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Investigation of C1-complex regions reveals new C1Q variants associated with protection from systemic lupus erythematosus, and affect its transcript abundance

Abstract Although rare variant C1Q deficiency was identified as causative risk for systemic lupus erythematosus (SLE), there are limited and inconsistent reports regarding the common polymorphisms of C1Q genes in SLE susceptibility. Furthermore, there are no reports concerning polymorphisms of C1S,... Full description

Journal Title: Scientific Reports 01 May 2018, Vol.8(1), pp.1-8
Main Author: Jianping Guo
Other Authors: Yanyan Gao , Yuxuan Wang , Yundong Zou , Yan Du , Cainan Luo , Yamei Shi , Yue Yang , Xinyu Wu , Yin Su , Lijun Wu , Shi Chen , Zhanguo Li
Format: Electronic Article Electronic Article
Language: English
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ID: E-ISSN: 2045-2322 ; DOI: 10.1038/s41598-018-26380-x
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recordid: doaj_soai_doaj_org_article_3bfdb71c7ade4f59be63e74981ef58fa
title: Investigation of C1-complex regions reveals new C1Q variants associated with protection from systemic lupus erythematosus, and affect its transcript abundance
format: Article
creator:
  • Jianping Guo
  • Yanyan Gao
  • Yuxuan Wang
  • Yundong Zou
  • Yan Du
  • Cainan Luo
  • Yamei Shi
  • Yue Yang
  • Xinyu Wu
  • Yin Su
  • Lijun Wu
  • Shi Chen
  • Zhanguo Li
subjects:
  • Biology
ispartof: Scientific Reports, 01 May 2018, Vol.8(1), pp.1-8
description: Abstract Although rare variant C1Q deficiency was identified as causative risk for systemic lupus erythematosus (SLE), there are limited and inconsistent reports regarding the common polymorphisms of C1Q genes in SLE susceptibility. Furthermore, there are no reports concerning polymorphisms of C1S, C1R, and C1RL and whether they confer susceptibility to SLE. We therefore evaluated 22 SNPs across six C1-complex genes in two independent case-control cohorts, and identified four novel SNPs that confer protection from SLE. The four SNPs are all located in C1Q. Particularly, the variant rs653286 displayed an independent reduced risk on SLE susceptibility (OR 0.75, P = 2.16 × 10−3) and anti-dsDNA antibodies (OR 0.68, P = 0.024). By bioinformatics analysis, SNPs rs653286 and rs291985 displayed striking cis-eQTL effects on C1Q genes expression. Individuals homozygous for the ‘protective’ allele at four SNPs had significantly higher levels of serum C1q (rs680123–rs682658: P = 0.0022; rs653286–rs291985: P = 0.0076). To our knowledge, this is the first study to demonstrate that only C1Q polymorphisms are associated with SLE. The C1Q SNP rs653286 confers an independent protective effect on SLE susceptibility and affects transcript abundance.
language: eng
source:
identifier: E-ISSN: 2045-2322 ; DOI: 10.1038/s41598-018-26380-x
fulltext: fulltext_linktorsrc
issn:
  • 2045-2322
  • 20452322
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titleInvestigation of C1-complex regions reveals new C1Q variants associated with protection from systemic lupus erythematosus, and affect its transcript abundance
creatorJianping Guo ; Yanyan Gao ; Yuxuan Wang ; Yundong Zou ; Yan Du ; Cainan Luo ; Yamei Shi ; Yue Yang ; Xinyu Wu ; Yin Su ; Lijun Wu ; Shi Chen ; Zhanguo Li
ispartofScientific Reports, 01 May 2018, Vol.8(1), pp.1-8
identifierE-ISSN: 2045-2322 ; DOI: 10.1038/s41598-018-26380-x
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descriptionAbstract Although rare variant C1Q deficiency was identified as causative risk for systemic lupus erythematosus (SLE), there are limited and inconsistent reports regarding the common polymorphisms of C1Q genes in SLE susceptibility. Furthermore, there are no reports concerning polymorphisms of C1S, C1R, and C1RL and whether they confer susceptibility to SLE. We therefore evaluated 22 SNPs across six C1-complex genes in two independent case-control cohorts, and identified four novel SNPs that confer protection from SLE. The four SNPs are all located in C1Q. Particularly, the variant rs653286 displayed an independent reduced risk on SLE susceptibility (OR 0.75, P = 2.16 × 10−3) and anti-dsDNA antibodies (OR 0.68, P = 0.024). By bioinformatics analysis, SNPs rs653286 and rs291985 displayed striking cis-eQTL effects on C1Q genes expression. Individuals homozygous for the ‘protective’ allele at four SNPs had significantly higher levels of serum C1q (rs680123–rs682658: P = 0.0022; rs653286–rs291985: P = 0.0076). To our knowledge, this is the first study to demonstrate that only C1Q polymorphisms are associated with SLE. The C1Q SNP rs653286 confers an independent protective effect on SLE susceptibility and affects transcript abundance.
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titleInvestigation of C1-complex regions reveals new C1Q variants associated with protection from systemic lupus erythematosus, and affect its transcript abundance
description

Abstract Although rare variant C1Q deficiency was identified as causative risk for systemic lupus erythematosus (SLE), there are limited and inconsistent reports regarding the common polymorphisms of C1Q genes in SLE susceptibility. Furthermore, there are no reports concerning polymorphisms of C1S, C1R, and C1RL and whether they confer susceptibility to SLE. We therefore evaluated 22 SNPs across six C1-complex genes in two independent case-control cohorts, and identified four novel SNPs that confer protection from SLE. The four SNPs are all located in C1Q. Particularly, the variant rs653286 displayed an independent reduced risk on SLE susceptibility (OR 0.75, P = 2.16 × 10−3) and anti-dsDNA antibodies (OR 0.68, P = 0.024). By bioinformatics analysis, SNPs rs653286 and rs291985 displayed striking cis-eQTL effects on C1Q genes expression. Individuals homozygous for the ‘protective’ allele at four SNPs had significantly higher levels of serum C1q (rs680123–rs682658: P = 0.0022; rs653286–rs291985: P = 0.0076). To our knowledge, this is the first study to demonstrate that only C1Q polymorphisms are associated with SLE. The C1Q SNP rs653286 confers an independent protective effect on SLE susceptibility and affects transcript abundance.

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Abstract Although rare variant C1Q deficiency was identified as causative risk for systemic lupus erythematosus (SLE), there are limited and inconsistent reports regarding the common polymorphisms of C1Q genes in SLE susceptibility. Furthermore, there are no reports concerning polymorphisms of C1S, C1R, and C1RL and whether they confer susceptibility to SLE. We therefore evaluated 22 SNPs across six C1-complex genes in two independent case-control cohorts, and identified four novel SNPs that confer protection from SLE. The four SNPs are all located in C1Q. Particularly, the variant rs653286 displayed an independent reduced risk on SLE susceptibility (OR 0.75, P = 2.16 × 10−3) and anti-dsDNA antibodies (OR 0.68, P = 0.024). By bioinformatics analysis, SNPs rs653286 and rs291985 displayed striking cis-eQTL effects on C1Q genes expression. Individuals homozygous for the ‘protective’ allele at four SNPs had significantly higher levels of serum C1q (rs680123–rs682658: P = 0.0022; rs653286–rs291985: P = 0.0076). To our knowledge, this is the first study to demonstrate that only C1Q polymorphisms are associated with SLE. The C1Q SNP rs653286 confers an independent protective effect on SLE susceptibility and affects transcript abundance.

pubNature Publishing Group
doi10.1038/s41598-018-26380-x
oafree_for_read
date2018-05-01