Reports
Characteristics of genetic epidemiology and genetic models for vitiligo

https://doi.org/10.1016/j.jaad.2003.12.044Get rights and content

Abstract

Background

Vitiligo occurs with a frequency of 0.1% to 2% in various populations and is classified into several subtypes by its clinical presentation. Although genetic factors are thought to be involved in the cause of vitiligo, the genetic models for different phenotypes of vitiligo are unknown.

Objective

Our purpose was to explore potential genetic models for different phenotypes of vitiligo and analyze genetic epidemiologic characteristics of vitiligo in a Chinese population.

Methods

Information from 2247 patients and members in their families was collected using a uniform questionnaire. Patients' clinical characteristics and their family history were analyzed using software. A complex segregation analysis was conducted to propose potential genetic models for vitiligo.

Results

Different subtypes of vitiligo had different ages of disease onset. In relatives of patients with vitiligo, the risk of developing vitiligo increased with increasing relatedness to the patients with vitiligo. A polygenic additive model was the best model for focal vitiligo, vitiligo vulgaris, acrofacial vitiligo, and segmental vitiligo with approximately 50% heritability in each. For universal vitiligo, the best model was an environmental model.

Conclusion

This study indicated that different phenotypes of vitiligo had different pathogeneses and genetic backgrounds. Onset of vitiligo is possibly affected by both genetic backgrounds and common environmental factors.

Section snippets

Study population

All of the patients included in this report were outpatients who were referred to a collaborative network established to study genetic skin diseases. The network consisted of dermatologists working for hospitals located in Hefei, Xiangfan City, Xi'an, and Beijing, China. In all, 3775 patients (probands) were interviewed and given the diagnosis of vitiligo from July to December 2002. The race of all probands was Chinese Han, the major ethnic group constituting more than 90% of the Chinese

Proband characteristics

Of 2247 probands, 583 (25.9%) individuals had focal, 1035 (46.1%) had vulgaris, 66 (2.9%) had universal, 243 (10.8%) had acrofacial, and 320 (14.2%) had segmental vitiligo. For all types of vitiligo, the interval of onset ages with the highest prevalence was 10 to 14 years (Table I). No statistically significant difference was found in the distributions of ages of onset between male and female probands (Mann-Whitney test, P = 0.243), which was consistent with the findings of Majumder et al.7 In

Discussion

Vitiligo, first noted in approximately 1500 bc, afflicts all populations around the world with diverse prevalence rates among different geographic regions and ethnic groups ranging from 0.1% to 2%.3., 6. Little is known about the genetic nature of vitiligo, although there have been many studies on familial clustering4., 5., 8., 9. and susceptibility genes.12., 13., 14., 15., 16., 17., 18. Previous studies have investigated vitiligo as a whole, ignoring the clinical classifications of vitiligo.

Acknowledgements

We express our gratitude to Drs Weihua Jia, Scott Venners, Xin Xu, Debin Wang, and Jiahu Hao for their valuable comments, suggestions, assistance in statistical analyses, and editing of the manuscript. We thank Dr Tianwen Gao of the Department of Dermatology, Xijing Hospital of Fourth Military Medical University, Shanxi, China, and Dr Shi Lian of the Department of Dermatology, Xuanwu Hospital of the Capital Medical University, Beijing, China, for their help in collecting clinical data.

References (35)

  • A. Alkhateeb et al.

    Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families

    Pigment Cell Res

    (2003)
  • P.P. Majumder et al.

    Pattern of familial aggregation of vitiligo

    Arch Dermatol

    (1993)
  • P.P. Majumder et al.

    A genetical model for vitiligo

    Am J Hum Genet

    (1988)
  • S.K. Nath et al.

    Genetic epidemiology of vitiligo: multilocus recessivity cross-validated

    Am J Hum Genet

    (1994)
  • S.M. Kim et al.

    The genetics of vitiligo in Korean patients

    Int J Dermatol

    (1997)
  • M. Zamani et al.

    Linkage and association of HLA class II genes with vitiligo in a Dutch population

    Br J Dermatol

    (2001)
  • M. Arcos-Burgos et al.

    Vitiligo: complex segregation and linkage disequilibrium analyses with respect to microsatellite loci spanning the HLA

    Hum Genet

    (2002)
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    Supported by grant 2001AA227031 from Chinese High Tec Programs (863). Some of the results of this study were obtained by using the SAGE software, which is supported by a US Public Health Service Resource Grant (RR03655) from the National Center for Research Resources.

    Conflicts of interest: None identified.

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