Suppr超能文献

银屑病中RUNX1结合位点与RAPTOR基因多态性分析:尽管有足够的检验效能但无关联证据,存在连锁证据。

Analysis of RUNX1 binding site and RAPTOR polymorphisms in psoriasis: no evidence for association despite adequate power and evidence for linkage.

作者信息

Stuart P, Nair R P, Abecasis G R, Nistor I, Hiremagalore R, Chia N V, Qin Z S, Thompson R A, Jenisch S, Weichenthal M, Janiga J, Lim H W, Christophers E, Voorhees J J, Elder J T

机构信息

Department of Dermatology, University of Michigan Medical School, Ann Arbor, MI, USA.

出版信息

J Med Genet. 2006 Jan;43(1):12-7. doi: 10.1136/jmg.2005.032193. Epub 2005 May 27.

Abstract

BACKGROUND

A previous study identified two peaks of allelic association between psoriasis and single nucleotide polymorphisms (SNPs) mapping to distal chromosome 17q, including a disease associated SNP that leads to loss of a RUNX1 transcription factor binding site, and additional SNPs in the third intron of the RAPTOR gene. Another study found an association with SNPs in the RAPTOR gene, but not with the RUNX1 binding site polymorphism.

METHODS

In an effort to confirm these observations, we genotyped 579 pedigrees containing 1285 affected individuals for three SNPs immediately flanking and including the RUNX1 binding site, and for three SNPs in the RAPTOR gene.

RESULTS

Here we report further evidence for linkage to distal chromosome 17q, with a linkage peak mapping 1.7 cM distal to the RUNX1 binding site (logarithm of the odds 2.26 to 2.73, depending upon statistic used). However, we found no evidence for association to individual SNPs or haplotypes in either of the previously identified peaks of association. Power analysis demonstrated 80% power to detect significant association at genotype relative risks of 1.2 (additive and multiplicative models) to 1.5 (dominant and recessive models) for the RUNX1 binding site, and 1.3 to 1.4 for the RAPTOR locus under all models except dominant.

CONCLUSIONS

Our data provide no support for the previously identified RUNX1 binding site or for the RAPTOR locus as genetic determinants of psoriasis, despite evidence for linkage of psoriasis to distal chromosome 17q.

摘要

背景

先前的一项研究确定了银屑病与位于17号染色体长臂远端的单核苷酸多态性(SNP)之间存在两个等位基因关联峰,其中包括一个与疾病相关的SNP,该SNP导致RUNX1转录因子结合位点缺失,以及RAPTOR基因第三内含子中的其他SNP。另一项研究发现银屑病与RAPTOR基因中的SNP有关联,但与RUNX1结合位点多态性无关。

方法

为了证实这些观察结果,我们对579个家系进行了基因分型,这些家系中有1285名受影响个体,检测了紧邻RUNX1结合位点并包括该位点的三个SNP,以及RAPTOR基因中的三个SNP。

结果

在此我们报告了与17号染色体长臂远端连锁的进一步证据,连锁峰位于RUNX1结合位点远端1.7 cM处(优势对数比为2.26至2.73,具体取决于所使用的统计方法)。然而,我们没有发现与先前确定的任何一个关联峰中的单个SNP或单倍型存在关联的证据。功效分析表明,在所有模型(除显性模型外)中,对于RUNX1结合位点,当基因型相对风险为1.2(加性和乘性模型)至1.5(显性和隐性模型)时,检测到显著关联的功效为80%;对于RAPTOR基因座,功效为1.3至1.4。

结论

尽管有证据表明银屑病与17号染色体长臂远端存在连锁,但我们的数据不支持先前确定的RUNX1结合位点或RAPTOR基因座作为银屑病的遗传决定因素。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验