Abstract
Initial genome-wide scan data provided suggestive evidence for linkage of the asthma phenotype in African-American (AA), but not Caucasian, families to chromosome 11q markers (peak at D11S1985; LOD=2). To refine this region, mapping analysis of 91 AA families (51 multiplex families and 40 asthmatic case-parent trios) was performed with an additional 17 markers flanking the initial peak linkage marker. Multipoint analyses of the 51 multiplex families yielded significant evidence of linkage with a peak non-parametric linkage score of 4.38 at marker D11S1337 (map position 68.6 cM). Furthermore, family-based association and transmission disequilibrium tests conducted on all 91 families showed significant evidence of linkage in the presence of disequilibrium for several individual markers in this region. A putative susceptibility locus was estimated to be at map position 70.8 cM with a confidence interval spanning the linkage peak. Evidence from both linkage and association analyses suggest that this region of chromosome 11 contains one or more susceptibility genes for asthma in these AA families.
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Acknowledgements
We thank all those who have participated in the Collaborative Studies on Genetics of Asthma (CSGA). We extend our gratitude to Maria Stockton, Sharon Patterson, and Linda Freidhoff (deceased) from Johns Hopkins University for their work in subject recruitment and data management. We also thank the principal investigators from the CSGA sites for their useful advice and comments during the writing of this paper: specifically, Dr. Carole Ober from the University of Chicago, Dr. Malcolm Blumenthal from the University of Minnesota, and Dr. Eugene Bleecker from Wake Forest University. This work was supported by NIH grant no. HL-49612.
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S.-K. Huang and R. A. Mathias contributed equally to this work
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Huang, SK., Mathias, R.A., Ehrlich, E. et al. Evidence for asthma susceptibility genes on chromosome 11 in an African-American population. Hum Genet 113, 71–75 (2003). https://doi.org/10.1007/s00439-003-0934-4
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DOI: https://doi.org/10.1007/s00439-003-0934-4