Evidence map›Paper›PMID 35321643›Full record

ArticleBMC genomics2022

Sex-specific genetic modifiers identified susceptibility of cold stored red blood cells to osmotic hemolysis.

Fang Fang, Kelsey Hazegh, Alan E Mast, Darrell J Triulzi, Bryan R Spencer, Mark T Gladwin, Michael P Busch, Tamir Kanias, Grier P Page

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

Article in BMC genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.9field-weighted citation impact, top 26% 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

6 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
  3. Genetic determinants of plasma testosterone in male blood donors are associated with altered red blood cell characteristics and survival in cold storage and after transfusion.Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis · 2024
    Article
  4. Article
  5. Review
  6. 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

9 authors at 6 institutions in 1 country.

Fang FangGenOmics, Bioinformatics, and Translational Research Center, RTI International, Research Triangle Park, Durham, NC, USA. ffang@rti.org.
Kelsey HazeghVitalant Research Institute, Denver, CO, USA.
Alan E MastVersiti Blood Research Institute, Blood Center of Wisconsin, Milwaukee, WI, USA.
Darrell J TriulziDepartment of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.
Bryan R SpencerAmerican Red Cross, Dedham, MA, USA.
Mark T GladwinPittsburgh Heart, Lung, and Blood Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, PA, USA.
Michael P BuschVitalant Research Institute, San Francisco, CA, USA.
Tamir KaniasVitalant Research Institute, Denver, CO, USA.
Grier P PageGenOmics, Bioinformatics, and Translational Research Center, RTI International, Research Triangle Park, Durham, NC, USA.
RTI International · USUniversity of Pittsburgh · USVitalant · USAmerican Red Cross · USPacific Research Institute · USVersiti Blood Center of Wisconsin · US

Funding

Effect of blood donor sex and testosterone on predisposition to hemolysis in stored red blood cellsR01HL134653 · NHLBI · VITALANT · PI KANIAS, TAMIR · 2018 to 2022
$1.9M
NHLBI NIH HHS HHSN268201100001INHLBI NIH HHS HHSN2682011-00001I, 00002I, 00003I, 00004I, 00005I, 00006I, 00007I, 00008I, and 00009INHLBI NIH HHS R01 HL134653RTI International 0291014.202.603WHI NIH HHS HHSN268201100001C
6 · The paper itself

Abstract

backgroundGenetic variants have been found to influence red blood cell (RBC) susceptibility to hemolytic stress and affect transfusion outcomes and the severity of blood diseases. Males have a higher susceptibility to hemolysis than females, but little is known about the genetic mechanism contributing to the difference.

resultsTo investigate the sex differences in RBC susceptibility to hemolysis, we conducted a sex-stratified genome-wide association study and a genome-wide gene-by-sex interaction scan in a multi-ethnic dataset with 12,231 blood donors who have in vitro osmotic hemolysis measurements during routine blood storage. The estimated SNP-based heritability for osmotic hemolysis was found to be significantly higher in males than in females (0.46 vs. 0.41). We identified SNPs associated with sex-specific susceptibility to osmotic hemolysis in five loci (SPTA1, KCNA6, SLC4A1, SUMO1P1, and PAX8) that impact RBC function and hemolysis.

conclusionOur study established a best practice to identify sex-specific genetic modifiers for sexually dimorphic traits in datasets with mixed ancestries, providing evidence of different genetic regulations of RBC susceptibility to hemolysis between sexes. These and other variants may help explain observed sex differences in the severity of hemolytic diseases, such as sickle cell and malaria, as well as the viability of red cell storage and recovery.

Indexed as

Blood PreservationErythrocytesHemolysisOsmotic PressureFemaleGenome-Wide Association StudyHumansKv1.6 Potassium ChannelMaleOsmosisSex FactorsKCNA6 protein, humanKv1.6 Potassium ChannelBlood osmotic hemolysisGenome-wide association study (GWAS)NHLBI recipient epidemiology donor evaluation study (REDS)-III—red blood cell omics (RBC-Omics) studyRed blood cellsRed blood cell susceptibility to hemolysisSex differenceSex-interaction

Identifiers

PMID35321643
PMCPMC8941732
OpenAlexW4220845068

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.