Evidence map›Paper›PMID 12727905›Full record

ArticleGenome research2003

Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene.

Rebecca C J Twells, Charles A Mein, Michael S Phillips, J Fred Hess, Riitta Veijola, Matthew Gilbey, Matthew Bright, Michael Metzker, Benedicte A Lie, Amanda Kingsnorth and 14 more

Abstract read
In one paragraph

Article in Genome research, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

26 citing papers in PubMed, 1 synthesis or guideline pooled it.

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  16. Large-scale association study between two coding LRP5 gene polymorphisms and bone phenotypes and fractures in men.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2008
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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

24 authors.

Rebecca C J TwellsJDRF/WT Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 2XY, UK. rebecca.twells@cimr.cam.ac.uk
Charles A Mein
Michael S Phillips
J Fred Hess
Riitta Veijola
Matthew Gilbey
Matthew Bright
Michael Metzker
Benedicte A Lie
Amanda Kingsnorth
Edward Gregory
Yusuke Nakagawa
Hywel Snook
William Y S Wang
Jennifer Masters
Gillian Johnson
Iain Eaves
Joanna M M Howson
David Clayton
Heather J Cordell
Sarah Nutland
Helen Rance
Philippa Carr
John A Todd

Funding

Wellcome Trust
6 · The paper itself

Abstract

Patterns of linkage disequilibrium (LD) in the human genome are beginning to be characterized, with a paucity of haplotype diversity in "LD blocks," interspersed by apparent "hot spots" of recombination. Previously, we cloned and physically characterized the low-density lipoprotein-receptor-related protein 5 (LRP5) gene. Here, we have extensively analysed both LRP5 and its flanking three genes, spanning 269 kb, for single nucleotide polymorphisms (SNPs), and we present a comprehensive SNP map comprising 95 polymorphisms. Analysis revealed high levels of recombination across LRP5, including a hot-spot region from intron 1 to intron 7 of LRP5, where there are 109 recombinants/Mb (4882 meioses), in contrast to flanking regions of 14.6 recombinants/Mb. This region of high recombination could be delineated into three to four hot spots, one within a 601-bp interval. For LRP5, three haplotype blocks were identified, flanked by the hot spots. Each LD block comprised over 80% common haplotypes, concurring with a previous study of 14 genes that showed that common haplotypes account for at least 80% of all haplotypes. The identification of hot spots in between these LD blocks provides additional evidence that LD blocks are separated by areas of higher recombination.

Indexed as

3' Flanking Region5' Flanking RegionAllelesChromosome MappingChromosomes, Human, Pair 11Diabetes Mellitus, Type 1Gene FrequencyGenetic MarkersGenetics, PopulationGenotypeHaplotypesHumansIntronsLDL-Receptor Related ProteinsLinkage DisequilibriumLow Density Lipoprotein Receptor-Related Protein-5Genetic MarkersLDL-Receptor Related ProteinsLow Density Lipoprotein Receptor-Related Protein-5LRP5 protein, humanReceptors, LDL

Identifiers

PMID12727905
PMCPMC430919

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.