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A comprehensive association analysis confirms ZMIZ1 to be a susceptibility gene for vitiligo in Chinese population
  1. Yonghu Sun1,2,3,
  2. Xianbo Zuo1,2,
  3. Xiaodong Zheng1,2,
  4. Fusheng Zhou1,2,
  5. Bo Liang1,2,
  6. Hong Liu3,
  7. Ruixue Chang1,2,
  8. Jinping Gao1,2,
  9. Yujun Sheng1,2,
  10. Hongzhou Cui1,2,
  11. Wenjun Wang1,2,
  12. Anand Kumar Andiappan4,
  13. Olaf Rotzschke4,
  14. Sen Yang1,2,
  15. Liangdan Sun1,2,
  16. Furen Zhang3,
  17. Xuejun Zhang1,2,5,6,
  18. Yunqing Ren1,2,7,
  19. Jianjun Liu1,2,8
  1. 1Institute of Dermatology and Department of Dermatology at No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China
  2. 2Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, Anhui, China
  3. 3Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Science, Jinan, Shandong, China
  4. 4Singapore Immunology Network, Agency for Science, Technology and Research, Singapore, Singapore
  5. 5Department of Dermatology at No. 2 Hospital, Anhui Medical University, Hefei, Anhui, China
  6. 6Department of Dermatology, Huashan Hospital of Fudan University, Shanghai, China
  7. 7Department of Dermatology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
  8. 8School of Life Sciences, Anhui Medical University, Hefei, Anhui, China
  1. Correspondence to
    Dr Jianjun Liu, School of Life Sciences, Anhui Medical University, 81 Meishan Road, Hefei, Anhui 230032, China; liuj3{at} Yunqing Ren, Institute of Dermatology, Anhui Medical University, 81 Meishan Road, Hefei, Anhui 230032, China; yqren1018{at}


Background ZMIZ1 has been shown to be associated with multiple autoimmune diseases and play a role in the development of melanocyte. The association of ZMIZ1 with vitiligo was also suggested, but the evidence did not reach genome-wide significance and has not been confirmed by independent studies.

Methods A fine mapping analysis of the ZMIZ1 locus was carried out in the dataset of 1117 vitiligo patients and 3437 controls through deep imputation. Ten suggestive SNPs were then analysed in an independent validation cohort of 7458 cases and 7542 controls. SNPs within ZMIZ1 locus were functionally annotated using the ENCODE and RegulomeDB databases and published eQTL dataset of primary immune cells.

Results A genome-wide significant association was discovered at rs1408944 (ORcombined=1.18, pcombined=1.38E-09) that locates at a DNAse hypersensitivity site and within a Myb_1 motif carried by the binding sites of six overlapping transcription factors (TFs) within the region. Gene Relationships Across Implicated Loci (GRAIL) analysis revealed biological connectivity between ZMIZ1 and previously discovered susceptibility loci for vitiligo as well as the six TFs.

Conclusions Our study has confirmed ZMIZ1 as a novel susceptibility locus for vitiligo and further suggested rs1408944 to be the putative causal variant that potentially interrupts TF binding and thus the transcriptional regulation of ZMIZ1.

  • Vitiligo
  • ZMIZ1
  • fine-mapping

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