牛皮癬是一種常見的發(fā)炎性皮膚病，2%的世界人口會(huì)罹患這種疾病,。在12月在線出版的《自然—遺傳學(xué)》（Nature Genetics）期刊上，一篇論文報(bào)告說(shuō),，攜帶多余版本的小抗菌蛋白質(zhì)編碼基因的個(gè)體患牛皮癬的風(fēng)險(xiǎn)更高,。
最近，科學(xué)家們發(fā)現(xiàn),，部分個(gè)體攜帶兩個(gè)版本以上的某種基因,，也有一些人攜帶得更少,，他們推測(cè)這些“復(fù)制數(shù)字變異”可能會(huì)影響個(gè)體患上牛皮癬的風(fēng)險(xiǎn)。在某個(gè)區(qū)域,，某些種群的個(gè)體攜帶了2~12個(gè)基因版本,，這些基因負(fù)責(zé)編碼分泌性蛋白質(zhì)β-防衛(wèi)素。因?yàn)?beta;-防衛(wèi)素是在皮膚上被表達(dá),，所以當(dāng)感染或其他環(huán)境觸發(fā)因子出現(xiàn)時(shí)會(huì)引發(fā)炎癥,。
John Armour和同事推測(cè)，β-防衛(wèi)素基因復(fù)制數(shù)量的變化可能影響了牛皮癬出現(xiàn)的風(fēng)險(xiǎn),。在包括荷蘭和德國(guó)科學(xué)家所作的兩個(gè)獨(dú)立研究中,，作者發(fā)現(xiàn)從平均數(shù)量上看，牛皮癬患者比正常人擁有更多版本的β-防衛(wèi)素基因,。
β-防衛(wèi)素是先天性免疫系統(tǒng)的組成部分,，能保護(hù)個(gè)體免遭感染的侵襲。它們能迅速引導(dǎo)針對(duì)感染或受傷的反應(yīng),，并觸發(fā)其他蛋白質(zhì)如白細(xì)胞介素IL-8,、IL-18和IL-20的釋放，促成炎癥,，這就是牛皮癬,。（來(lái)源：科學(xué)時(shí)報(bào) 王丹紅／編譯）
原始出處:
Nature Genetics
Published online: 2 December 2007 | doi:10.1038/ng.2007.48
Psoriasis is associated with increased -defensin genomic copy number
Edward J Hollox1, Ulrike Huffmeier2, Patrick L J M Zeeuwen3, Raquel Palla4, Jesús Lascorz2, Diana Rodijk-Olthuis3, Peter C M van de Kerkhof3, Heiko Traupe5, Gys de Jongh3, Martin den Heijer6, André Reis2, John A L Armour4,7 & Joost Schalkwijk3,7
Psoriasis is a common inflammatory skin disease with a strong genetic component. We analyzed the genomic copy number polymorphism of the -defensin region on human chromosome 8 in 179 Dutch individuals with psoriasis and 272 controls and in 319 German individuals with psoriasis and 305 controls. Comparisons in both cohorts showed a significant association between higher genomic copy number for -defensin genes and risk of psoriasis.
Department of Genetics, University of Leicester, Leicester LE1 7RH, UK.
Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, 91054 Erlangen, Germany.
Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Molecular Life Sciences, 652 GA Nijmegen, The Netherlands.
Institute of Genetics, University of Nottingham, Nottingham NG7 2UH, UK.
Department of Dermatology, University of Münster, NG7 2UH Münster, Germany.
Department of Endocrinology and Department of Epidemiology and Biostatistics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.
These authors contributed equally to this work.
Correspondence to: John A L Armour4,7 e-mail: [email protected]
