Evidence map›Paper›PMID 18559660›Full record

ArticleDiabetes2008

High-density single nucleotide polymorphism genome-wide linkage scan for susceptibility genes for diabetic nephropathy in type 1 diabetes: discordant sibpair approach.

John J Rogus, G David Poznik, Marcus G Pezzolesi, Adam M Smiles, Jonathon Dunn, William Walker, Krzysztof Wanic, Dariusz Moczulski, Luis Canani, Shinichi Araki and 3 more

Open access · bronzeAbstract read
In one paragraph

Article in Diabetes, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 3 pooled it
4.5field-weighted citation impact, top 5% 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

25 citing papers in PubMed, 3 syntheses or guidelines pooled it, 54 citations in OpenAlex.

  1. Pooled it
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  13. Refined mapping of the renal failure RF-3 quantitative trait locus.Journal of the American Society of Nephrology : JASN · 2011
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  14. TGF-alpha mediates genetic susceptibility to chronic kidney disease.Journal of the American Society of Nephrology : JASN · 2011
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  15. Article
  16. Uncovering genes and regulatory pathways related to urinary albumin excretion.Journal of the American Society of Nephrology : JASN · 2011
    Article
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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

13 authors at 2 institutions in 4 countries.

John J RogusResearch Division, Joslin Diabetes Center, Boston, Massachusetts, USA.
G David Poznik
Marcus G Pezzolesi
Adam M Smiles
Jonathon Dunn
William Walker
Krzysztof Wanic
Dariusz Moczulski
Luis Canani
Shinichi Araki
Yuichiro Makita
James H Warram
Andrzej S Krolewski
Joslin Diabetes Center · USHarvard University · US

Funding

Mapping Genes for End-Stage Renal Disease in Type 1 DiabetesR01DK077532 · NIDDK · JOSLIN DIABETES CENTER · PI KROLEWSKI, ANDRZEJ S · 2006 to 2008
$1.7M
MAPPING GENES FOR NEPHROPATHY IN IDDMR01DK053534 · NIDDK · JOSLIN DIABETES CENTER · PI KROLEWSKI, ANDRZEJ S · 1998 to 2001
$1.2M
NIDDK NIH HHS DK 053534NIDDK NIH HHS DK 077532NIDDK NIH HHS R01 DK077532
6 · The paper itself

Abstract

objectiveEpidemiological and family studies have demonstrated that susceptibility genes play an important role in the etiology of diabetic nephropathy, defined as persistent proteinuria or end-stage renal disease (ESRD) in type 1 diabetes. RESEARCH DESIGN AND

methodsTo efficiently search for genomic regions harboring diabetic nephropathy genes, we conducted a scan using 5,382 informative single nucleotide polymorphisms on 100 sibpairs concordant for type 1 diabetes but discordant for diabetic nephropathy. In addition to being powerful for detecting linkage to diabetic nephropathy, this design allows linkage analysis on type 1 diabetes via traditional affected sibpair (ASP) analysis. In weighing the evidence for linkage, we considered maximum logarithm of odds score (maximum likelihood score [MLS]) values and corresponding allelic sharing patterns, calculated and viewed graphically using the software package SPLAT.

resultsOur primary finding for diabetic nephropathy, broadly defined, is on chromosome 19q (MLS = 3.1), and a secondary peak exists on chromosome 2q (MLS = 2.1). Stratification of discordant sibpairs based on whether disease had progressed to ESRD suggested four tertiary peaks on chromosome 1q (ESRD only), chromosome 20p (proteinuria only), and chromosome 3q (two loci 58 cm apart, one for ESRD only and another for proteinuria only). Additionally, analysis of 130 ASPs for type 1 diabetes confirmed the linkage to the HLA region on chromosome 6p (MLS = 9.2) and IDDM15 on chromosome 6q (MLS = 3.1).

conclusionsThis study identified several novel loci as candidates for diabetic nephropathy, none of which appear to be the sole genetic determinant of diabetic nephropathy in type 1 diabetes. In addition, this study confirms two previously reported type 1 diabetes loci.

Indexed as

Genetic LinkageGenomicsPolymorphism, Single NucleotideAdultChromosomes, Human, Pair 20Chromosomes, Human, Pair 3Chromosomes, Human, Pair 6Diabetes Mellitus, Type 1Diabetic NephropathiesFamily HealthFemaleGenetic Predisposition to DiseaseHumansKidney Failure, ChronicMaleMiddle Aged

Identifiers

PMID18559660
PMCPMC2518505
OpenAlexW2013443536

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

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.