Multiple variants in 5q31.1 are associated with systemic lupus erythematosus susceptibility and subphenotypes in the Han Chinese population

Wen, Leilei; Zhu, Zhengwei; Yang, Chaoqun; Liu, L.; Zuo, Xianbo; Morris, David L.; Dou, Jinfa; Ye, L.; Cheng, Yan; Guo, Huimin; Huang, Hailiang; Zhu, Cheng-Yao; Tang, Lili; Chen, M.Y.; Zhou, Yuan; Ding, Yan; Liang, Bo; Zhou, Fu Sheng; Gao, Jin; Tang, Xian Fa; Zheng, Xiaodong; Wang, W.J.; Yin, Xianyong; Tang, Honglei; Sun, Liangdan; Yang, Sen; Zhang, X.J.; Yu, Shengquan; Cui, Yong

doi:10.1111/bjd.15362

Cited by 7 publications

(5 citation statements)

References 45 publications

(92 reference statements)

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“…Importantly, most of the ATAC-seq peaks present in region 1-2 were located in highly conserved regions between mouse and human and contained many binding motifs for factors involved in hematopoiesis (Figure 1A, and not shown). Interestingly, one of the conserved ATAC-seq peaks within the 20 kb region contained a single nucleotide polymorphism (rs244689), that is linked to systemic lupus erythematosus (SLE) in Asian populations (Figure 1B) (26).…”

Section: Identification Of Candidate Regulatory Regions Upstream Of Tcf7mentioning

confidence: 99%

A Shared Regulatory Element Controls the Initiation of Tcf7 Expression During Early T Cell and Innate Lymphoid Cell Developments

et al. 2020

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The transcription factor TCF-1 (encoded by Tcf7) plays critical roles in several lineages of hematopoietic cells. In this study, we examined the molecular basis for Tcf7 regulation in T cells, innate lymphoid cells, and migratory conventional dendritic cells that we find express Tcf7. We identified a 1 kb regulatory element crucial for the initiation of Tcf7 expression in T cells and innate lymphoid cells, but dispensable for Tcf7 expression in Tcf7-expressing dendritic cells. Within this region, we identified a Notch binding site important for the initiation of Tcf7 expression in T cells but not in innate lymphoid cells. Our work establishes that the same regulatory element is used by distinct transcriptional controllers to initiate Tcf7 expression in T cells and ILCs.

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Section: Identification Of Candidate Regulatory Regions Upstream Of Tcf7mentioning

confidence: 99%

A Shared Regulatory Element Controls the Initiation of Tcf7 Expression During Early T Cell and Innate Lymphoid Cell Developments

et al. 2020

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“…We conducted heterogeneity tests (I 2 and P values of the Q statistics) in the two independent cohorts using methods described previously (Higgins & Thompson, 2002). An I 2 heterogeneity statistic across studies of <30% was considered to be nonheterogenous (Higgins & Thompson, 2002;Wen et al, 2017). A meta-analysis of our previous GWAS and this replication study was performed.…”

Section: Discussionmentioning

confidence: 99%

“…Although the exact etiology of SLE is not fully understood, the familial aggregation of SLE suggests an important contribution of genetics to SLE susceptibility (Kuo et al, 2015). To date, genome-wide association studies (GWAS) and candidate gene studies have discovered more than 80 genetic loci with SLE risk that achieve genome-wide significance (P < 5 × 10 −8 ) (Alarcon-Riquelme et al, 2016;Bentham et al, 2015;Han et al, 2009;Langefeld et al, 2017;Lessard et al, 2016;Morris et al, 2016;Sun et al, 2016;Wen et al, 2017Wen et al, , 2018. So far, most of the genetic risk loci are shared across borders and ethnicities.…”

Section: Introductionmentioning

confidence: 99%

The association of the UHRF1BP1 gene with systemic lupus erythematosus was replicated in a Han Chinese population from mainland China

Wen

Liu

Shen

et al. 2019

Annals of Human Genetics

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Single‐nucleotide polymorphisms (SNPs) in the UHRF gene have been shown to be associated with systemic lupus erythematosus (SLE) in European and Hong Kong Chinese, but statistically significant evidence for association has not been found in a mainland Han Chinese population. Therefore, we selected SNP rs13205210 located in UHRF1BP1 as a candidate association from our previously published genome‐wide association study (GWAS) data of SLE (1,047 cases and 1,205 controls from a mainland Han Chinese population) to explore the association between the UHRF1BP1 gene and SLE. We conducted a large‐scale replication study in an additional independent sample of 3,509 cases and 8,246 controls from a mainland Han Chinese population. Real‐time PCR was used to determine gene expression differences in peripheral blood mononuclear cells (PBMCs) from cases and controls. As a result, we replicated the association between the UHRF1BP1 gene and SLE (rs13205210, missense, Pmeta = 2.26E‐17, odds ratio = 1.41) by a meta‐analysis of our previous GWAS and this replication study involving a total of 4,556 cases and 9,451 controls. The UHRF1BP1 mRNA expression level in PBMCs was significantly decreased in patients with SLE compared with that in healthy controls. SNP rs13205210 exhibited an expression quantitative trait loci effect on the UHRF1BP1 gene in PBMCs from patients. In conclusion, this study not only suggests that the UHRF1BP1 gene was associated with SLE in a mainland Han Chinese population, but also implied that it might be a common genetic factor contributing to SLE susceptibility in multiple populations.

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“…SNP rs2230926 of TNFAIP3 was strongly associated with SLE of Chinese Han and also associated with arthritis, antinuclear antibody, and other subphenotypes of SLE (Cai et al, 2010). Subsequently, we conducted a series of replication studies and genotypeephenotype analysis to find many new susceptibility variants or genes associated with SLE (He et al, 2010;Sheng et al, 2011Sheng et al, , 2015Wen et al, 2017;Zhu et al, 2015). 2.…”

Section: Gwasmentioning

confidence: 99%

Genetic Profiles for Systemic Lupus Erythematosus in Han Chinese Population: From Genome-Wide Association Study to Exome-Wide Association Study

Wen

Liu

Xue

et al. 2018

Journal of Investigative Dermatology Symposium Proceedings

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Multiple variants in 5q31.1 are associated with systemic lupus erythematosus susceptibility and subphenotypes in the Han Chinese population

Cited by 7 publications

References 45 publications

A Shared Regulatory Element Controls the Initiation of Tcf7 Expression During Early T Cell and Innate Lymphoid Cell Developments

A Shared Regulatory Element Controls the Initiation of Tcf7 Expression During Early T Cell and Innate Lymphoid Cell Developments

The association of the UHRF1BP1 gene with systemic lupus erythematosus was replicated in a Han Chinese population from mainland China

Genetic Profiles for Systemic Lupus Erythematosus in Han Chinese Population: From Genome-Wide Association Study to Exome-Wide Association Study

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