Original Article

Subject Category: Genetics

Journal of Investigative Dermatology (2007) 127, 2552–2557; doi:10.1038/sj.jid.5700904; published online 14 June 2007

Evidence for Two Susceptibility Loci on Chromosomes 22q12 and 6p21–p22 in Chinese Generalized Vitiligo Families

Yanhua Liang1,2, Sen Yang1,2, Youwen Zhou1,2,3, Jinping Gui4, Yunqing Ren1,2, Jianjun Chen1,2, Xing Fan1,2, Liangdan Sun1,2, Fengli Xiao1,2, Min Gao1,2, Wenhui Du1,2, Qiaoyun Fang2, Shijie Xu5, Wei Huang5 and Xuejun Zhang1,2

  1. 1Department of Dermatology at No. 1 Hospital, Institute of Dermatology, Anhui Medical University, Hefei, China
  2. 2The Key Laboratory of Gene Resource Utilization for Severe Diseases, Ministry of Education, Hefei, China
  3. 3Chieng Genomics Center, Vancouver, British Columbia, Canada
  4. 4Vitiligo Clinic of the Railway Hospital, Xiangfan, Hubei, China
  5. 5Chinese National Human Genome Center at Shanghai, Shanghai, China

Correspondence: Professor Xuejun Zhang, Institute of Dermatology, Anhui Medical University, 69 Meishan Road, Hefei, Anhui 230032, China. E-mail: ayzxj@vip.sina.com

Received 4 March 2007; Revised 6 April 2007; Accepted 11 April 2007; Published online 14 June 2007.

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Abstract

Vitiligo is an acquired depigmentation disorder of the skin and hair caused by the selective destruction of melanocytes from the epidermis that gives rise to well-defined depigmented patches. Strong genetic predisposition has been well recognized. Previous reports have described five significant vitiligo susceptibility loci spread over five different chromosomes, 1p31 (AIS1), 7q (AIS2), 8p (AIS3), 4q13–q21 (AIS4), and 17p (SLEV1). In addition, our previous genome-wide scan of 106 Chinese vitiligo families presented suggestive linkages on five additional chromosome segments, 1p36, 6p21–p22, 6q24–q25, 14q12–q13, and 22q12. To clarify the significance of these suggestive loci, we have now extended this study to a total of 143 Chinese vitiligo families and increased the marker density. Two linkage signals on 6p21–p22 and 22q12 that were previously only suggestive now meet genome-wide criteria for significant linkage, establishing their importance as major vitiligo susceptibility loci. Linkage signals on 1p36 and 6q24–q25 did not improve our previous findings, but on 14q showed negative in the 143 family cohorts. The results presented here further demonstrate the genetic complexity of vitiligo pathogenesis and point to new chromosomal locations for further research to identify the specific genes involved in this process.

Abbreviations:

HLOD, heterogeneity LOD; NPL, nonparametric linkage

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