Evidence map›Paper›PMID 9683608›Full record

ArticleAmerican journal of human genetics1998

Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase.

A G Clark, K M Weiss, D A Nickerson, S L Taylor, A Buchanan, J Stengård, V Salomaa, E Vartiainen, M Perola, E Boerwinkle and 1 more

Registry-linked trialOpen access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00005209 (Genetic Epidemiology of Coronary Heart Disease), which is not on this map. Cited by 126 papers.

0numbers the graph read from it
0cells of the map it votes in
126citing papers in PubMed
40.7field-weighted citation impact, top 1% 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.

NCT00005209 completednot on this map

Genetic Epidemiology of Coronary Heart Disease

TypeobservationalSponsorNational Heart, Lung, and Blood Institute (NHLBI)Ran1987 to 2007ConditionsCardiovascular Diseases, Heart Diseases, Coronary Disease
3 · Its place in the literature

Who cites it

126 citing papers in PubMed, 439 citations in OpenAlex.

  1. Article
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  5. A New Fast Phasing Method Based On Haplotype Subtraction.The Journal of molecular diagnostics : JMD · 2019
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66 more citing papers are in PubMed but not listed here.

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

11 authors at 6 institutions in 2 countries.

A G ClarkInstitute of Molecular Evolutionary Genetics, Department of Biology, Pennsylvania State University, University Park, PA 16802, USA. c92@psu.edu
K M Weiss
D A Nickerson
S L Taylor
A Buchanan
J Stengård
V Salomaa
E Vartiainen
M Perola
E Boerwinkle
C F Sing
Health Promotion Agency · NZPennsylvania State University · USUniversity of Washington · USPublic Health Institute · USThe University of Texas Health Science Center at Houston · USUniversity of Michigan–Ann Arbor · US

Funding

GENETIC EPIDEMIOLOGY OF CORONARY HEART DISEASER01HL039107 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI SING, CHARLES F · 1987 to 2005
$5.8M
MODELING DNA DIVERSITY IN CARDIOVASCULAR HEALTH/DISEASER01HL058238 · NHLBI · UNIVERSITY OF WASHINGTON · PI NICKERSON, DEBORAH A · 1997 to 2001
$1.4M
MODELING DNA DIVERSITY IN CARDIOVASCULAR HEALTH/DISEASER01HL058239 · NHLBI · PENNSYLVANIA STATE UNIVERSITY-UNIV PARK · PI WEISS, KENNETH M. · 1997 to 2001
$490k
NHLBI NIH HHS HL39107NHLBI NIH HHS HL58238NHLBI NIH HHS HL58239
6 · The paper itself

Abstract

Allelic variation in 9.7 kb of genomic DNA sequence from the human lipoprotein lipase gene (LPL) was scored in 71 healthy individuals (142 chromosomes) from three populations: African Americans (24) from Jackson, MS; Finns (24) from North Karelia, Finland; and non-Hispanic Whites (23) from Rochester, MN. The sequences had a total of 88 variable sites, with a nucleotide diversity (site-specific heterozygosity) of .002+/-.001 across this 9.7-kb region. The frequency spectrum of nucleotide variation exhibited a slight excess of heterozygosity, but, in general, the data fit expectations of the infinite-sites model of mutation and genetic drift. Allele-specific PCR helped resolve linkage phases, and a total of 88 distinct haplotypes were identified. For 1,410 (64%) of the 2,211 site pairs, all four possible gametes were present in these haplotypes, reflecting a rich history of past recombination. Despite the strong evidence for recombination, extensive linkage disequilibrium was observed. The number of haplotypes generally is much greater than the number expected under the infinite-sites model, but there was sufficient multisite linkage disequilibrium to reveal two major clades, which appear to be very old. Variation in this region of LPL may depart from the variation expected under a simple, neutral model, owing to complex historical patterns of population founding, drift, selection, and recombination. These data suggest that the design and interpretation of disease-association studies may not be as straightforward as often is assumed.

Indexed as

Genetics, PopulationGenetic VariationAnimalsBlack or African AmericanBlack PeopleFinlandGenotypeHaplotypesHeterozygoteHumansLinkage DisequilibriumLipoprotein LipaseMinnesotaMississippiModels, GeneticPan troglodytesLipoprotein Lipase

Identifiers

PMID9683608
PMCPMC1377318
OpenAlexW2022005040

What OpenQuestion holds

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Read underepoch 390

Registered trials

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.