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Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21 - Nature Genetics

  • ️Liu, Jian-Jun
  • ️Sun Jan 25 2009

References

  1. Bhalerao, J. & Bowcock, A.M. The genetics of psoriasis: a complex disorder of the skin and immune system. Hum. Mol. Genet. 7, 1537–1545 (1998).

    Article  CAS  PubMed  Google Scholar 

  2. Cargill, M. et al. A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am. J. Hum. Genet. 80, 273–290 (2007).

    Article  CAS  PubMed  Google Scholar 

  3. Simons, R.D. Additional studies on psoriasis in the tropics and in starvation camps. J. Invest. Dermatol. 12, 285–294 (1949).

    Article  CAS  PubMed  Google Scholar 

  4. Yip, S.Y. The prevalence of psoriasis in the Mongoloid race. J. Am. Acad. Dermatol. 10, 965–968 (1984).

    Article  CAS  PubMed  Google Scholar 

  5. Henseler, T. & Christophers, E. Psoriasis of early and late onset: characterization of two types of psoriasis vulgaris. J. Am. Acad. Dermatol. 13, 450–456 (1985).

    Article  CAS  PubMed  Google Scholar 

  6. Zhang, X., Wang, H., Te-Shao, H., Yang, S. & Chen, S. The genetic epidemiology of psoriasis vulgaris in Chinese Han. Int. J. Dermatol. 41, 663–669 (2002).

    Article  PubMed  Google Scholar 

  7. Nair, R.P. et al. Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene. Am. J. Hum. Genet. 78, 827–851 (2006).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Fan, X. et al. Fine mapping of the psoriasis susceptibility locus PSORS1 supports HLA-C as the susceptibility gene in the Han Chinese population. PLoS Genet. 4, e1000038 (2008).

    Article  PubMed  PubMed Central  Google Scholar 

  9. Schön, M.P. & Boehncke, W.H. Psoriasis. N. Engl. J. Med. 352, 1899–1912 (2005).

    Article  PubMed  Google Scholar 

  10. Zhang, X.J. et al. Polymorphisms in interleukin-15 gene on chromosome 4q31.2 are associated with psoriasis vulgaris in Chinese population. J. Invest. Dermatol. 127, 2544–2551 (2007).

    Article  CAS  PubMed  Google Scholar 

  11. Liu, Y. et al. A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. PLoS Genet. 4, e1000041 (2008).

    Article  PubMed  PubMed Central  Google Scholar 

  12. Bowcock, A.M. Psoriasis genetics: the way forward. J. Invest. Dermatol. 122, xv–xvii (2004).

    Article  CAS  PubMed  Google Scholar 

  13. Lesueur, F. et al. ADAM33, a new candidate for psoriasis susceptibility. PLoS ONE 2, e906 (2007).

    Article  PubMed  PubMed Central  Google Scholar 

  14. Capon, F. et al. Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene. Hum. Mol. Genet. 17, 1938–1945 (2008).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Capon, F. et al. Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis. Hum. Genet. 122, 201–206 (2007).

    Article  CAS  PubMed  Google Scholar 

  16. Chang, Y.T. et al. Cytokine gene polymorphisms in Chinese patients with psoriasis. Br. J. Dermatol. 156, 899–905 (2007).

    Article  CAS  PubMed  Google Scholar 

  17. Tsunemi, Y. et al. Interleukin-12 p40 gene (IL12B) 3′-untranslated region polymorphism is associated with susceptibility to atopic dermatitis and psoriasis vulgaris. J. Dermatol. Sci. 30, 161–166 (2002).

    Article  CAS  PubMed  Google Scholar 

  18. Backendorf, C. & Hohl, D. A common origin for cornified envelope proteins? Nat. Genet. 2, 91 (1992).

    Article  CAS  PubMed  Google Scholar 

  19. Engelkamp, D., Schafer, B.W., Mattei, M.G., Erne, P. & Heizmann, C.W. Six S100 genes are clustered on human chromosome 1q21: identification of two genes coding for the two previously unreported calcium-binding proteins S100D and S100E. Proc. Natl. Acad. Sci. USA 90, 6547–6551 (1993).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. Mischke, D., Korge, B.P., Marenholz, I., Volz, A. & Ziegler, A. Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex (“epidermal differentiation complex”) on human chromosome 1q21. J. Invest. Dermatol. 106, 989–992 (1996).

    Article  CAS  PubMed  Google Scholar 

  21. Wang, A., Johnson, D.G. & MacLeod, M.C. Molecular cloning and characterization of a novel mouse epidermal differentiation gene and its promoter. Genomics 73, 284–290 (2001).

    Article  CAS  PubMed  Google Scholar 

  22. Bowcock, A.M. & Krueger, J.G. Getting under the skin: the immunogenetics of psoriasis. Nat. Rev. Immunol. 5, 699–711 (2005).

    Article  CAS  PubMed  Google Scholar 

  23. Krueger, J.G. & Bowcock, A. Psoriasis pathophysiology: current concepts of pathogenesis. Ann. Rheum. Dis. 64 (Suppl 2), ii30–ii36 (2005).

    CAS  PubMed  PubMed Central  Google Scholar 

  24. Purcell, S. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559–575 (2007).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  25. Price, A.L. et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet. 38, 904–909 (2006).

    Article  CAS  PubMed  Google Scholar 

  26. Mantel, N. & Haenszel, W. Statistical aspects of the analysis of data from retrospective studies of disease. J. Natl. Cancer Inst. 22, 719–748 (1959).

    CAS  PubMed  Google Scholar 

  27. Garcia-Closas, M. et al. Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet. 4, e1000054 (2008).

    Article  PubMed  PubMed Central  Google Scholar 

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Acknowledgements

We thank G.P. Zhao, G.Y. Xu, L. Jin, X. Zhang, S.J. Xu and Z.G. Lin for assistance. And we would like to thank all the volunteers who took part in this work. We also want to thank L. Yi and E. Tantoso for their assistance in data analysis. This work was funded by the Anhui Provincial Special Scientific Program (2007-7), the High-Tech Research and Development Program of China (863 Plan) (2007AA02Z161), the Key Project of Natural Science Foundation of China (30530670), National Basic Research Program of China (973 Plan) (2007B516801), General Program of National Natural Science Foundation of China (30671895, 30771196, 30771942) and Agency for Science & Technology and Research of Singapore (A*STAR) (for J.J.L. and X.Y.L.).

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Authors and Affiliations

  1. Institute of Dermatology and Department of Dermatology at No.1 Hospital, Anhui Medical University, Hefei, 230022, Anhui, China

    Xue-Jun Zhang, Sen Yang, Liang-Dan Sun, Feng-Yu Zhang, Qi-Xing Zhu, Chi Zhang, Wen-Hui Du, Hui Li, Feng-Li Xiao, Zai-Xing Wang, Yong Cui, Hui Cheng, Hou-Feng Zheng, Shu-Mei Zhang, Hong-Yan Wang, Yi-Lin Cheng, Jian-Wen Han, Cheng Quan, Bin Chen, Jun-Lin Liu, Da Lin, Li Fan, An-Ping Zhang, Sheng-Xiu Liu, Chun-Jun Yang, Pei-Guang Wang, Wen-Ming Zhou, Guo-Shu Lin, Xing Fan, Min Gao, Wen-Sheng Lu, Zheng Zhang, Kun-Ju Zhu, Song-Ke Shen, Min Li, Xiao-Yan Zhang, Ting-Ting Cao, Wei Ren, Xin Zhang, Jun He, Xian-Fa Tang, Shun Lu, Jian-Qiang Yang, Lin Zhang, Dan-Ni Wang, Feng Yuan, Xian-Yong Yin & Jian-Jun Liu

  2. The Key Laboratory of Gene Resource Utilization for Severe Diseases, Ministry of Education and Anhui Province, Hefei, Anhui, 230032, China

    Xue-Jun Zhang, Sen Yang, Liang-Dan Sun, Feng-Yu Zhang, Qi-Xing Zhu, Chi Zhang, Wen-Hui Du, Hui Li, Feng-Li Xiao, Zai-Xing Wang, Yong Cui, Hui Cheng, Hou-Feng Zheng, Shu-Mei Zhang, Hong-Yan Wang, Yi-Lin Cheng, Qiao-Yun Fang, Fu-Sheng Zhou, Jian-Wen Han, Cheng Quan, Bin Chen, Jun-Lin Liu, Da Lin, Li Fan, An-Ping Zhang, Sheng-Xiu Liu, Chun-Jun Yang, Pei-Guang Wang, Wen-Ming Zhou, Guo-Shu Lin, Xing Fan, Min Gao, Wen-Sheng Lu, Zheng Zhang, Kun-Ju Zhu, Song-Ke Shen, Min Li, Xiao-Yan Zhang, Ting-Ting Cao, Wei Ren, Xin Zhang, Jun He, Xian-Fa Tang, Shun Lu, Jian-Qiang Yang, Lin Zhang, Dan-Ni Wang, Feng Yuan, Xian-Yong Yin & Jian-Jun Liu

  3. Department of Dermatology and Venereology, Anhui Medical University, Hefei, 230032, Anhui, China

    Xue-Jun Zhang, Sen Yang, Liang-Dan Sun, Feng-Yu Zhang, Qi-Xing Zhu, Fu-Ren Zhang, Chi Zhang, Wen-Hui Du, Xiong-Ming Pu, Hui Li, Feng-Li Xiao, Zai-Xing Wang, Yong Cui, Xue-Qin Yang, Hui Cheng, Hou-Feng Zheng, Shu-Mei Zhang, Hong-Yan Wang, Yi-Lin Cheng, Jian-Wen Han, Cheng Quan, Bin Chen, Jun-Lin Liu, Da Lin, Li Fan, An-Ping Zhang, Sheng-Xiu Liu, Chun-Jun Yang, Pei-Guang Wang, Wen-Ming Zhou, Guo-Shu Lin, Wei-Dong Wu, Xing Fan, Min Gao, Bao-Qi Yang, Wen-Sheng Lu, Zheng Zhang, Kun-Ju Zhu, Song-Ke Shen, Min Li, Xiao-Yan Zhang, Ting-Ting Cao, Wei Ren, Xin Zhang, Jun He, Xian-Fa Tang, Shun Lu, Jian-Qiang Yang, Lin Zhang, Dan-Ni Wang, Feng Yuan & Xian-Yong Yin

  4. Chinese National Human Genome Center at Shanghai, Shanghai, 201203, China

    Wei Huang, Hong-Jie Huang & Hai-Feng Wang

  5. The National Engineering Center for Biochip Design and Engineer in Shanghai, Shanghai, 201203, China

    Wei Huang, Hong-Jie Huang & Hai-Feng Wang

  6. Shandong Provincial Institute of Dermatology and Venereology, Jinan, 250022, Shandong, China

    Fu-Ren Zhang & Bao-Qi Yang

  7. Department of Dermatology, People's Hospital of Xinjiang Uygur Autonomous Region, Urumchi, 830001, Xinjiang, China

    Xiong-Ming Pu & Wei-Dong Wu

  8. Department of Dermatology, Southwest Hospital, Third Military Medical University, Chongqing, 400038, China

    Fei Hao

  9. Department of Dermatology, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai, 200025, China

    Jie Zheng

  10. Department of Dermatology, The General Hospital of Air Force, PLA, Beijing, 100036, China

    Xue-Qin Yang

  11. Department of Dermatology, No. 1 Hospital of China Medical University, Shenyang, 110001, Liaoning, China

    Chun-Di He

  12. Department of Dermatology, the 1st Affiliated Hospital of Dalian Medical University, Dalian, 116011, Liaoning, China

    Xiao-Ming Liu

  13. Department of Dermatology, Changzheng Hospital, Tianjin, 300120, China

    Li-Min Xu

  14. Department of Dermatology, Peking University People's Hospital, Beijing, 100044, China

    Jian-Zhong Zhang

  15. Department of Dermatology, Yijishan Hospital of Wannan Medical College, Wuhu, 241000, Anhui, China

    Bi-Hua Ji

  16. Department of Dermatology, Second Affiliated Hospital of Harbin Medical University, Harbin, 150086, Heilongjiang, China

    Yu-Zhen Li

  17. Human Genetics, Genome Institute of Singapore, Singapore, 138672, Singapore

    Xin-Yi Lin & Jian-Jun Liu

Authors

  1. Xue-Jun Zhang

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  2. Wei Huang

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  3. Sen Yang

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  4. Liang-Dan Sun

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  5. Feng-Yu Zhang

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  6. Qi-Xing Zhu

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  7. Fu-Ren Zhang

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  8. Chi Zhang

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  9. Wen-Hui Du

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  10. Xiong-Ming Pu

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  11. Hui Li

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  12. Feng-Li Xiao

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  13. Zai-Xing Wang

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  14. Yong Cui

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  15. Fei Hao

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  16. Jie Zheng

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  17. Xue-Qin Yang

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  18. Hui Cheng

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  19. Chun-Di He

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  20. Xiao-Ming Liu

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  21. Li-Min Xu

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  22. Hou-Feng Zheng

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  23. Shu-Mei Zhang

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  24. Jian-Zhong Zhang

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  25. Hong-Yan Wang

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  26. Yi-Lin Cheng

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  27. Bi-Hua Ji

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  28. Qiao-Yun Fang

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  29. Yu-Zhen Li

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  30. Fu-Sheng Zhou

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  31. Jian-Wen Han

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  32. Cheng Quan

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  33. Bin Chen

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  34. Jun-Lin Liu

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  35. Da Lin

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  36. Li Fan

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  37. An-Ping Zhang

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  38. Sheng-Xiu Liu

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  39. Chun-Jun Yang

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  40. Pei-Guang Wang

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  41. Wen-Ming Zhou

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  42. Guo-Shu Lin

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  43. Wei-Dong Wu

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  44. Xing Fan

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  45. Min Gao

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  46. Bao-Qi Yang

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  47. Wen-Sheng Lu

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  48. Zheng Zhang

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  49. Kun-Ju Zhu

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  50. Song-Ke Shen

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  51. Min Li

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  52. Xiao-Yan Zhang

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  53. Ting-Ting Cao

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  54. Wei Ren

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  55. Xin Zhang

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  56. Jun He

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  57. Xian-Fa Tang

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  58. Shun Lu

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  59. Jian-Qiang Yang

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  60. Lin Zhang

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  61. Dan-Ni Wang

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  62. Feng Yuan

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  63. Xian-Yong Yin

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  64. Hong-Jie Huang

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  65. Hai-Feng Wang

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  66. Xin-Yi Lin

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  67. Jian-Jun Liu

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Contributions

X.-J.Z. conceived of this study and obtained financial support. X.-J.Z., S.Y. and J.-J.L. designed it. S.Y., Q.-X.Z., F.-L.X., Y.C., W.-H.D., H.L., S.-M.Z., H.C., Z.-X.W., D.L., L.F., A.-P.Z., H.-Y.W., S.-X.L., C.-J.Y., P.-G.W., W.-M.Z., G.-S.L. and X.F. conducted sample selection and data management. W.-S.L., Z.Z., K.-J.Z., J.-L.L., S.-K.S., M.L., X.-Y.Z., T.-T.C., W.R., X.Z., J.H., X.-F.T., S.L., J.-Q.Y., L.Z., D.-N.W., F.Y., M.G. and X.-Y.Y. coordinated and/or undertook recruitment, collected phenotype data, undertook related data handling and calculation, managed recruitment and obtained biological samples. The following authors from the various collaborating groups undertook assembly of case/control series in their respective regions and collected data and samples: F.-R.Z. and B.-Q.Y. in Shandong province; X.-M.P. and W.-D.W. in Xinjiang Uygur Autonomous Region; F.H. in Chongqing city; X.-Q.Y. and J.-Z.Z. in Beijing city; C.-D.H. and X.-M.L. in Liaoning province; Y.-Z.L. in Heilongjiang province; L.-M.X. in Tianjin city; B.-H.J. in Wuhu city; J.Z. in Shanghai city; L.-D.S., C.Z., Q.-Y.F., F.-S.Z. Y.-L.C., J.-W.H., C.Q., B.C., H.-J.H., H.-F.W., W.H. performed the two-stage genotyping and sequencing. F.-Y.Z., H.-F.Z. and X.-Y.L. undertook data manipulation, statistical analysis and bio-informatic interrogations. All authors contributed to the final paper, with X.-J.Z., S.Y., J.-J.L., F.-Y.Z., L.-D.S. and C.Z. playing key roles.

Corresponding author

Correspondence to Xue-Jun Zhang.

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Zhang, XJ., Huang, W., Yang, S. et al. Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21. Nat Genet 41, 205–210 (2009). https://doi.org/10.1038/ng.310

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  • Received: 28 July 2008

  • Accepted: 10 November 2008

  • Published: 25 January 2009

  • Issue Date: February 2009

  • DOI: https://doi.org/10.1038/ng.310