NIH funds massive genome studies that identify genetics behind white blood cell counts

(Press-News.org) WHAT: 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 online June 30 in 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.

### WHO: Christopher O'Donnell, M.D., M.P.H., senior advisor to the NHLBI director for genome research and associate director of the NHLBI's Framingham Heart Study, which followed one of the population groups analyzed in these GWAS, and a co-author on all three articles, is available to comment on these findings and their clinical implications. Michael A. Nalls, Ph.D., in the NIA Laboratory of Neurogenetics and a co-author on all three papers is available to speak on how GWAS are making such discoveries possible.

CONTACT: For more information or to schedule an interview with Dr. O'Donnell, contact the NHLBI Office of Communications at 301-496-4236 or nhlbi_news@nhlbi.nih.gov. To schedule an interview with Dr. Nalls, contact the NIA Communications office at 301-496-1752 or nianews3@mail.nih.gov.

The National Heart, Lung, and Blood Institute (NHLBI) is a component of the National Institutes of Health. NHLBI plans, conducts, and supports research related to the causes, prevention, diagnosis, and treatment of heart, blood vessel, lung, and blood diseases; and sleep disorders. The Institute also administers national health education campaigns on women and heart disease, healthy weight for children, and other topics. NHLBI press releases and other materials are available online at: www.nhlbi.nih.gov.

The National Institute on Aging (NIA) leads the federal government effort conducting and supporting research on aging and the health and well-being of older people. The Institute's broad scientific program seeks to understand the nature of aging and to extend the healthy, active years of life. For more information on research, aging, and health, go to www.nia.nih.gov.

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.