ArticlePLoS genetics2017
Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.
Article in PLoS genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations.American journal of human genetics · 2026Pooled it
- Genome-wide association study and predictors of neonatal blood cell traits in Hispanic newborns.American journal of human genetics · 2026Article
- Advancements in genetic research by the Hispanic Community Health Study/Study of Latinos: A 10-year retrospective review.HGG advances · 2025Review
- Antihypertensive drug targets and breast cancer risk: a two-sample Mendelian randomization study.European journal of epidemiology · 2024Article
- Limitations of principal components in quantitative genetic association models for human studies.eLife · 2023Article
- Red cell distribution width and its polygenic score in relation to mortality and cardiometabolic outcomes.Frontiers in cardiovascular medicine · 2023Article
- A genome-wide association study in a large community-based cohort identifies multiple loci associated with susceptibility to bacterial and viral infections.Scientific reports · 2022Article
- Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative.Human molecular genetics · 2022Article
- Bayesian model comparison for rare-variant association studies.American journal of human genetics · 2021Article
- The trans-ancestral genomic architecture of glycemic traits.Nature genetics · 2021Article
- An Asian-specific MPL genetic variant alters JAK-STAT signaling and influences platelet count in the population.Human molecular genetics · 2021Article
- Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.American journal of human genetics · 2021Article
- An Overview of Strategies for Detecting Genotype-Phenotype Associations Across Ancestrally Diverse Populations.Frontiers in genetics · 2021Review
- The Role, Function, and Mechanism of Long Intergenic Noncoding RNA1184 (linc01184) in Colorectal Cancer.Disease markers · 2021Article
- The genetic structure and adaptation of Andean highlanders and Amazonians are influenced by the interplay between geography and culture.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Population-Matched Transcriptome Prediction Increases TWAS Discovery and Replication Rate.iScience · 2020Article
- Ancestry-specific associations identified in genome-wide combined-phenotype study of red blood cell traits emphasize benefits of diversity in genomics.BMC genomics · 2020Article
- Mosaic chromosome Y loss is associated with alterations in blood cell counts in UK Biobank men.Scientific reports · 2020Article
- Article
- Impact of Rare and Common Genetic Variants on Diabetes Diagnosis by Hemoglobin A1c in Multi-Ancestry Cohorts: The Trans-Omics for Precision Medicine Program.American journal of human genetics · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
27 authors at 13 institutions in 2 countries.
Funding
Abstract
Prior GWAS have identified loci associated with red blood cell (RBC) traits in populations of European, African, and Asian ancestry. These studies have not included individuals with an Amerindian ancestral background, such as Hispanics/Latinos, nor evaluated the full spectrum of genomic variation beyond single nucleotide variants. Using a custom genotyping array enriched for Amerindian ancestral content and 1000 Genomes imputation, we performed GWAS in 12,502 participants of Hispanic Community Health Study and Study of Latinos (HCHS/SOL) for hematocrit, hemoglobin, RBC count, RBC distribution width (RDW), and RBC indices. Approximately 60% of previously reported RBC trait loci generalized to HCHS/SOL Hispanics/Latinos, including African ancestral alpha- and beta-globin gene variants. In addition to the known 3.8kb alpha-globin copy number variant, we identified an Amerindian ancestral association in an alpha-globin regulatory region on chromosome 16p13.3 for mean corpuscular volume and mean corpuscular hemoglobin. We also discovered and replicated three genome-wide significant variants in previously unreported loci for RDW (SLC12A2 rs17764730, PSMB5 rs941718), and hematocrit (PROX1 rs3754140). Among the proxy variants at the SLC12A2 locus we identified rs3812049, located in a bi-directional promoter between SLC12A2 (which encodes a red cell membrane ion-transport protein) and an upstream anti-sense long-noncoding RNA, LINC01184, as the likely causal variant. We further demonstrate that disruption of the regulatory element harboring rs3812049 affects transcription of SLC12A2 and LINC01184 in human erythroid progenitor cells. Together, these results reinforce the importance of genetic study of diverse ancestral populations, in particular Hispanics/Latinos.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.