Evidence map›Paper›PMID 35064169›Full record

Observational studyScientific reports2022

Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations.

Karoline Kuchenbaecker, Arthur Gilly, Daniel Suveges, Lorraine Southam, Olga Giannakopoulou, Britt Kilian, Emmanouil Tsafantakis, Maria Karaleftheri, Aliki-Eleni Farmaki, Deepti Gurdasani and 7 more

Abstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–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

3 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
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

17 authors.

Karoline KuchenbaeckerDivision of Psychiatry, University College of London, London, W1T 7NF, UK. k.kuchenbaecker@ucl.ac.uk.
Arthur GillyDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.
Daniel SuvegesDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.
Lorraine SouthamDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.
Olga GiannakopoulouDivision of Psychiatry, University College of London, London, W1T 7NF, UK.
Britt KilianDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.
Emmanouil TsafantakisAnogia Medical Centre, 740 51, Anogia, Greece.
Maria KaraleftheriEchinos Medical Centre, 67300, Echinos, Xanthi, Greece.
Aliki-Eleni FarmakiDepartment of Nutrition and Dietetics, School of Health Science and Education, Harokopio University of Athens, Athens, Greece.
Deepti GurdasaniDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.
Kousik KunduDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.
Manjinder S SandhuDepartment of Medicine, University of Cambridge, Cambridge, CB2 0QQ, UK.
John DaneshDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.
Adam ButterworthThe National Institute for Health Research Blood and Transplant Unit (NIHR BTRU) in Donor Health and Genomics at the University of Cambridge, Strangeways Research Laboratory, Wort's Causeway, University of Cambridge, Cambridge, CB1 8RN, UK.
Inês BarrosoExeter Centre of Excellence for Diabetes Research (EXCEED), Genetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, UK.
George DedoussisDepartment of Nutrition and Dietetics, School of Health Science and Education, Harokopio University of Athens, Athens, Greece.
Eleftheria ZegginiDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.

Funding

European Research Council ERC-2011-StG 280559-SEPIMedical Research Council MR/S003711/1Medical Research Council MR/S003711/2Wellcome TrustWellcome Trust WT098051
6 · The paper itself

Abstract

Haematological traits are linked to cardiovascular, metabolic, infectious and immune disorders, as well as cancer. Here, we examine the role of genetic variation in shaping haematological traits in two isolated Mediterranean populations. Using whole-genome sequencing data at 22× depth for 1457 individuals from Crete (MANOLIS) and 1617 from the Pomak villages in Greece, we carry out a genome-wide association scan for haematological traits using linear mixed models. We discover novel associations (p < 5 × 10

Indexed as

Genetics, Populationbeta-GlobinsCohort StudiesDNA Mutational AnalysisErythrocyte CountErythrocyte IndicesGene FrequencyGenetic VariationGenome-Wide Association StudyGreeceHumansLeukocyte CountMutationPlatelet Function TestsWhole Genome Sequencingbeta-Globins

Identifiers

PMID35064169
PMCPMC8782863

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.