am J Hum Genet, 2012,90（4）:636⁃647. doi: 10.1016/j.ajhg.2012.02.020.<br /> |
| ［13］ | Tsoi LC, Spain SL, Knight J, et al. Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity［J］. Nat Genet, 2012,44（12）:1341⁃1348. doi: 10.1038/ng.2467.<br /> |
| ［14］ | Tsoi LC, Spain SL, Ellinghaus E, et al. Enhanced meta⁃analysis and replication studies identify five new psoriasis susceptibility loci［J］. Nat Commun, 2015,6:7001. doi: 10.1038/ncomms8001.<br /> |
| ［15］ | Tsoi LC, Stuart PE, Tian C, et al. Large scale meta⁃analysis characterizes genetic architecture for common psoriasis asso⁃ciated variants［J］. Nat Commun, 2017,8:15382. doi: 10.1038/ncomms15382.<br /> |
| ［16］ | Stuart PE, Nair RP, Tsoi LC, et al. Genome⁃wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture［J］. Am J Hum Genet, 2015,97（6）:816⁃836. doi: 10.1016/j.ajhg.2015.10.019.<br /> |
| ［17］ | Yin X, Low HQ, Wang L, et al. Genome⁃wide meta⁃analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility［J］. Nat Commun, 2015,6:6916. doi: 10. 1038/ncomms7916.<br /> |
| ［18］ | Sheng Y, Jin X, Xu J, et al. Sequencing⁃based approach identified three new susceptibility loci for psoriasis［J］. Nat Commun, 2014,5:4331. doi: 10.1038/ncomms5331.<br /> |
| ［19］ | Zuo X, Sun L, Yin X, et al. Whole⁃exome SNP array identifies 15 new susceptibility loci for psoriasis［J］. Nat Commun, 2015,6:6793. doi: 10.1038/ncomms7793.<br /> |
| ［20］ | Tang H, Jin X, Li Y, et al. A large⁃scale screen for coding variants predisposing to psoriasis［J］. Nat Genet, 2014,46（1）:45⁃50. doi: 10.1038/ng.2827.<br /> |
| ［21］ | Harden JL, Krueger JG, Bowcock AM. The immunogenetics of psoriasis: a comprehensive review［J］. J Autoimmun, 2015,64:66⁃73. doi: 10.1016/j.jaut.2015.07.008.<br /> |
| ［22］ | Chen H, Poon A, Yeung C, et al. A genetic risk score combining ten psoriasis risk loci improves disease prediction［J］. PLoS One, 2011,6（4）:e19454. doi: 10.1371/journal.pone.0019454.<br /> |
| ［23］ | Yin X, Cheng H, Lin Y, et al. A weighted polygenic risk score using 14 known susceptibility variants to estimate risk and age onset of psoriasis in Han Chinese［J］. PLoS One, 2015,10（5）:e0125369. doi: 10.1371/journal.pone.0125369.<br /> |
| ［24］ | Stawczyk⁃Macieja M, Rębała K, Szczerkowska⁃Dobosz A, et al. Evaluation of psoriasis genetic risk based on five susceptibility markers in a population from northern poland［J］. PLoS One, 2016,11（9）:e0163185. doi: 10.1371/journal.pone.0163185.<br /> |
| ［25］ | Kisiel B, Kisiel K, Szymański K, et al. The association between 38 previously reported polymorphisms and psoriasis in a Polish population: High predicative accuracy of a genetic risk score combining 16 loci［J］. PLoS One, 2017,12（6）:e0179348. doi: 10.1371/journal.pone.0179348.<br /> |
| ［26］ | Gallo E, Cabaleiro T, Román M, et al. The relationship between tumour necrosis factor （TNF）⁃α promoter and IL12B/IL⁃23R genes polymorphisms and the efficacy of anti⁃TNF⁃α therapy in psoriasis: a case⁃control study［J］. Br J Dermatol, 2013,169（4）:819⁃829. doi: 10.1111/bjd.12425.<br /> |
| ［27］ | Batalla A, Coto E, González⁃Fernández D, et al. The Cw6 and late⁃cornified envelope genotype plays a significant role in anti⁃tumor necrosis factor response among psoriatic patients［J］. Pharmacogenet Genomics, 2015,25（6）:313⁃316. doi: 10.1097/FPC. 0000000000000136.<br /> |
| ［28］ | Talamonti M, Galluzzo M, Zangrilli A, et al. HLA⁃C*06:02 does not predispose to clinical response following long⁃term adalimu⁃mab treatment in psoriatic patients: a retrospective cohort study［J］. Mol Diagn Ther, 2017,21（3）:295⁃301. doi: 10. 1007/s40291⁃017⁃0261⁃4.<br /> |
| ［29］ | Masouri S, Stefanaki I, Ntritsos G, et al. A pharmacogenetic study of psoriasis risk variants in a Greek population and prediction of responses to anti⁃TNF⁃α and anti⁃IL⁃12/23 agents［J］. Mol Diagn Ther, 2016,20（3）:221⁃225. doi: 10.1007/s40291⁃016⁃0198⁃z.<br /> |
| ［30］ | Prieto⁃Pérez R, Solano⁃López G, Cabaleiro T, et al. New polymorphisms associated with response to anti⁃TNF drugs in patients with moderate⁃to⁃severe plaque psoriasis［J］. Pharmacogenomics J, 2018,18（1）:70⁃75. doi: 10.1038/tpj.2016.64.<br /> |
| ［31］ | Ovejero⁃Benito MC, Prieto⁃Pérez R, Llamas⁃Velasco M, et al. Polymorphisms associated with etanercept response in moderate⁃to⁃severe plaque psoriasis［J］. Pharmacogenomics, 2017,18（7）:631⁃638. doi: 10.2217/pgs⁃2017⁃0014.<br /> |
| ［32］ | Talamonti M, Botti E, Galluzzo M, et al. Pharmacogenetics of psoriasis: HLA⁃Cw6 but not LCE3B/3C deletion nor TNFAIP3 polymorphism predisposes to clinical response to interleukin 12/23 blocker ustekinumab［J］. Br J Dermatol, 2013,169（2）:458⁃463. doi: 10.1111/bjd.12331.<br /> |
| ［33］ | Talamonti M, Galluzzo M, Chimenti S, et al. HLA⁃C*06 and response to ustekinumab in Caucasian patients with psoriasis: outcome and long⁃term follow⁃up［J］. J Am Acad Dermatol, 2016,74（2）:374⁃375. doi: 10.1016/j.jaad.2015.08.055.<br /> |
| ［34］ | Chiu HY, Huang PY, Jee SH, et al. HLA polymorphism among Chinese patients with chronic plaque psoriasis: subgroup analysis［J］. Br J Dermatol, 2012,166（2）:288⁃297. doi: 10.1111/j.1365⁃2133.2011.10688.x.<br /> |
| ［35］ | Li K, Huang CC, Randazzo B, et al. HLA⁃C*06:02 Allele and response to IL⁃12/23 inhibition: results from the ustekinumab phase 3 psoriasis program［J］. J Invest Dermatol, 2016,136（12）:2364⁃2371. doi: 10.1016/j.jid.2016.06.631.<br /> |
| ［36］ | Galluzzo M, Boca AN, Botti E, et al. IL12B （p40） gene polymorphisms contribute to ustekinumab response prediction in psoriasis［J］. Dermatology, 2016,232（2）:230⁃236. doi: 10.1159/ 000441719.<br /> |
| ［37］ | Bojko A, Ostasz R, Bia Bia E, et al. IL12B （p40） gene polymorphisms contribute to usnts in psoriasis susceptibility and response to treatment［J］. Hum Immunol, 2018,79（4）:213⁃217. doi: 10.1016/j.humimm.2018.02.003.<br /> |
| ［38］ | van den Reek JMPA, MJH C, van de L′Isle Arias M, et al. Polymorphisms in CD84, IL12B and TNFAIP3 are associated with response to biologics in patients with psoriasis［J］. Br J Dermatol, 2017,176（5）:1288⁃1296. doi: 10.1111/bjd.15005.<br /> |
| ［39］ | Prieto⁃Pérez R, Llamas⁃Velasco M, Cabaleiro T, et al. Pharmacogenetics of ustekinumab in patients with moderate⁃to⁃severe plaque psoriasis［J］. Pharmacogenomics, 2017,18（2）:157⁃164. doi: 10.2217/pgs⁃2016⁃0122.<br /> |
| ［40］ | Coto⁃Segura P, González⁃Fernández D, Batalla A, et al. Common and rare CARD14 gene variants affect the antitumour necrosis factor response among patients with psoriasis［J］. Br J Dermatol, 2016,175（1）:134⁃141. doi: 10.1111/bjd.14461.<br /> |
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