July 1, 2011 A trio of large-scale genome-wide association studies, or GWAS, have identified more than 15 gene variants responsible for the diversity of white blood cell counts among whites, African-Americans, and Japanese. Supported in part by the National Institutes of Health, each study examined the genomes of tens of thousands of people. Combined, the studies offer the first comprehensive analysis into why some people, and some populations, have more or fewer white blood cells than others.
All three articles will be published June 30 by the Public Library of Science in the online journal PLoS Genetics.
White blood cells are part of the immune system, which fights infections and diseases. Measuring white blood cell levels is a common diagnostic test that can reveal underlying infections, cancers, or immune system disorders. Some scientific studies have also linked higher levels of white blood cells to increased risk of disease, including heart disease.
Some of the identified gene variants were responsible for altering total numbers of white blood cells, while other variants affected only one specific cell subtype, such as neutrophils, basophils, eosinophils, lymphocytes, and monocytes.
The findings could lead to important clinical advances. For example, these gene variants could be tested to pinpoint disease risks earlier in life. In addition, understanding the genetic basis behind altered white blood cell counts might also lead to gene therapies, such as boosting white blood cells in immune compromised people or reducing them in leukemia patients.
The National Heart, Lung, and Blood Institute, together with the National Institute on Aging, both part of the NIH, played key roles in the funding and design of both the white and African-American studies. The Institutes also worked closely with Japanese scientists to develop the third study.
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- Okada Y, Hirota T, Kamatani Y, Takahashi A, Ohmiya H, et al. Identification of Nine Novel Loci Associated with White Blood Cell Subtypes in a Japanese Population. PLoS Genetics, 2011; 7 (6): e1002067 DOI: 10.1371/journal.pgen.1002067
- Reiner AP, Lettre G, Nalls MA, Ganesh SK, Mathias R, et al. Genome-Wide Association Study of White Blood Cell Count in 16,388 African Americans: the Continental Origins and Genetic Epidemiology Network (COGENT). PLoS Genetics, 2011; 7 (6): e1002108 DOI: 10.1371/journal.pgen.1002108
- Nalls MA, Couper DJ, Tanaka T, van Rooij FJA, Chen M-H, et al. Multiple Loci Are Associated with White Blood Cell Phenotypes. PLoS Genetics, 2011; 7 (6): e1002113 DOI: 10.1371/journal.pgen.1002113
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