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The Acne Genes

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Pathogenesis and Treatment of Acne and Rosacea

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Abstract

Acne is one of the most common skin diseases. Many epidemiologic studies and twin studies have provided substantial evidence about the genetic influence in the development of acne [1–5], at least in certain stages of acne such as neonatal acne, teenage acne [6], adult persistent acne, or in special forms of acne such as acne comedonica, acne inversa [7, 8], acne fulminans [9], or in acne severity [10] and therapeutic resistance [11]. Acne is very likely mediated by polygenic inheritance or multifactorial inheritance attributed to the interplay between multiple genes and the environment, especially the sex hormones. It is unknown if each candidate “acne gene” contributes equally or additively to the disease phenotype, or whether there exists a master gene that presides or leads the disease development. All the candidate genes may influence each other and perpetuate the disease process. The problem in many of the existing epidemiologic studies may include (1) a small sample size with single or few families examined without matched control; (2) lack of standardization in the disease definition or severity classification; (3) variability of age onset, duration, course, and psychosocial influence.

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References

  1. Friedman GD. Twin studies of disease heritability based on medical records: application to acne vulgaris. Acta Genet Med Gemellol (Roma). 1984;33:487–95.

    CAS  Google Scholar 

  2. Goulden V, McGeown CH, Cunliffe WJ. The familial risk of adult acne: a comparison between first-degree relatives of affected and unaffected individuals. Br J Dermatol. 1999;141:297–300.

    Article  CAS  PubMed  Google Scholar 

  3. Bataille V, Snieder 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. 2000;119:1317–22.

    Article  Google Scholar 

  4. Lee MR, Cooper A. Acne vulgaris in monozygotic twins. Australas J Dermatol. 2006;47:145.

    Article  Google Scholar 

  5. Xu SX, Wang HL, Fan X, et al. The familial risk of acne vulgaris in Chinese Hans - a case-control study. J Eur Acad Dermatol Venereol. 2007;21:602–5.

    CAS  PubMed  Google Scholar 

  6. Evans DM, Kirk KM, Nyholt DR, et al. Teenage acne is influenced by genetic factors. Br J Dermatol. 2005;152:579–81.

    Article  CAS  PubMed  Google Scholar 

  7. Fitzsimmons JS, Guilbert PR. A family study of hidradenitis suppurativa. J Med Genet. 1985;22:367–73.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  8. Gao M, Wang PG, Cui Y, et al. Inversa acne (hidradenitis suppurativa): a case report and identification of the locus at chromosome 1p21.1-1q25.3. J Invest Dermatol. 2006;126:1302–6.

    Article  CAS  PubMed  Google Scholar 

  9. Wong SS, Pritchard MH, Holt PJ. Familial acne fulminans. Clin Exp Dermatol. 1992;17:351–3.

    Article  CAS  PubMed  Google Scholar 

  10. Herane MI, Ando I. Acne in infancy and acne genetics. Dermatology. 2003;206:24–8.

    Article  PubMed  Google Scholar 

  11. Ballanger F, Baudry P, N'Guyen JM, et al. Heredity: a prognostic factor for acne. Dermatology. 2006;212:145–9.

    Article  CAS  PubMed  Google Scholar 

  12. Plewig G, Kligman AM. Acne and Rosacea. 3rd ed. Berlin: Springer; 2000.

    Book  Google Scholar 

  13. Paraskevaidis A, Drakoulis N, Roots I, et al. Polymorphisms in the human cytochrome P-450 1A1 gene (CYP1A1) as a factor for developing acne. Dermatology. 1998;196:171–5.

    Article  CAS  PubMed  Google Scholar 

  14. Heise R, Mey J, Neis MM, et al. Skin retinoid concentrations are modulated by CYP26AI expression restricted to basal keratinocytes in normal human skin and differentiated 3D skin models. J Invest Dermatol. 2006;126:2473–80.

    Article  CAS  PubMed  Google Scholar 

  15. Guy R, Green MR, Kealey T. Modeling acne in vitro. J Invest Dermatol. 1996;106:176–82.

    Article  CAS  PubMed  Google Scholar 

  16. DeWitt CA, Siroy AE, Stone SP. Acneiform eruptions associated with epidermal growth factor receptor-targeted chemotherapy. J Am Acad Dermatol. 2007;56:500–5.

    Article  PubMed  Google Scholar 

  17. Smith TM, Cong Z, Gilliland KL, et al. Insulin-like growth factor-1 induces lipid production in human SEB-1 sebocytes via sterol response element-binding protein-1. J Invest Dermatol. 2006;126:1226–32.

    Article  CAS  PubMed  Google Scholar 

  18. Kaymak Y, Adisen E, Ilter N, et al. Dietary glycemic index and glucose, insulin, insulin-like growth factor-I, insulin-like growth factor binding protein 3, and leptin levels in patients with acne. J Am Acad Dermatol. 2007;57:819–23.

    Article  PubMed  Google Scholar 

  19. Benjamin LT, Trowers AB, Schachner LA. Successful acne management in Apert syndrome twins. Pediatr Dermatol. 2005;22:561–5.

    Article  PubMed  Google Scholar 

  20. Wilkie AO, Patey SJ, Kan SH, et al. FGFs, their receptors, and human limb malformations: clinical and molecular correlations. Am J Med Genet. 2002;112:266–78.

    Article  PubMed  Google Scholar 

  21. Grose R, Fantl V, Werner S, et al. The role of fibroblast growth factor receptor 2b in skin homeostasis and cancer development. EMBO J. 2007;26:1268–78.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  22. Walton S, Wyatt EH, Cunliffe WJ. Genetic control of sebum excretion and acne-a twin study. Br J Dermatol. 1988;118:393–6.

    Article  CAS  PubMed  Google Scholar 

  23. Moss C. Genetic control of sebum excretion and acne–a twin study. Br J Dermatol. 1989;121:144–5.

    Article  CAS  PubMed  Google Scholar 

  24. Chen W, Yang CC, Liao CY, et al. Expression of sex-determining genes in human sebaceous glands and their possible role in pathogenesis of acne. J Eur Acad Dermatol Venereol. 2006;20:846–52.

    Article  CAS  PubMed  Google Scholar 

  25. Chen W, Yang CC, Tsai RY, et al. Expression of sex-determining genes in the scalp of men with androgenetic alopecia. Dermatology. 2007;214:199–204.

    Article  CAS  PubMed  Google Scholar 

  26. Chen W, Tsai SJ, Liao CY, et al. Higher levels of steroidogenic acute regulatory protein and type I 3β-hydroxysteroid dehydrogenase in the scalp of men with androgenetic alopecia. J Invest Dermatol. 2006;126:2332–5.

    Article  CAS  PubMed  Google Scholar 

  27. Trüeb RM, Meyer JC. Male-pattern baldness in men with X-linked recessive ichthyosis. Dermatology. 2000;200:247–9.

    Article  PubMed  Google Scholar 

  28. Ellis JA, Stebbing M, Harrap SB. Genetic analysis of male pattern baldness and the 5alpha-reductase genes. J Invest Dermatol. 1998;110:849–53.

    Article  CAS  PubMed  Google Scholar 

  29. Hayes VM, Severi G, Padilla EJ, et al. 5alpha-Reductase type 2 gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia. Int J Cancer. 2007;120:776–80.

    Article  CAS  PubMed  Google Scholar 

  30. Ibáñez L, Ong KK, Mongan N, et al. Androgen receptor gene CAG repeat polymorphism in the development of ovarian hyperandrogenism. J Clin Endocrinol Metab. 2003;88:3333–8.

    Article  PubMed  Google Scholar 

  31. Urbanek M. The genetics of the polycystic ovary syndrome. Nat Clin Pract Endocrinol Metab. 2007;3:103–11.

    Article  CAS  PubMed  Google Scholar 

  32. Menke MN, Strauss III JF. Genetic approaches to polycystic ovarian syndrome. Curr Opin Obstet Gynecol. 2007;19:355–9.

    Article  PubMed  Google Scholar 

  33. Degitz K, Placzek M, Arnold B, et al. Congenital adrenal hyperplasia and acne in male patients. Br J Dermatol. 2003;148:1263–6.

    Article  CAS  PubMed  Google Scholar 

  34. Thalmann S, Meier CA. Acne and ‘mild’ adrenal hyperplasia. A short critical review. Dermatology. 2006;213:277–8.

    Article  PubMed  Google Scholar 

  35. New MI. Extensive clinical experience: nonclassical 21-hydroxylase deficiency. Clin Endocrinol Metab. 2006;91:4205–14.

    Article  CAS  Google Scholar 

  36. Globerman H, Karnieli E. Analysis of the insulin receptor gene tyrosine kinase domain in obese patients with hyperandrogenism, insulin resistance and acanthosis nigricans (type C insulin resistance). Int J Obes Relat Metab Disord. 1998;22:349–53.

    Article  CAS  PubMed  Google Scholar 

  37. Zouboulis CC, Seltmann H, Hiroi N, et al. Corticotropin-releasing hormone: an autocrine hormone that promotes lipogenesis in human sebocytes. Proc Natl Acad Sci USA. 2002;99:7148–53.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  38. Böhm M, Schiller M, Ständer S, et al. Evidence for expression of melanocortin-1 receptor in human sebocytes in vitro and in situ. J Invest Dermatol. 2002;118:533–9.

    Article  PubMed  Google Scholar 

  39. Yeon HB, Lindor NM, Seidman JG, et al. Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q. Am J Hum Genet. 2000;66:1443–8.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  40. Shoham NG, Centola M, Mansfield E, et al. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci USA. 2003;100:13501–6.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  41. Dumolard A, Gaudin P, Juvin R, et al. SAPHO syndrome or psoriatic arthritis? A familial case study. Rheumatology (Oxford). 1999;38:463–7.

    Article  CAS  Google Scholar 

  42. Biedermann T. Dissecting the role of infections in atopic dermatitis. Acta Derm Venereol. 2006;86:99–109.

    CAS  PubMed  Google Scholar 

  43. Jugeau S, Tenaud I, Knol AC, et al. Induction of toll-like receptors by Propionibacterium acnes. Br J Dermatol. 2005;153:1105–13.

    Article  CAS  PubMed  Google Scholar 

  44. Kim J, Ochoa MT, Krutzik SR, et al. Activation of toll-like receptor 2 in acne triggers inflammatory cytokine responses. J Immunol. 2002;169:1535–41.

    Article  CAS  PubMed  Google Scholar 

  45. Koreck A, Kis K, Szegedi K, et al. TLR2 and TLR4 polymorphisms are not associated with acne vulgaris. Dermatology. 2006;213:267–9.

    Article  CAS  PubMed  Google Scholar 

  46. Thiboutot D, Bayne E, Thorne J, et al. Immunolocalization of 5alpha-reductase isozymes in acne lesions and normal skin. Arch Dermatol. 2000;136:1125–9.

    Article  CAS  PubMed  Google Scholar 

  47. Chen W, Yang CC, Sheu HM, et al. Expression of PPAR and c/EBP transcription factors in cultured human sebocytes. J Invest Dermatol. 2003;121:441–7.

    Article  CAS  PubMed  Google Scholar 

  48. Trivedi NR, Cong Z, Nelson AM, et al. Peroxisome proliferator-activated receptors increase human sebum production. J Invest Dermatol. 2006;126:2002–9.

    Article  CAS  PubMed  Google Scholar 

  49. Schmuth M, Jiang YJ, Dubrac S, et al. Peroxisome proliferator-activated receptors (PPAR) and liver X receptors (LXR) in epidermal biology. J Lipid Res. 2008;49(3):499–509.

    Article  CAS  PubMed  Google Scholar 

  50. Ottaviani M, Alestas T, Flori E, et al. Peroxidated squalene induces the production of inflammatory mediators in HaCaT keratinocytes: a possible role in acne vulgaris. J Invest Dermatol. 2006;126:2430–7.

    Article  CAS  PubMed  Google Scholar 

  51. Goodarzi MO. Looking for polycystic ovary syndrome genes: rational and best strategy. Semin Reprod Med. 2008;26:5–13.

    Article  CAS  PubMed  Google Scholar 

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Author information

Authors and Affiliations

  1. Department of Dermatology and Allergy, Technische Universitaet Muenchen, Munich, Germany

    Wen Chieh Chen

  2. Department of Dermatology, National Cheng Kung University College of Medicine and Hospital, Tainan, Taiwan

    Chao-Chun Yang

  3. Departments of Dermatology, Venereology, Allergology and Immunology, Dessau Medical Center, Dessau, Germany

    Christos C. Zouboulis

Authors
  1. Wen Chieh Chen
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  2. Chao-Chun Yang
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  3. Christos C. Zouboulis
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Corresponding author

Correspondence to Wen Chieh Chen .

Editor information

Editors and Affiliations

  1. Departments of Dermatology, Venereology, Allergology, and Immunology, Dessau Medical Center, Dessau, Germany

    Christos C. Zouboulis

  2. Department of Dermatology, Andreas Syngros Hospital, University of Athens, Athens, Greece

    Andreas D. Katsambas

  3. Department of Dermatology, University of Pennsylvania, Philadelphia, Pennsylvania, USA

    Albert M. Kligman

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Chen, W.C., Yang, CC., Zouboulis, C.C. (2014). The Acne Genes. In: Zouboulis, C., Katsambas, A., Kligman, A. (eds) Pathogenesis and Treatment of Acne and Rosacea. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69375-8_47

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  • DOI: https://doi.org/10.1007/978-3-540-69375-8_47

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-69374-1

  • Online ISBN: 978-3-540-69375-8

  • eBook Packages: MedicineMedicine (R0)

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