B808 - Genome-wide association study of acne vulgaris and 2d4D - 23/06/2010

B number: 
B808
Principal applicant name: 
Dr Dave Evans (University of Bristol, UK)
Co-applicants: 
Prof Nick Martin (Queensland Institute of Medical Research, ROW), Prof Tim Spector (King's College London, UK), Prof Dorret Boomsma (VU University Medical Centre of Amsterdam, Europe)
Title of project: 
Genome-wide association study of acne vulgaris and 2d:4D.
Proposal summary: 

Acne vulgaris is a common inflammatory disease of the pilosebaceous glands characterized by inflamed (papules, pustules, nodules and cysts) and noninflamed lesions (comedomes) on the face, neck, chest and back. The prevalence of acne in adolescents has been reported as being between 35% and 90%, depending on the method of classification, with peak incidence occurring at between 14 and 17 years in females, and 16 and 19 years in males (1,2). As well as the physical pain and discomfort that acne produces, it is well documented that acne sufferers experience higher levels of psychological distress, are more self-conscious and have a poorer self-image than age-matched controls. A possible role

for genetic factors in the development of acne is based on the observation that relatives of affected individuals are at increased risk of developing acne compared with unrelated individuals. Indeed several recent twin studies suggest that acne and its severity are strongly influenced by genetic factors (3-6).

The purpose of this study is to use the genome-wide association approach to identify loci that contribute to acne severity. We intend to pool genome-wide association data in a meta-analysis using data from other centres including twins from Queensland Institute of Medical Research (Nick Martin), twins from Free University Amsterdam (Dorret Boomsma) and twins from King's College London (Tim Spector).

1 Stathakis V, Kilkenny M, Marks R. Descriptive epidemiology of acne

vulgaris in the community. Australas J Dermatol 1997; 38:115-23.

2 Kilkenny M, Merlin K, Plunkett A, Marks R. The prevalence of common

skin conditions in Australian school students: 3. Acne vulgaris.

Br J Dermatol 1998; 39:840-5.

3 Friedman GD. Twin studies of disease heritability based on medical

records: application to acne vulgaris. Acta Genet Med Gemellol 1984;

33:487-95.

4 Walton S, Wyatt EH, Cunliffe WJ. Genetic control of sebum excretion

and acne-a twin study. Br J Dermatol 1988; 118:393-6.

5 Bataille V, Sneider H, MacGregor AJ et al. The influence of genetics

and environmental factors in the pathogenesis of acne: a twin study

of acne in women. J Invest Dermatol 2002; 119:1317-22.

6 Evans, DM, Kirk KM, Nyholt DR et al. Teenage acne is influenced by genetic factors. British Journal of Dermatology, 152(3), 579-81.

Date proposal received: 
Wednesday, 23 June, 2010
Date proposal approved: 
Wednesday, 23 June, 2010
Keywords: 
Skin
Primary keyword: