Evidence map›Paper›PMID 18205952›Full record

ArticleBMC medical genetics2008

Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia.

Maristella Pitzalis, Patrizia Zavattari, Raffaele Murru, Elisabetta Deidda, Magdalena Zoledziewska, Daniela Murru, Loredana Moi, Costantino Motzo, Valeria Orrù, Gianna Costa and 30 more

Open access · goldAbstract read
In one paragraph

Article in BMC medical genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 4 pooled it
0.8field-weighted citation impact, top 25% 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

13 citing papers in PubMed, 4 syntheses or guidelines pooled it, 27 citations in OpenAlex.

  1. Pooled it
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  7. The NOD Mouse Beyond Autoimmune Diabetes.Frontiers in immunology · 2022
    Review
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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

40 authors at 7 institutions in 2 countries.

Maristella PitzalisDipartimento di Scienze Biomediche, University of Sassari, 07100 Sassari, Italy. fcucca@uniss.it.
Patrizia Zavattari
Raffaele Murru
Elisabetta Deidda
Magdalena Zoledziewska
Daniela Murru
Loredana Moi
Costantino Motzo
Valeria Orrù
Gianna Costa
Elisabetta Solla
Elisabetta Fadda
Lucia Schirru
Maria Cristina Melis
Marina Lai
Cristina Mancosu
Stefania Tranquilli
Stefania Cuccu
Marcella Rolesu
Maria Antonietta Secci
Daniela Corongiu
Daniela Contu
Rosanna Lampis
Annalisa Nucaro
Gavino Pala
Adolfo Pacifico
Mario Maioli
Paola Frongia
Margherita Chessa
Rossella Ricciardi
Stanislao Lostia
Anna Maria Marinaro
Anna Franca Milia
Novella Landis
Maria Antonietta Zedda
Michael B Whalen
Federico Santoni
Maria Giovanna Marrosu
Marcella Devoto
Francesco Cucca
University of Cagliari · ITOspedale Microcitemico · ITUniversity of Sassari · ITAzienda Ospedaliera G. Brotzu · ITInstitute of Genetic and Biomedical Research · ITSardegna Ricerche (Italy) · ITUniversity of Pennsylvania · US

Funding

Telethon GJT030477
6 · The paper itself

Abstract

backgroundThe Mediterranean island of Sardinia has a strikingly high incidence of the autoimmune disorders Type 1 Diabetes (T1D) and Multiple Sclerosis (MS). Furthermore, the two diseases tend to be co-inherited in the same individuals and in the same families. These observations suggest that some unknown autoimmunity variant with relevant effect size could be fairly common in this founder population and could be detected using linkage analysis.

methodsTo search for T1D and MS loci as well as any that predispose to both diseases, we performed a whole genome linkage scan, sequentially genotyping 593 microsatellite marker loci in 954 individuals distributed in 175 Sardinian families. In total, 413 patients were studied; 285 with T1D, 116 with MS and 12 with both disorders. Model-free linkage analysis was performed on the genotyped samples using the Kong and Cox logarithm of odds (LOD) score statistic.

resultsIn T1D, aside from the HLA locus, we found four regions showing a lod-score > or =1; 1p31.1, 6q26, 10q21.2 and 22q11.22. In MS we found three regions showing a lod-score > or =1; 1q42.2, 18p11.21 and 20p12.3. In the combined T1D-MS scan for shared autoimmunity loci, four regions showed a LOD >1, including 6q26, 10q21.2, 20p12.3 and 22q11.22. When we typed more markers in these intervals we obtained suggestive evidence of linkage in the T1D scan at 10q21.2 (LOD = 2.1), in the MS scan at 1q42.2 (LOD = 2.5) and at 18p11.22 (LOD = 2.6). When all T1D and MS families were analysed jointly we obtained suggestive evidence in two regions: at 10q21.1 (LOD score = 2.3) and at 20p12.3 (LOD score = 2.5).

conclusionThis suggestive evidence of linkage with T1D, MS and both diseases indicates critical chromosome intervals to be followed up in downstream association studies.

Indexed as

Genetic LinkageGenetic Predisposition to DiseaseAdolescentAdultChildChromosome MappingDiabetes Mellitus, Type 1FemaleGenetic MarkersHaplotypesHumansMaleMediterranean IslandsMicrosatellite RepeatsMiddle AgedMultiple SclerosisGenetic Markers

Identifiers

PMID18205952
PMCPMC2259316
OpenAlexW1988999570

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.