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Genome-Wide Analysis of Protein-Coding Variants in Leprosy

Overview of attention for article published in Journal of Investigative Dermatology, August 2017
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7 X users

Citations

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58 Mendeley
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Title
Genome-Wide Analysis of Protein-Coding Variants in Leprosy
Published in
Journal of Investigative Dermatology, August 2017
DOI 10.1016/j.jid.2017.08.004
Pubmed ID
Authors

Hong Liu, Zhenzhen Wang, Yi Li, Gongqi Yu, Xi’an Fu, Chuan Wang, Wenting Liu, Yongxiang Yu, Fangfang Bao, Astrid Irwanto, Jian Liu, Tongsheng Chu, Anand Kumar Andiappan, Sebastian Maurer-Stroh, Vachiranee Limviphuvadh, Honglei Wang, Zihao Mi, Yonghu Sun, Lele Sun, Ling Wang, Chaolong Wang, Jiabao You, Jinghui Li, Jia Nee Foo, Herty Liany, Wee Yang Meah, Guiye Niu, Zhenhua Yue, Qing Zhao, Na Wang, Meiwen Yu, Wenjun Yu, Xiujun Cheng, Chiea Chuen Khor, Kar Seng Sim, Tin Aung, Ningli Wang, Deyun Wang, Li Shi, Yong Ning, Zhongyi Zheng, Rongde Yang, Jinlan Li, Jun Yang, Liangbin Yan, Jianping Shen, Guocheng Zhang, Shumin Chen, Jianjun Liu, Furen Zhang

Abstract

Although genome-wide association studies (GWAS) have greatly advanced our understanding on the contribution of common non-coding variants to leprosy susceptibility, protein-coding variants have not been systematically investigated. We carried out a three-stage genome-wide association study of protein-coding variants in 7,048 leprosy patients and 14,398 healthy controls of Han Chinese. Seven to our knowledge previously unreported coding variants at exome-wide significance were discovered, including two rare variants: rs145562243 in NCKIPSD (P = 1.71 × 10(-9), odds ratio (OR) = 4.35) and rs149308743 in CARD9 (P = 2.09 × 10(-8), OR = 4.75); three low frequency variants: rs76418789 in IL23R (P = 1.03 × 10(-10), OR = 1.36), rs146466242 in FLG (P = 3.39 × 10(-12), OR = 1.45), and rs55882956 in TYK2 (P = 1.04 × 10(-6), OR = 1.30); and two common variants: rs780668 in SLC29A3 (P = 2.17 × 10(-9), OR = 1.14) and rs181206 in IL27 (P = 1.08 × 10(-7), OR = 0.83). Discovered protein-coding variants, particularly low-frequency and rare ones, revealed involvement of skin barrier and endocytosis/phagocytosis/autophagy, besides known innate and adaptive immunity, in the pathogenesis of leprosy, highlighting the merits of protein coding variant studies for complex diseases.

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X Demographics

The data shown below were collected from the profiles of 7 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 58 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 58 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 7 12%
Student > Bachelor 6 10%
Professor 5 9%
Student > Master 5 9%
Student > Doctoral Student 4 7%
Other 13 22%
Unknown 18 31%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 16 28%
Medicine and Dentistry 6 10%
Agricultural and Biological Sciences 5 9%
Nursing and Health Professions 2 3%
Pharmacology, Toxicology and Pharmaceutical Science 2 3%
Other 6 10%
Unknown 21 36%
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 05 December 2017.
All research outputs
#14,393,794
of 25,382,440 outputs
Outputs from Journal of Investigative Dermatology
#6,426
of 8,998 outputs
Outputs of similar age
#154,711
of 324,941 outputs
Outputs of similar age from Journal of Investigative Dermatology
#70
of 141 outputs
Altmetric has tracked 25,382,440 research outputs across all sources so far. This one is in the 42nd percentile – i.e., 42% of other outputs scored the same or lower than it.
So far Altmetric has tracked 8,998 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.3. This one is in the 28th percentile – i.e., 28% 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 324,941 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 141 others from the same source and published within six weeks on either side of this one. This one is in the 48th percentile – i.e., 48% of its contemporaries scored the same or lower than it.