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The genetic basis of psoriasis.

机译:牛皮癣的遗传基础。

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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 diseaseswith a complex mode of inheritance.
机译:对于复杂的遗传性疾病,牛皮癣在家庭中具有较高的渗透率,同卵双胞胎的一致性高达70%。尽管有这种方法,并且许多研究小组已经进行了十多年的努力,但是迄今为止,还没有明确鉴定出易感性等位基因,尽管从基于连锁的研究中已经报道了约20个与牛皮癣相关的遗传基因座。此外,这些基于连锁的基因座PSORS1中只有1个被普遍证实,其中PSORS1在6p21染色体上包含HLA-C基因。最近的数据强烈表明,HLA-Cw * 0602是该基因座中的易感性等位基因,这一发现与牛皮癣的发病机理涉及表皮CD8 + T淋巴细胞对自身抗原的识别这一观念是一致的。目前正在评估其他7个PSORS指定基因座中的一些候选基因。在阐明牛皮癣的遗传基础方面相对缺乏成功,突出了剖析具有复杂遗传模式的疾病的遗传基础的巨大挑战。

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