Valdimarsson Helgi
Landspítali Háskólasjúkrahús, University Hospital, Hringbraut, 101 Reykjavík, Iceland.
Clin Dermatol. 2007 Nov-Dec;25(6):563-7. doi: 10.1016/j.clindermatol.2007.08.010.
For a complex genetic disease, psoriasis has a high penetration within families and a concordance rate of up to 70% in identical twins. Despite this and the endeavors of many research groups for more than a decade, no susceptibility allele has so far been unequivocally identified, although about 20 genetic loci associated with psoriasis have been reported from linkage-based studies. Moreover, only 1 of these linkage-based loci, PSORS1, that includes the HLA-C gene on chromosome 6p21, has been universally confirmed. Very recent data strongly indicate that HLA-Cw*0602 is the susceptibility allele in this locus, a finding that is consistent with the notion that the pathogenesis of psoriasis involves autoantigen recognition by epidermal CD8+ T lymphocytes. Several candidate genes in some of the other 7 PSORS designated loci are currently being evaluated. The relative lack of success in elucidating the genetic basis of psoriasis highlights the formidable challenge of dissecting the genetic basis of diseases with a complex mode of inheritance.
对于一种复杂的遗传性疾病,银屑病在家族中的外显率很高,同卵双胞胎的一致率高达70%。尽管如此,且许多研究小组历经十多年的努力,但迄今为止,尚未明确鉴定出任何易感等位基因,尽管基于连锁分析的研究已报道了约20个与银屑病相关的基因位点。此外,这些基于连锁分析的基因位点中,只有位于6号染色体p21区包含HLA - C基因的PSORS1已得到普遍证实。最近的数据有力地表明,HLA - Cw*0602是该基因位点的易感等位基因,这一发现与银屑病发病机制涉及表皮CD8 + T淋巴细胞识别自身抗原的观点一致。目前正在评估其他7个指定的PSORS基因位点中的几个候选基因。在阐明银屑病遗传基础方面相对缺乏成功,凸显了剖析具有复杂遗传模式疾病遗传基础的巨大挑战。