First Ever Genome-Wide Association Study of Combined Phenotype May Allow for Improved Identification of Variants Associated with Asthma-With-Hay Fever
Mountain View, Calif. – January 28, 2014 – 23andMe, the leading personal genetics company, has participated in the first ever genome-wide association study of the combined asthma-with-hay fever phenotype. Led by researchers at the QIMR Berghofer Medical Research Institute, the study identified 11 independent genetic markers associated with the development of asthma-with-hay fever, including two associations reaching a level of significance with allergic disease for the first time.
Through these findings, 23andMe aims to substantially improve the ability to detect genetic risk factors shared between both diseases. Previous research has shown that both asthma and hay fever share 50-90 percent of their genetic susceptibility and 20-50 percent of their environmental susceptibility.[i],[ii] 23andMe has collected information on both conditions through its asthma symptoms survey, and in this analysis used data contributed by 15,072 of its customers. Data was also collected from three additional studies conducted in Australia and the United Kingdom, with cases defined as persons who reported a physician diagnosis of asthma and also hay fever (total N=6,685). This group was compared to a control group of individuals who reported neither a diagnosis of asthma or hay fever (total N=14,091).
“While previous analyses provided evidence of a stronger genetic association of this combined phenotype, there has not been a genome-wide association study exploring the connection in further detail,” said David Hinds, Ph.D., study author and 23andMe principal scientist, statistical genetics. “In this first-of-its-kind study, we’ve identified new genetic associations that can provide the means to identify people at risk for allergic disease with greater efficiency.”
By considering the phenotype of asthma-with-hay fever, 11 independent variants with genome-wide significant associations with disease risk were identified, amongst which were variants in the 8q21 and 16p13 regions, which have now been established as containing genetic risk factors for allergic disease. The study also found that genetic risk factors for allergic disease are located in or near variants ZBTB10 and CLEC16A. Further investigations of the entities underlying both associations may help identify previously unrecognized pathways in the development of asthma and hay fever.
The study, titled “Genome-wide association analysis of the phenotype asthma-with-hay fever for 20,000 persons identified 11 risk loci, including variants near ZBTB10 and CLEC16A” was published on January 2, 2014 in the Journal of Allergy and Clinical Immunology.
Link to the Published Version of the Article: http://www.jacionline.org/article/S0091-6749(13)01643-6/fulltext [i] Duffy DL, Martin NG, Battistutta D, Hopper JL, Mathews JD. Genetics of asthma and hay fever in Australian twins. Am Rev Respir Dis 1990; 142:1351-8. [ii] Thomsen SF, Ulrik CS, Kyvik KO, Ferreira MA, Backer V. Multivariate genetic analysis of atopy phenotypes in a selected sample of twins. Clin Exp Allergy 2006; 36: 1382-90.
23andMe, Inc. is the leading consumer genetics and research company. Founded in 2006, the mission of the company is to help people access, understand and benefit from the human genome. The company was named by TIME as a “Genius Company” in 2018, and featured as Fast Company's #2 Most Innovative Health Company in 2018. 23andMe has millions of customers worldwide, with more than 80 percent of customers consented to participate in research. 23andMe, Inc. is located in Sunnyvale, CA. More information is available at www.23andMe.com.