Evidence map›Paper›PMID 25880085›Full record

ArticleBMC musculoskeletal disorders2015

A genome-wide association study of copy-number variation identifies putative loci associated with osteoarthritis in Koreans.

Sanghoon Moon, Bhumsuk Keam, Mi Yeong Hwang, Young Lee, Suyeon Park, Ji Hee Oh, Yeon-Jung Kim, Heun-Sik Lee, Nam Hee Kim, Young Jin Kim and 4 more

Open access · goldAbstract read
In one paragraph

Article in BMC musculoskeletal disorders, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.5field-weighted citation impact, top 16% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 13 citations in OpenAlex.

  1. Article
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  5. International journal of clinical and experimental pathology · 2017
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors at 4 institutions in 1 country.

Sanghoon MoonDivision of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, 363-951, Chungchengbuk-Do, Republic of Korea. moon.sanghoon@daum.net.
Bhumsuk KeamDivision of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, 363-951, Chungchengbuk-Do, Republic of Korea. bhumsuk@snu.ac.kr.
Mi Yeong HwangDivision of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, 363-951, Chungchengbuk-Do, Republic of Korea. myhwang85@gmail.com.
Young LeeDivision of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, 363-951, Chungchengbuk-Do, Republic of Korea. lyou7688@gmail.com.
Suyeon ParkDivision of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, 363-951, Chungchengbuk-Do, Republic of Korea. sooyeon1002@gmail.com.
Ji Hee OhDivision of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, 363-951, Chungchengbuk-Do, Republic of Korea. ohjh83@gmail.com.
Yeon-Jung KimDivision of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, 363-951, Chungchengbuk-Do, Republic of Korea. cocona35@hanmail.net.
Heun-Sik LeeDivision of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, 363-951, Chungchengbuk-Do, Republic of Korea. hslee00@gmail.com.
Nam Hee KimDivision of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, 363-951, Chungchengbuk-Do, Republic of Korea. shnhkim@hanmail.net.
Young Jin KimDivision of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, 363-951, Chungchengbuk-Do, Republic of Korea. anwltlarkr@gmail.com.
Dong-Hyun KimDepartment of Social and Preventive Medicine, Hallym University College of Medicine, 200-702, Chunchun, Republic of Korea. dhkims@hallym.ac.kr.
Bok-Ghee HanDivision of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, 363-951, Chungchengbuk-Do, Republic of Korea. bokghee@korea.kr.
Bong-Jo KimDivision of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, 363-951, Chungchengbuk-Do, Republic of Korea. kbj6181@cdc.go.kr.
Juyoung LeeDivision of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, 363-951, Chungchengbuk-Do, Republic of Korea. jylee@cdc.go.kr.
Korea National Institute of Health · KRHallym University · KRSeoul National University Hospital · KRSoonchunhyang University · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundOA is a complex disease caused by environmental and genetic risk factors. The purpose of this study is to identify candidate copy number variations (CNVs) associated with OA.

methodsWe performed a genome-wide association study of CNV to identify potential loci that confer susceptibility to or protection from OA. CNV genotyping was conducted using NimbleGen HD2 3 × 720K comparative hybridization array and included samples from 371 OA patients and 467 healthy controls. The putative CNV regions identified were confirmed with a TaqMan assay.

resultsWe identified six genomic regions associated with OA encompassing CNV loci. None of six loci had previously been reported in genome-wide association studies with OA, although a genetic analysis suggested that they have functional effects. The protein product of a candidate risk gene for obesity, TNKS, targets Wnt inhibition, and this gene was significantly associated with hand and knee OA. Copy number deletion on TNKS was associated with a 1.37-fold decreased risk for OA. In addition, CA10, which shows a strong association with osteoporosis, was also significant in our study. Copy number deletion on this gene was associated with a 1.69-fold decreased risk for OA.

conclusionWe identified several CNV loci that may contribute to OA susceptibility in Koreans. Further functional investigations of these genes are warranted to fully characterize their putative association.

Indexed as

Genome-Wide Association StudyCase-Control StudiesDNA Copy Number VariationsFemaleGene DeletionGenetic LociGenetic Predisposition to DiseaseGenotypeHumansMaleMiddle AgedNerve Tissue ProteinsOsteoarthritisOsteoporosisRepublic of KoreaRisk FactorsCA10 protein, humanNerve Tissue ProteinsTankyrasesTNKS protein, human

Identifiers

PMID25880085
PMCPMC4395893
OpenAlexW2020340959

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.