Evidence map›Paper›PMID 11891618›Full record

ArticleAmerican journal of human genetics2002

Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus.

Stephanie M Fullerton, Angelika Bartoszewicz, Gustavo Ybazeta, Yukio Horikawa, Graeme I Bell, Kenneth K Kidd, Nancy J Cox, Richard R Hudson, Anna Di Rienzo

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.

0numbers the graph read from it
0cells of the map it votes in
45citing papers in PubMed
4.6field-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

45 citing papers in PubMed, 120 citations in OpenAlex.

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  7. Human-specific derived alleles of CD33 and other genes protect against postreproductive cognitive decline.Proceedings of the National Academy of Sciences of the United States of America · 2016
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  14. Has human evolution stopped?Rambam Maimonides medical journal · 2010
    Article
  15. Article
  16. Genome-wide scans for footprints of natural selection.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2010
    Review
  17. 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

9 authors at 3 institutions in 1 country.

Stephanie M FullertonDepartment of Human Genetics, the University of Chicago, Chicago, IL 60637, USA.
Angelika Bartoszewicz
Gustavo Ybazeta
Yukio Horikawa
Graeme I Bell
Kenneth K Kidd
Nancy J Cox
Richard R Hudson
Anna Di Rienzo
University of Chicago · USHoward Hughes Medical Institute · USYale University · US

Funding

TRANSGENIC COREP60DK020595 · NIDDK · UNIVERSITY OF CHICAGO · PI BELL, GRAEME I · 1985 to 2012
$25.5M
Pilot and Feasibility ProgramP30DK020595 · NIDDK · UNIVERSITY OF CHICAGO · PI Matthew J Brady · 2013 to 2026
$20.9M
Theoretical Studies of Linkage DisequilibriumP01GM057672 · NIGMS · YALE UNIVERSITY · PI KIDD, JUDITH R · 1998 to 2008
$11.0M
POPULATION AND EVOLUTIONARY GENETICS OF NIDDMIR01DK056670 · NIDDK · UNIVERSITY OF CHICAGO · PI DI RIENZO, ANNA · 2001 to 2010
$3.2M
GENES FOR NONINSULIN-DEPENDENT DIABETES MELLITUSR01DK047486 · NIDDK · UNIVERSITY OF CHICAGO · PI BELL, GRAEME I · 1993 to 2003
$1.3M
Robust Methods for Indentifying Genes for Complex TraitsR01DK055889 · NIDDK · UNIVERSITY OF CHICAGO · PI COX, NANCY J. · 1998 to 2004
$1.3M
NIDDK NIH HHS DK20595NIDDK NIH HHS DK47486NIDDK NIH HHS DK55889NIDDK NIH HHS DK56670NIDDK NIH HHS P30 DK020595NIDDK NIH HHS P60 DK020595NIDDK NIH HHS R01 DK047486NIDDK NIH HHS R01 DK055889NIDDK NIH HHS R01 DK056670NIGMS NIH HHS GM57672NIGMS NIH HHS P01 GM057672
6 · The paper itself

Abstract

Recently, a positional cloning study proposed that haplotypes at the calpain-10 locus (CAPN10) are associated with increased risk of type 2 diabetes, or non-insulin-dependent diabetes mellitus, in Mexican Americans, Finns, and Germans. To inform the interpretation of the original mapping results and to look for evidence for the action of natural selection on CAPN10, we undertook a population-based genotyping survey of the candidate susceptibility variants. First, we genotyped sites 43, 19, and 63 (the haplotype-defining variants previously proposed) and four closely linked SNPs, in 561 individuals from 11 populations from five continents, and we examined the linkage disequilibrium among them. We then examined the ancestral state of these sites by sequencing orthologous portions of CAPN10 in chimpanzee and orangutan (the identity of sites 43 and 19 was further investigated in a limited sample of other great apes and Old World and New World monkeys). Our survey suggests larger-than-expected differences in the distribution of CAPN10 susceptibility variants between African and non-African populations, with common, derived haplotypes in European and Asian samples (including one of two proposed risk haplotypes) being rare or absent in African samples. These results suggest a history of positive natural selection at the locus, resulting in significant geographic differences in polymorphism frequencies. The relationship of these differences to disease risk is discussed.

Indexed as

AfricaAllelesAnimalsCalpainChromosomes, Human, Pair 2Diabetes Mellitus, Type 2Gene FrequencyGenetic Predisposition to DiseaseGenetic VariationHaplorhiniHaplotypesHumansLinkage DisequilibriumPolymorphism, Single NucleotideRacial GroupsSelection, GeneticCalpaincalpain 10

Identifiers

PMID11891618
PMCPMC447588
OpenAlexW2154439459

What OpenQuestion holds

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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.