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>>> Healthcare Gene Discovered that Raises Asthma Risk in Blacks By Julie Steenhuysen U


.S. researchers have discovered a ge- netic mutation unique to African Ameri-


cans that could help explain why blacks are so susceptible to asthma. Prior studies looking for asthma genes have turned up several, but most of the studies have been too small to confirm these genes or to detect genetic changes unique to different races. The new study, published on Sunday in the journal Nature Genetics, pools research from nine different research groups look- ing for genes associated


with asthma


among ethnically diverse North American populations. It confirmed four genes that had been


seen in previous studies and a fifth that shows up only in people of African de- scent.


“This is the first discovery of a gene where we see a signal in African Ameri- cans only,” Dan Nicolae of the University of Chicago, a study author and co-chair of a national research consortium called EVE that identified the gene, said in a telephone interview.


“The rates of asthma in different ethnic


groups are different. African Americans have shown increasing asthma rates. We don’t know why. It can be due to changing environmental risk factors,” Nicolae said. But, he said, the new findings suggest genetics also play a significant role. “Understanding these genetic links is an


important first step toward our goal of re- lieving the increased burden of asthma in this population,” said Dr. Susan Shurin, acting director of the National Heart, Lung, and Blood Institute, one of the National In- stitutes of Health, which co-funded the study. The group also received a major grant


from the American Recovery and Rein- vestment Act of 2009. Asthma affects more than 300 million


people globally, but effects vary widely. According to the researchers, U.S. asthma


The Black EOE Journal


rates in 2001 to 2003 ranged from 7.7 per- cent among European Americans to 12.5 percent among African Americans. Carole Ober of the University of Chi- cago, who co-leads the EVE consortium, said the findings confirm the significance of four genes identified in a large European asthma genetics study published last year called GABRIEL, offering strong evidence that these genes are important across ethnic groups.


But because the study was so large and


ethnically diverse -- including data on Eu- ropean Americans, African Americans, Af- rican Caribbeans and Latinos -- it enabled the researchers to find this new gene vari- ant that exists only in African Americans and African Caribbeans. This new variant, located in a gene


called PYHIN1, is part of a family of genes linked with the body’s response to viral in- fections, Ober said. “We were very excited when we real-


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ized it doesn’t exist in Europe,” she said. The team stressed that each gene variant on its own plays only a small role in in- creasing asthma risk, but that risk could be multiplied when combined with other risk genes and with environmental factors, such as smoking, that also increase asthma risk. “It’s been extraordinarily challenging to


try to find variation in genes that are asso- ciated with risk for developing asthma that can be replicated among populations. It’s a very complex disease with a lot of genes and a lot of environmental factors influenc- ing risk,” Ober said. The findings now give researchers new areas to explore in understanding the inter- play of genetics and the environment in asthma risk, and may lead to better treat- ments.


“What you see here in this paper is only the beginning,” Nicolae said.


Source: U.S. Department of Health and Human Services 55


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