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Meta-analysis of two Chinese populations identifies an autoimmune disease risk allele in 22q11.21 as associated with systemic lupus erythematosus

Overview of attention for article published in Arthritis Research & Therapy, March 2015
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Title
Meta-analysis of two Chinese populations identifies an autoimmune disease risk allele in 22q11.21 as associated with systemic lupus erythematosus
Published in
Arthritis Research & Therapy, March 2015
DOI 10.1186/s13075-015-0577-6
Pubmed ID
Authors

Yan Zhang, Yong-Fei Wang, Jing Yang, Jing Zhang, Liangdan Sun, Nattiya Hirankarn, Hai-Feng Pan, Chak Sing Lau, Tak Mao Chan, Tsz Leung Lee, Alexander Moon Ho Leung, Chi Chiu Mok, Lu Zhang, Jiangshan Jane Shen, Sik Nin Wong, Ka Wing Lee, Marco Hok Kung Ho, Pamela Pui Wah Lee, Brian Hon-Yin Chung, Chun Yin Chong, Raymond Woon Sing Wong, Mo Yin Mok, Wilfred Hing Sang Wong, Kwok Lung Tong, Niko Kei Chiu Tse, Xiang-Pei Li, Yingyos Avihingsanon, Pornpimol Rianthavorn, Thavatchai Deekajorndej, Kanya Suphapeetiporn, Vorasuk Shotelersuk, Shirley King Yee Ying, Samuel Ka Shun Fung, Wai Ming Lai, Chun-Ming Wong, Irene Oi Lin Ng, Maria-Merce Garcia-Barcelo, Stacey S Cherny, Paul Kwong-Hang Tam, Pak Chung Sham, Sen Yang, Dong Qing Ye, Yong Cui, Xue-Jun Zhang, Wanling Yang, Yu Lung Lau

Abstract

Systemic lupus erythematosus (SLE) is a heterogeneous disease with a diverse spectrum of clinical symptoms from skin rash to end-organ damage. 22q11.21 has been identified as a susceptibility region for several autoimmune diseases, including SLE. However, the detailed information for SLE association and the underlying functional mechanism(s) are still lacking. Through meta-analysis of two genome-wide association studies (GWAS) on Chinese Han populations with a total of 1659 cases and 3398 controls matched geographically, we closely examined this region, especially on the reported single nucleotide polymorphisms (SNPs) associated with different autoimmune diseases and their relationships. We further replicated the most significant association SNP with SLE using 2612 cases and 2323 controls of Asian ancestry. All reported SNPs in this region with different autoimmune diseases were examined in the two GWAS data and meta- analysis result, and supportive evidence of association with SLE was found (meta-analysis P_meta ≤ 7.27E-05), which might require further investigation. SNP rs2298428 was identified as the most significant SNP associated with SLE in this region (P_meta = 2.70E-09). It showed independent effect through both stepwise and conditional logistic regression, and there is no evidence of other independent association signals for SLE in this region. The association of rs2298428 was further replicated in three cohorts from Hong Kong, Anhui and Thailand with a total of 2612 cases and 2323 controls (joint analysis of GWAS and replication result P_all = 1.31E-11, OR = 1.23). SNP rs2298428 was shown to be an eQTL for UBE2L3 gene in different cell types, with the risk allele (T) being correlated with higher expression of UBE2L3. This is consistent with earlier reports on higher expression of UBE2L3 in SLE cases. Association to distinct autoimmune diseases highlights the significance of this region in autoreactive responses and potentially shared functional mechanisms by these diseases.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 40 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 40 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 7 18%
Student > Doctoral Student 4 10%
Student > Master 3 8%
Student > Ph. D. Student 3 8%
Lecturer 2 5%
Other 5 13%
Unknown 16 40%
Readers by discipline Count As %
Medicine and Dentistry 10 25%
Biochemistry, Genetics and Molecular Biology 4 10%
Immunology and Microbiology 3 8%
Nursing and Health Professions 2 5%
Agricultural and Biological Sciences 1 3%
Other 1 3%
Unknown 19 48%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 09 April 2016.
All research outputs
#14,600,553
of 25,374,647 outputs
Outputs from Arthritis Research & Therapy
#2,123
of 3,381 outputs
Outputs of similar age
#131,493
of 277,719 outputs
Outputs of similar age from Arthritis Research & Therapy
#37
of 73 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. This one is in the 41st percentile – i.e., 41% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,381 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 9.2. This one is in the 36th percentile – i.e., 36% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 277,719 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 51% of its contemporaries.
We're also able to compare this research output to 73 others from the same source and published within six weeks on either side of this one. This one is in the 47th percentile – i.e., 47% of its contemporaries scored the same or lower than it.