Evidence map›Paper›PMID 10486325›Full record

ArticleAmerican journal of human genetics1999

Genome scan for predisposing loci for distal interphalangeal joint osteoarthritis: evidence for a locus on 2q.

J Leppävuori, U Kujala, J Kinnunen, J Kaprio, M Nissilä, M Heliövaara, N Klinger, J Partanen, J D Terwilliger, L Peltonen

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In one paragraph

Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed, 2 pooled it
7.4field-weighted citation impact, top 2% 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

33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 120 citations in OpenAlex.

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  14. [Pathogenesis of osteoarthritis--a snapshot].Zeitschrift fur Rheumatologie · 2007
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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

10 authors at 4 institutions in 3 countries.

J LeppävuoriDepartment of Human Molecular Genetics, National Public Health Institute, University of Helsinki, Finland.
U Kujala
J Kinnunen
J Kaprio
M Nissilä
M Heliövaara
N Klinger
J Partanen
J D Terwilliger
L Peltonen
Finnish Red Cross · FIPublic Health Institute · USColumbia University · USInstitute for Biomedicine · IT

Funding

Wellcome Trust
6 · The paper itself

Abstract

The genetic contribution to common forms of osteoarthritis (OA) is well established but poorly understood. We performed a genome scan, using 302 markers for loci predisposing to distal interphalangeal joint (DIP) OA. To minimize genetic heterogeneity in our study sample, we identified siblings with a severe, radiologically defined phenotype from the nationwide registers of Finland. In the initial genome scan, linkage analysis in 27 sibships gave a pairwise LOD score (Z) >1.00 with nine of the screening markers. In the second stage, additional markers and family members were genotyped in these chromosomal regions. On 2q12-q13, IL1R1 resulted in Z=2.34 at recombination fraction (theta) 0, allowing a dominant mode of inheritance. Association analysis of markers D2S2264, IL1R1, D2S373, and D2S1789 jointly provided some evidence for a shared haplotype among the affected individuals (P value of.012). Also, multipoint nonparametric linkage analysis yielded a P value of.0001 near the locus IL1R1 and P=.0007 approximately 20 cM telomeric near marker D2S1399, which, in two-point analysis, gave Z=1.48 (straight theta=. 02). This chromosomal region on 2q harbors the interleukin 1 gene cluster and, thus, represents a good candidate region for inflammatory and autoimmune disorders. Three additional chromosomal regions-4q26-q27, 7p15-p21, and Xcen-also provided some evidence for linkage, and further analyses would be justified to clarify their potential involvement in the genetic predisposition to DIP OA.

Indexed as

AdultChromosome MappingChromosomes, Human, Pair 2Chromosomes, Human, Pair 4Chromosomes, Human, Pair 7FemaleFinger JointFinlandGenes, DominantGenes, RecessiveGenetic LinkageGenetic MarkersGenome, HumanHaplotypesHumansMaleGenetic Markers

Identifiers

PMID10486325
PMCPMC1288239
OpenAlexW2048034418

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.