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银屑病与β-防御素基因组拷贝数增加有关。

Psoriasis is associated with increased beta-defensin genomic copy number.

作者信息

Hollox Edward J, Huffmeier Ulrike, Zeeuwen Patrick L J M, Palla Raquel, Lascorz Jesús, Rodijk-Olthuis Diana, van de Kerkhof Peter C M, Traupe Heiko, de Jongh Gys, den Heijer Martin, Reis André, Armour John A L, Schalkwijk Joost

机构信息

Department of Genetics, University of Leicester, Leicester LE1 7RH, UK.

出版信息

Nat Genet. 2008 Jan;40(1):23-5. doi: 10.1038/ng.2007.48. Epub 2007 Dec 2.

DOI:10.1038/ng.2007.48
PMID:18059266
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2447885/
Abstract

Psoriasis is a common inflammatory skin disease with a strong genetic component. We analyzed the genomic copy number polymorphism of the beta-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 beta-defensin genes and risk of psoriasis.

摘要

银屑病是一种常见的具有强大遗传成分的炎症性皮肤病。我们分析了179名荷兰银屑病患者和272名对照,以及319名德国银屑病患者和305名对照中人类8号染色体上β-防御素区域的基因组拷贝数多态性。两个队列的比较均显示,β-防御素基因较高的基因组拷贝数与银屑病风险之间存在显著关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc3c/2447885/f6e4cf594fbb/ukmss-2033-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc3c/2447885/f6e4cf594fbb/ukmss-2033-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc3c/2447885/f6e4cf594fbb/ukmss-2033-f0001.jpg

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Am J Hum Genet. 2007 Jun;80(6):1037-54. doi: 10.1086/518257. Epub 2007 Apr 26.
2
Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats.利用分散重复序列的旁系同源比率对拷贝数变异进行准确、高通量分型。
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AMPed up immunity: 418 whole genomes reveal intraspecific diversity of koala antimicrobial peptides.增强的免疫力:418个全基因组揭示了考拉抗菌肽的种内多样性。
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