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Progress in spondylarthritis. Progress in studies of the genetics of ankylosing spondylitis

机译:脊椎炎的进展。强直性脊柱炎的遗传学研究进展

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摘要

The advent of high-throughput SNP genotyping methods has advanced research into the genetics of common complex genetic diseases such as ankylosing spondylitis (AS) rapidly in recent times. The identification of associations with the genes IL23R and ERAP1 have been robustly replicated, and advances have been made in studies of the major histocompatibility complex genetics of AS, and of KIR gene variants and the disease. The findings are already being translated into increased understanding of the immunological pathways involved in AS, and raising novel potential therapies. The current studies in AS remain underpowered, and no full genomewide association study has yet been reported in AS; such studies are likely to add to the significant advances that have already been made.
机译:高通量SNP基因分型方法的出现,近年来对诸如强直性脊柱炎(AS)等常见的复杂遗传疾病的遗传学进行了深入的研究。与IL23R和ERAP1基因的关联的鉴定已被可靠地复制,并且在AS的主要组织相容性复合体遗传学,KIR基因变异和疾病的研究方面取得了进展。这些发现已经转化为对AS涉及的免疫途径的更多了解,并提出了新的潜在疗法。目前在AS方面的研究仍未得到足够的支持,并且AS中尚未报道完整的全基因组关联研究。这些研究可能会增加已经取得的重大进展。

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