Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation
作者： Geneviève Galarneau , Cameron D Palmer , Vijay G Sankaran , Stuart H Orkin , Joel N Hirschhorn
DOI: 10.1038/NG.707
关键词:
摘要: We used resequencing and genotyping in African Americans with sickle cell anemia (SCA) to characterize associations fetal hemoglobin (HbF) levels at the BCL11A, HBS1L-MYB β-globin loci. Fine-mapping of HbF association signals these loci confirmed seven SNPs independent effects increased explained heritable variation from 38.6% 49.5%. also identified rare missense variants that causally implicate MYB production.
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sci-hub.se 参考文章(14)
Vijay G. Sankaran, Tobias F. Menne, Jian Xu, Thomas E. Akie, Guillaume Lettre, Ben Van Handel, Hanna K. A. Mikkola, Joel N. Hirschhorn, Alan B. Cantor, Stuart H. Orkin, Human Fetal Hemoglobin Expression Is Regulated by the Developmental Stage-Specific Repressor BCL11A Science. ,vol. 322, pp. 1839- 1842 ,(2008) , 10.1126/SCIENCE.1165409
Vijay G. Sankaran, Jian Xu, Tobias Ragoczy, Gregory C. Ippolito, Carl R. Walkley, Shanna D. Maika, Yuko Fujiwara, Masafumi Ito, Mark Groudine, M. A. Bender, Philip W. Tucker, Stuart H. Orkin, Developmental and species-divergent globin switching are driven by BCL11A Nature. ,vol. 460, pp. 1093- 1097 ,(2009) , 10.1038/NATURE08243
Teri A Manolio, Francis S Collins, Nancy J Cox, David B Goldstein, Lucia A Hindorff, David J Hunter, Mark I McCarthy, Erin M Ramos, Lon R Cardon, Aravinda Chakravarti, Judy H Cho, Alan E Guttmacher, Augustine Kong, Leonid Kruglyak, Elaine Mardis, Charles N Rotimi, Montgomery Slatkin, David Valle, Alice S Whittemore, Michael Boehnke, Andrew G Clark, Evan E Eichler, Greg Gibson, Jonathan L Haines, Trudy FC Mackay, Steven A McCarroll, Peter M Visscher, None, Finding the missing heritability of complex diseases. Nature. ,vol. 461, pp. 747- 753 ,(2009) , 10.1038/NATURE08494
D. Labie, J. Pagnier, C. Lapoumeroulie, F. Rouabhi, O. Dunda-Belkhodja, P. Chardin, C. Beldjord, H. Wajcman, M. E. Fabry, R. L. Nagel, Common haplotype dependency of high G gamma-globin gene expression and high Hb F levels in beta-thalassemia and sickle cell anemia patients Proceedings of the National Academy of Sciences of the United States of America. ,vol. 82, pp. 2111- 2114 ,(1985) , 10.1073/PNAS.82.7.2111
S. L. Thein, S. Menzel, X. Peng, S. Best, J. Jiang, J. Close, N. Silver, A. Gerovasilli, C. Ping, M. Yamaguchi, K. Wahlberg, P. Ulug, T. D. Spector, C. Garner, F. Matsuda, M. Farrall, M. Lathrop, Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 104, pp. 11346- 11351 ,(2007) , 10.1073/PNAS.0611393104
S. Nejentsev, N. Walker, D. Riches, M. Egholm, J. A. Todd, Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science. ,vol. 324, pp. 387- 389 ,(2009) , 10.1126/SCIENCE.1167728
Nadia Solovieff, Jacqueline N Milton, Stephen W Hartley, Richard Sherva, Paola Sebastiani, Daniel A Dworkis, Elizabeth S Klings, Lindsay A Farrer, Melanie E Garrett, Allison Ashley-Koch, Marilyn J Telen, Supan Fucharoen, Shau Yin Ha, Chi-Kong Li, David HK Chui, Clinton T Baldwin, Martin H Steinberg, None, Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster Blood. ,vol. 115, pp. 1815- 1822 ,(2010) , 10.1182/BLOOD-2009-08-239517
Stephan Menzel, Chad Garner, Ivo Gut, Fumihiko Matsuda, Masao Yamaguchi, Simon Heath, Mario Foglio, Diana Zelenika, Anne Boland, Helen Rooks, Steve Best, Tim D Spector, Martin Farrall, Mark Lathrop, Swee Lay Thein, None, A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nature Genetics. ,vol. 39, pp. 1197- 1199 ,(2007) , 10.1038/NG2108
Samuel P. Dickson, Kai Wang, Ian Krantz, Hakon Hakonarson, David B. Goldstein, Rare Variants Create Synthetic Genome-Wide Associations PLoS Biology. ,vol. 8, pp. e1000294- ,(2010) , 10.1371/JOURNAL.PBIO.1000294
Manit Nuinoon, Wattanan Makarasara, Taisei Mushiroda, Iswari Setianingsih, Pustika Amalia Wahidiyat, Orapan Sripichai, Natsuhiko Kumasaka, Atsushi Takahashi, Saovaros Svasti, Thongperm Munkongdee, Surakameth Mahasirimongkol, Chayanon Peerapittayamongkol, Vip Viprakasit, Naoyuki Kamatani, Pranee Winichagoon, Michiaki Kubo, Yusuke Nakamura, Suthat Fucharoen, A genome-wide association identified the common genetic variants influence disease severity in β0-thalassemia/hemoglobin E Human Genetics. ,vol. 127, pp. 303- 314 ,(2010) , 10.1007/S00439-009-0770-2