Evidence map›Paper›PMID 15551156›Full record

ArticleJournal of human genetics2005

Strong linkage disequilibrium of a HbE variant with the (AT)9(T)5 repeat in the BP1 binding site upstream of the beta-globin gene in the Thai population.

Jun Ohashi, Izumi Naka, Jintana Patarapotikul, Hathairad Hananantachai, Gary Brittenham, Sornchai Looareesuwan, Andrew G Clark, Katsushi Tokunaga

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact, top 90% 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

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Review
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

8 authors at 4 institutions in 3 countries.

Jun OhashiDepartment of Human Genetics, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan. juno-tky@umin.ac.jp.
Izumi NakaDepartment of Human Genetics, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
Jintana PatarapotikulDepartment of Microimmunology and Clinical Tropical Medicine, Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand.
Hathairad HananantachaiDepartment of Microimmunology and Clinical Tropical Medicine, Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand.
Gary BrittenhamDepartment of Pediatrics and Medicine, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Sornchai LooareesuwanDepartment of Microimmunology and Clinical Tropical Medicine, Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand.
Andrew G ClarkDepartment of Molecular Biology and Genetics, Cornell University, Ithaca, NY, USA.
Katsushi TokunagaDepartment of Human Genetics, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
Mahidol Oxford Tropical Medicine Research Unit · THCornell University · USThe University of Tokyo · JPColumbia University · US

Funding

Pathogenesis of severe malarial anemia in ThailandR01AI051310 · NIAID · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BRITTENHAM, GARY M · 2002 to 2005
$1.5M
NIAID NIH HHS R01 AI051310
6 · The paper itself

Abstract

A binding site for the repressor protein BP1, which contains a tandem (AT)x(T)y repeat, is located approximately 530 bp 5' to the human beta-globin gene (HBB). There is accumulating evidence that BP1 binds to the (AT)9(T)5 allele more strongly than to other alleles, thereby reducing the expression of HBB. In this study, we investigated polymorphisms in the (AT)x(T)y repeat in 57 individuals living in Thailand, including three homozygotes for the hemoglobin E variant (HbE; beta26Glu-->Lys), 22 heterozygotes, and 32 normal homozygotes. We found that (AT)9(T)5 and (AT)7(T)7 alleles were predominant in the studied population and that the HbE variant is in strong linkage disequilibrium with the (AT)9(T)5 allele, which can explain why the betaE chain is inefficiently synthesized compared to the normal betaA chain. Moreover, the mildness of the HbE disease compared to other hemoglobinopathies in Thai may be due, in part, to the presence of the (AT)9(T)5 repeat on the HbE chromosome. In addition, a novel (AC)n polymorphism adjacent to the (AT)x(T)y repeat (i.e., (AC)3(AT)7(T)5) was found through the variation screening in this study.

Indexed as

Base SequenceBinding SitesDNAGene FrequencyGenetic VariationGlobinsHaplotypesHemoglobin EHumansLinkage DisequilibriumMolecular Sequence DataPolymorphism, GeneticRepressor ProteinsTandem Repeat SequencesThailandDNAGlobinsHemoglobin ERepressor Proteins

Identifiers

PMID15551156
PMCPMC3114417
OpenAlexW2040826579

What OpenQuestion holds

Textmetadata
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.