Active: Hematocrit Clear all

GWAS 2021-07-27

GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms.

Ward LD, Tu HC et al.

Nat Commun

Understanding mechanisms of hepatocellular damage may lead to new treatments for liver disease, and ...

Extrahepatic cholangiocarcinoma

408183

Participants

N/A

Studies

Details PubMed

GWAS 2021-04-21

Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.

Hu Y, Stilp AM et al.

Am J Hum Genet

Whole-genome sequencing (WGS), a powerful tool for detecting novel coding and non-coding disease-cau...

Hematocrit

62487

Participants

N/A

Studies

Details PubMed

GWAS 2020-08-05

Septic Shock: A Genomewide Association Study and Polygenic Risk Score Analysis.

D'Urso S, Rajbhandari D et al.

Twin Res Hum Genet

Previous genetic association studies have failed to identify loci robustly associated with sepsis, a...

Septic shock (28-day mortality)

493

Participants

N/A

Studies

Details PubMed

GWAS 2020-03-14

Ancestry-specific associations identified in genome-wide combined-phenotype study of red blood cell traits emphasize benefits of diversity in genomics.

Hodonsky CJ, Baldassari AR et al.

BMC Genomics

Quantitative red blood cell (RBC) traits are highly polygenic clinically relevant traits, with appro...

Hematocrit

20704

Participants

N/A

Studies

Details PubMed

GWAS 2019-12-23

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations.

Kowalski MH, Qian H et al.

PLoS Genet

Most genome-wide association and fine-mapping studies to date have been conducted in individuals of ...

Hematocrit

Replicated

50231

Participants

N/A

Studies

Details PubMed

GWAS 2017-04-28

Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.

Hodonsky CJ, Jain D et al.

PLoS Genet

Prior GWAS have identified loci associated with red blood cell (RBC) traits in populations of Europe...

Hematocrit

Replicated

19608

Participants

N/A

Studies

Details PubMed

GWAS 2016-11-03

Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

He L, Kernogitski Y et al.

Front Genet

Age-related diseases may result from shared biological mechanisms in intrinsic processes of aging. G...

Age-related diseases and mortality

Replicated

29414

Participants

N/A

Studies

Details PubMed

GWAS 2014-04-28

Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.

Auer PL, Teumer A et al.

Nat Genet

Hematological traits are important clinical parameters. To test the effects of rare and low-frequenc...

Platelet count

Replicated

31340

Participants

N/A

Studies

Details PubMed

GWAS 2013-05-20

Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study.

Ding K, de Andrade M et al.

G3 (Bethesda)

To identify novel genetic loci influencing interindividual variation in red blood cell (RBC) traits ...

Red blood cell traits

Replicated

2315

Participants

N/A

Studies

Details PubMed

GWAS 2013-02-26

Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.

Chen Z, Tang H et al.

Hum Mol Genet

Laboratory red blood cell (RBC) measurements are clinically important, heritable and differ among et...

Red blood cell traits

Replicated

61285

Participants

N/A

Studies

Details PubMed

GWAS 2012-12-20

GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

Li J, Glessner JT et al.

Hum Mol Genet

Hematological traits are important clinical indicators, the genetic determinants of which have not b...

Mean corpuscular hemoglobin

14177

Participants

N/A

Studies

Details PubMed

GWAS 2009-10-11

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

Ganesh SK, Zakai NA et al.

Nat Genet

Measurements of erythrocytes within the blood are important clinical traits and can indicate various...

Mean corpuscular hemoglobin

Replicated

33623

Participants

N/A

Studies

Details PubMed

Title

Author

Journal

Disease/Trait

Date

Actions

GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms.

Ward LD, Tu HC et al.

Nat Commun

Extrahepatic cholangiocarcinoma

2021-07-27

Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.

Hu Y, Stilp AM et al.

Am J Hum Genet

Hematocrit

2021-04-21

Septic Shock: A Genomewide Association Study and Polygenic Risk Score Analysis.

D'Urso S, Rajbhandari D et al.

Twin Res Hum Genet

Septic shock (28-day mortality)

2020-08-05

Ancestry-specific associations identified in genome-wide combined-phenotype study of red blood cell traits emphasize benefits of diversity in genomics.

Hodonsky CJ, Baldassari AR et al.

BMC Genomics

Hematocrit

2020-03-14

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations.

Kowalski MH, Qian H et al.

PLoS Genet

Hematocrit

2019-12-23

Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.

Hodonsky CJ, Jain D et al.

PLoS Genet

Hematocrit

2017-04-28

Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

He L, Kernogitski Y et al.

Front Genet

Age-related diseases and mortality

2016-11-03

Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.

Auer PL, Teumer A et al.

Nat Genet

Platelet count

2014-04-28

Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study.

Ding K, de Andrade M et al.

G3 (Bethesda)

Red blood cell traits

2013-05-20

Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.

Chen Z, Tang H et al.

Hum Mol Genet

Red blood cell traits

2013-02-26

GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

Li J, Glessner JT et al.

Hum Mol Genet

Mean corpuscular hemoglobin

2012-12-20

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

Ganesh SK, Zakai NA et al.

Nat Genet

Mean corpuscular hemoglobin

2009-10-11