Abstract
Hair disorders related to ageing, such as Âandrogenetic alopecia and hair graying, are controlled, at least in part, by genes. The aetiology of such disorders is complex, with many interacting genes likely to contribute to the risk. The action of these genes may also be influenced by the environment. At present, we know very little about these complex genetic risk profiles; for androgenetic alopecia, only one gene has been identified. This lack of understanding is a barrier to the translation of genetic research findings into patient care. However, as more genes are identified, genetic research has the potential to predict risk and take preventive action, to accurately diagnose hair conditions, to develop targeted treatment strategies and to apply personalised treatment strategies based on an individual’s underlying genetic make-up.
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References
Badano JL, Katsanis N (2002) Beyond Mendel: an evolving view of human genetic disease transmission. Nat Rev Genet 3:779–789
Bird CP, Stranger BE, Dermitzakis ET (2006) Functional variation and evolution of non-coding DNA. Curr Opin Genet Dev 16:559–564
Birney E, Stamatoyannopoulos JA, Dutta A et al (2007) Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 447:799–816
Cobb J, Busst C, Petrou S et al (2008) Searching for Âfunctional genetic variants in non-coding DNA. Clin Exp Pharmacol Physiol 35:372–375
Collins FS, Mansoura MK (2001) The human genome project. Revealing the shared inheritance of all humankind. Cancer 91:221–225
Davies JC, Alton EW, Bush A (2007) Cystic fibrosis. BMJ 335:1255–1259
Ellis JA, Sinclair RD (2008) Male pattern baldness: current treatments, future prospects. Drug Discov Today 13: 791–797
Ellis JA, Stebbing M, Harrap SB (1998) Genetic analysis of male pattern baldness and the 5alpha-reductase genes. J Invest Dermatol 110:849–853
Ellis JA, Stebbing M, Harrap SB (2001) Male pattern baldness is not associated with established cardiovascular risk factors in the general population. Clin Sci (Lond) 100: 401–404
Ellis JA, Stebbing M, Harrap SB (2001) Polymorphism of the androgen receptor gene is associated with male pattern baldness. J Invest Dermatol 116:452–455
Ellis JA, Scurrah KJ, Duncan AE et al (2007) Comprehensive multi-stage linkage analyses identify a locus for adult height on chromosome 3p in a healthy Caucasian population. Hum Genet 121:213–222
Ellis JA, Scurrah KJ, Cobb JE et al (2007) Baldness and the androgen receptor: the AR polyglycine repeat polymorphism does not confer susceptibility to androgenetic alopecia. Hum Genet 121:451–457
Fraga MF, Ballestar E, Paz MF et al (2005) Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci USA 102:10604–10609
Fraser P, Bickmore W (2007) Nuclear organization of the genome and the potential for gene regulation. Nature 447: 413–417
Hayes VM, Severi G, Eggleton SA et al (2005) The E211 G>A androgen receptor polymorphism is associated with a decreased risk of metastatic prostate cancer and androgenetic alopecia. Cancer Epidemiol Biomarkers Prev 14: 993–996
Hillmer AM, Hanneken S, Ritzmann S et al (2005) Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia. Am J Hum Genet 77:140–148
Jirtle RL, Skinner MK (2007) Environmental epigenomics and disease susceptibility. Nat Rev Genet 8:253–262
Kajiwara K, Berson EL, Dryja TP (1994) Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 264:1604–1608
Kleinjan DA, van Heyningen V (2005) Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet 76:8–32
Kuster W, Happle R (1984) The inheritance of common baldness: two B or not two B? J Am Acad Dermatol 11: 921–926
Levy-Nissenbaum E, Bar-Natan M, Frydman M et al (2005) Confirmation of the association between male pattern baldness and the androgen receptor gene. Eur J Dermatol 15: 339–340
Lower KM, Kumar R, Woollatt E et al (2004) Partial androgen insensitivity syndrome and t(X;5): are there upstream regulatory elements of the androgen receptor gene? Horm Res 62:208–214
Matsumoto T, Shiina H, Kawano H et al (2008) Androgen receptor functions in male and female physiology. J Steroid Biochem Mol Biol 109:236–241
McCarthy MI, Abecasis GR, Cardon LR et al (2008) Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 9: 356–369
Nebert DW, Zhang G, Vesell ES (2008) From human genetics and genomics to pharmacogenetics and pharmacogenomics: past lessons, future directions. Drug Metab Rev 40: 187–224
Nyholt DR, Gillespie NA, Heath AC et al (2003) Genetic basis of male pattern baldness. J Invest Dermatol 121: 1561–1564
Olsen EA, Messenger AG, Shapiro J et al (2005) Evaluation and treatment of male and female pattern hair loss. J Am Acad Dermatol 52:301–311
Prodi DA, Pirastu N, Maninchedda G et al (2008) EDA2R is associated with androgenetic alopecia. J Invest Dermatol 128:2268–2270
Roses AD (2004) Pharmacogenetics and drug development: the path to safer and more effective drugs. Nat Rev Genet 5: 645–656
Silventoinen K (2003) Determinants of variation in adult body height. J Biosoc Sci 35:263–285
Slominski A, Wortsman J, Plonka PM et al (2005) Hair follicle pigmentation. J Invest Dermatol 124:13–21
Stein LD (2004) Human genome: end of the beginning. Nature 431:915–916
Suzuki MM, Bird A (2008) DNA methylation landscapes: provocative insights from epigenomics. Nat Rev Genet 9: 465–476
The International HapMap Consortium (2003) The InterÂnational HapMap Project. Nature 426:789–796
Visscher PM (2008) Sizing up human height variation. Nat Genet 40:489–490
Yang R, Li WW, Hoang BH et al (2008) Quantitative correlation between promoter methylation and messenger RNA levels of the reduced folate carrier. BMC Cancer 8:124
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Ellis, J.A. (2010). Future Directions: Gene Polymorphism Diagnostics Relevant to Hair. In: Trüeb, R., Tobin, D. (eds) Aging Hair. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-02636-2_21
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DOI: https://doi.org/10.1007/978-3-642-02636-2_21
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