Suppr超能文献

在中国汉族人群中,对2p15区域的17个候选基因进行致病变异筛查,以研究其与强直性脊柱炎的相关性。

Pathogenic variants screening in seventeen candidate genes on 2p15 for association with ankylosing spondylitis in a Han Chinese population.

作者信息

Wang Mengmeng, Xin Lihong, Cai Guoqi, Zhang Xu, Yang Xiao, Li Xiaona, Xia Qing, Wang Li, Xu Shengqian, Xu Jianhua, Shuai Zongwen, Ding Changhai, Pan Faming

机构信息

Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China.

Department of Rheumatism and Immunity, the First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.

出版信息

PLoS One. 2017 May 11;12(5):e0177080. doi: 10.1371/journal.pone.0177080. eCollection 2017.

Abstract

OBJECTIVES

Previous studies have found the association between rs10865331 in 2p15 area and ankylosing spondylitis (AS). This study aimed to identify additional functional genetic variants in 2p15 region associated with AS susceptibility.

METHODS

We used next generation sequencing (NGS) in 100 AS cases and 100 healthy controls to screen AS susceptible genetic variants, and validated these variants in 620 cases and 620 controls by using imLDRTM technique for single nucleotide polymorphism (SNP) genotyping.

RESULTS

Totally, we identified 12 SNPs that might confer susceptibility to AS. Of those SNPs, three (rs14170, rs2123111 and rs1729674) were nominally associated (P<0.05) with AS, but were no longer statistically significant after Bonferroni correction. After stratified by gender, another two SNPs (rs11428092 and rs10208769 in USP34) were associated with AS in males but not females, though this was not statistically significant after Bonferroni correction. In addition, rs1729674, rs14170, rs2123111 and rs10208769 were in strong linkage disequilibrium (LD) and were further enrolled in haplotype analysis. A novel haplotype TAGA was found to be associated with a decreased risk of AS (odds ratio (OR) (95% confidence interval (CI)) = 0.832 (0.705-0.982)). Beyond that, we also demonstrated a strong relationship between rs10865331 and AS susceptibility (OR (95% CI) = 1.303(1.111-1.526)).

CONCLUSIONS

rs14170 and rs2123111 inUSP34 and rs1729674 in C2orf74 may be associated with AS susceptibility in Han Chinese population. USP34 and C2orf74 in 2p15 region may be AS novel susceptibility genes.

摘要

目的

既往研究发现2p15区域的rs10865331与强直性脊柱炎(AS)之间存在关联。本研究旨在鉴定2p15区域中与AS易感性相关的其他功能性遗传变异。

方法

我们对100例AS患者和100例健康对照者进行了下一代测序(NGS)以筛选AS易感遗传变异,并通过使用imLDRTM技术进行单核苷酸多态性(SNP)基因分型,在620例患者和620例对照中验证了这些变异。

结果

我们总共鉴定出12个可能赋予AS易感性的SNP。在这些SNP中,三个(rs14170、rs2123111和rs1729674)与AS呈名义上的关联(P<0.05),但在Bonferroni校正后不再具有统计学意义。按性别分层后,另外两个SNP(USP34中的rs11428092和rs10208769)与男性AS相关,但与女性无关,尽管在Bonferroni校正后这一结果无统计学意义。此外,rs1729674、rs14170、rs2123111和rs10208769处于强连锁不平衡(LD)状态,并进一步纳入单倍型分析。发现一种新的单倍型TAGA与AS风险降低相关(优势比(OR)(95%置信区间(CI))=0.832(0.705-0.982))。除此之外,我们还证明了rs10865331与AS易感性之间存在强关联(OR(95%CI)=1.303(1.111-1.526))。

结论

USP34中的rs14170和rs2123111以及C2orf74中的rs1729674可能与中国汉族人群的AS易感性相关。2p15区域的USP34和C2orf74可能是AS新的易感基因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea96/5426703/77e10f501b38/pone.0177080.g001.jpg

相似文献

3
Association of STAT3 and TNFRSF1A with ankylosing spondylitis in Han Chinese.
Ann Rheum Dis. 2011 Feb;70(2):289-92. doi: 10.1136/ard.2010.133322. Epub 2010 Nov 10.
7
Association of common variants in KIF21B and ankylosing spondylitis in a Chinese Han population: a replication study.
Immunogenetics. 2013 Dec;65(12):835-9. doi: 10.1007/s00251-013-0733-6. Epub 2013 Sep 25.
8
Analysis of 47 Non-MHC Ankylosing Spondylitis Susceptibility Loci Regarding Associated Variants across Whites and Han Chinese.
J Rheumatol. 2020 May 1;47(5):674-681. doi: 10.3899/jrheum.190184. Epub 2019 Sep 15.
9
ETS1 variants confer susceptibility to ankylosing spondylitis in Han Chinese.
Arthritis Res Ther. 2014 Apr 4;16(2):R87. doi: 10.1186/ar4530.
10

引用本文的文献

3
Ankylosing spondylitis risk factors: a systematic literature review.
Clin Rheumatol. 2021 Aug;40(8):3079-3093. doi: 10.1007/s10067-021-05679-7. Epub 2021 Mar 22.

本文引用的文献

1
Association study of ankylosing spondylitis and polymorphisms in ERAP1 gene in Zhejiang Han Chinese population.
Rheumatol Int. 2016 Feb;36(2):243-8. doi: 10.1007/s00296-015-3350-x. Epub 2015 Sep 8.
2
Association Study of IL-12B Polymorphisms Susceptibility with Ankylosing Spondylitis in Mainland Han Population.
PLoS One. 2015 Jun 23;10(6):e0130982. doi: 10.1371/journal.pone.0130982. eCollection 2015.
3
An association study between USP34 and polycystic ovary syndrome.
J Ovarian Res. 2015 May 15;8:30. doi: 10.1186/s13048-015-0158-y.
4
Update on ankylosing spondylitis: current concepts in pathogenesis.
Curr Allergy Asthma Rep. 2015 Jan;15(1):489. doi: 10.1007/s11882-014-0489-6.
5
rs10865331 associated with susceptibility and disease severity of ankylosing spondylitis in a Taiwanese population.
PLoS One. 2014 Sep 3;9(9):e104525. doi: 10.1371/journal.pone.0104525. eCollection 2014.
8
The ubiquitin specific protease USP34 promotes ubiquitin signaling at DNA double-strand breaks.
Nucleic Acids Res. 2013 Oct;41(18):8572-80. doi: 10.1093/nar/gkt622. Epub 2013 Jul 17.
10
Negative regulation of NF-κB signaling in T lymphocytes by the ubiquitin-specific protease USP34.
Cell Commun Signal. 2013 Apr 16;11(1):25. doi: 10.1186/1478-811X-11-25.

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