| Title |
Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos
|
|---|---|
| Published in |
PLoS Genetics, April 2017
|
| DOI | 10.1371/journal.pgen.1006760 |
| Pubmed ID | |
| Authors |
Chani J. Hodonsky, Deepti Jain, Ursula M. Schick, Jean V. Morrison, Lisa Brown, Caitlin P. McHugh, Claudia Schurmann, Diane D. Chen, Yong Mei Liu, Paul L. Auer, Cecilia A. Laurie, Kent D. Taylor, Brian L. Browning, Yun Li, George Papanicolaou, Jerome I. Rotter, Ryo Kurita, Yukio Nakamura, Sharon R. Browning, Ruth J. F. Loos, Kari E. North, Cathy C. Laurie, Timothy A. Thornton, Nathan Pankratz, Daniel E. Bauer, Tamar Sofer, Alex P. Reiner |
| 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. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 3 | 38% |
| Netherlands | 1 | 13% |
| United Kingdom | 1 | 13% |
| Unknown | 3 | 38% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 5 | 63% |
| Scientists | 3 | 38% |
Mendeley readers
The data shown below were compiled from readership statistics for 71 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Germany | 1 | 1% |
| Unknown | 70 | 99% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 10 | 14% |
| Student > Bachelor | 10 | 14% |
| Student > Ph. D. Student | 9 | 13% |
| Student > Master | 7 | 10% |
| Other | 5 | 7% |
| Other | 11 | 15% |
| Unknown | 19 | 27% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 18 | 25% |
| Medicine and Dentistry | 12 | 17% |
| Agricultural and Biological Sciences | 8 | 11% |
| Immunology and Microbiology | 2 | 3% |
| Mathematics | 2 | 3% |
| Other | 7 | 10% |
| Unknown | 22 | 31% |
Attention Score in Context
This research output has an Altmetric Attention Score of 15. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 05 May 2017.
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#2,451,475
of 25,806,080 outputs
Outputs from PLoS Genetics
#1,992
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#43,602
of 325,583 outputs
Outputs of similar age from PLoS Genetics
#57
of 167 outputs
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