Role of polymorphism of the androgen receptor gene andnon-random x chromosome inactivation in the pathogenesisof androgenic alopecia
- Authors: Mareeva AN1
-
Affiliations:
- Issue: Vol 86, No 6 (2010)
- Pages: 130-134
- Section: Articles
- Submitted: 11.03.2020
- Published: 15.12.2010
- URL: https://vestnikdv.ru/jour/article/view/866
- DOI: https://doi.org/10.25208/vdv866
- ID: 866
Cite item
Full Text
Abstract
The article presents data on molecular and genetic studies of mechanisms of development of androgenic alopecia as well as
correlation between polymorphism of the androgen receptor gene by the CAG repeat length in exon 1 and androgen-dependent
diseases including alopecia.
correlation between polymorphism of the androgen receptor gene by the CAG repeat length in exon 1 and androgen-dependent
diseases including alopecia.
Keywords
References
- Машкиллейсон А.А. Алопеция. Лечение кожных болезней: Рук. для врачей. Под ред. А.Л. Машкиллейсона. М.: Медицина, 1990; 460-468.
- Sinclair R. Male pattern androgenetic alopecia. Br Med J 1998; 317: 865-9.
- Hoffmann R., Happle R. Current understanding of androgenetic alopecia. Part I: ethiopathogenesis. Eur J Dermatol 2000;10: 319-2.
- Nyholt D.R., Gillespie N.A., Heath A.C., Martin N.G. Genetic basis of male pattern baldness. J Invest Dermatol 2003; 121: 1561-4.
- Deplewski D., Rosenfield R.L. Role of hormones in pilosebaceous unit development. Endocr Rev 21: 363-392, 2000.
- Alonso L.C., Rosenfield R.L. Molecular genetic and endocrine mechanisms of hair growth. Horm Res 2003; 60: 1-13.
- Cash T.F., Price V.H., Savin R.C. Psychological effects of androgenetic alopecia on women: Comparisons with balding men and with female control subjects. J Am Acad Dermatol 1993, 29: 568-75.
- Inui S., Fukuzato Y., Nakajima T. et al. Identification of androgeninducible TGF-b1 derived from dermal papilla cells as key mediator in androgenetic alopecia. J Investig Dermatol Symp Proc 2003; 8: 69-71.
- Inaba M., McKinstry C.T., Ezaki T. The process of replacement of vellus hairs by coarse hairs. J Dermatol Surg Oncol 1981; 7: 732-6.
- Ellis J.A., Sinclair R., Harrap S.B. Androgenetic alopecia: pathogenesis and potential for therapy. Expert Rev Mol Med 2002; 2002: 1-11.
- Ellis J.A., Stebbing M., Harrap S.B. Genetic analysis of the male pattern baldness and the 5alpha-reductase genes. J Invest Dermatol 1998; 110: 849-53.
- Price V.H. Androgenetic alopecia in women. J Investig Dermatol Symp Proc 2003; 8: 24-27.
- Yip L., Zaloumis S., Irwin D., Severi G., Hopper J., Giles G., Harrap S., Sinclair R., Ellis J. Gene-wide association study between the aromatase gene (CYP19A1) and female pattern hair loss. Br J Dermatol 2009; 161 (2): 289-94.
- Hillmer A.M., Flaquer A., Hanneken S., Eigelshoven S., Kortüm A.K., Brockschmidt F.F., Golla A., Metzen C., Thiele H., Kolberg S., Reinartz R., Betz R.C., Ruzicka T., Hennies H.C., Kruse R., Nöthen M.M. Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26. Am J Hum Genet 2008; 82 (3): 737-43.
- Еllis J.A., Harrap S.B. The genetics of androgenetic alopecia. Clin Dermatol 2001; 19: 149-54.
- Tosti A., Piraccini B.M., Iorizzo M., Voudouris S. The natural history of androgenetic alopecia. J Cosmet Dermatol 2005; Jan; 4 (1): 41-3.
- Hillmer A.M., Hanneken S., Ritzmann S. et al. Genetic variation in the human androgen receptor gene is the major determinant of earlyonset androgenetic alopecia. Am J Hum Genet 2005; 77: 140-8.
- Hayes V.M., Severi G., Eggleton S.A. et al. The E211 G > A androgen receptor polymorphism is associated with a decreased risk of metastatic prostate cancer and androgenetic alopecia. Cancer Epidemiol Biomarkers Prev 2005; 14: 993-6.
- el-Samahy M.H., Shaheen M.A., Saddik D.E., Abdel-Fattah N.S., el-Sawi M.A., Mahran M.Z., Shehab A.A. Evaluation of androgen receptor gene as a candidate gene in female androgenetic alopecia. Int J Dermatol 2009; Jun; 48 (6): 584-7.
- Lubahn D.B., Joseph D.R., Sullivan P.M., Willard H.F., French F.S., Wilson E.M. Cloning of human androgen receptor complementary DNA and localization to the X chromosome. Science 1988; 240: 327-330.
- Brown C.J., Goss S.J., Lubahn D.B., Joseph D.R., Wilson E.M., French F.S., Willard H.F. Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism. Am J Hum Genet 1989; 44: 264-269.
- Chang C., Kokontis J., Liao S. Molecular-cloning of human and rat complementary-DNA encoding androgen receptors. Science 1988; 240: 324-326.
- Edwards A., Hammond H.A., Jin L., Caskey C.T., Chakraborty R. Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics 1992; 12: 241-253.
- Rajender S., Singh L., Thangaraj K. Phenotypic heterogeneity of mutations in androgen receptor gene. Asian J Androl 2007; 9: 147-179.
- Chamberlain N.L., Driver E.D., Miesfeld R.L. The length and location of the CAG trinucleotide repeats in the androgen receptor Nterminal domain affect transactivation function. Nucleic Acids Res 1994; 22: 3181-6.
- Choong C.S., Kemppainen J.A., Zhou Z.X., Wilson E.M. Reduced androgen receptor gene expression with first exon CAG repeat expansion. Mol Endocrinol 1996; 10: 1527-35.
- Gao T., Marcelli M., McPhaul M.J. Transcriptional activation and transient expression of the human androgen receptor. J Steriod Biochem Mol Biol 1996; 59: 9-20.
- Ding D., Xu L., Menon M., Veer Reddy G.P., Barrack E.R. Effect of short CAG (Glutamine) repeat on human androgen receptor function. Prostate 2004; 58: 23-32.
- Ding D., Xu L., Menon M., Veer Reddy G.P., Barrack E.R. Effect of GGC (Glycine) repeat length polymorphism in the human androgen receptor on androgen action. Prostate 2004; 9999: 1-7.
- Mhatre A.N., Trifiro M.A., Kaufman M. et al. Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy. Nat Genet 1993; 5: 184-188.
- Tut T.G., Ghadessy F.J., Trifiro M.A., Pinsky L., Yong E.L. Long polyglutamine tracts in the androgen receptor are associated with reduced trans-activation, impared sperm production, and male infertility. J Clin Endocrinol Metab 1997; 82: 3777-3782.
- Mifsud A., Ramirez S., Yong E.L. Androgen receptor gene CAG trinucleotide repeats in anovulatory infertility and polycystic ovaries. J Clin Endocrinol Metab 2000; 85: 3484-3488.
- Westberg L., Baghaei F., Rosmond R., Hellstrand M., Landén M., Jansson M., Holm G., Bjorntorp P., Eriksson E. Polymorphisms of the androgen receptor gene and the estrogen receptor ß gene are associated with androgen levels in women. J Clin Endocrinol Metab 2001; 86: 2562-2568.
- Hickey T., Chandy A., Norman R.J. The androgen receptor CAG repeat polymorphism and X-chromosome inactivation in Australian Caucasian women with infertility related to polycystic ovary syndrome. J Clin Endocrinol Metab 2002; 87: 161-165.
- Shibata A., Stamey T.A., McNeal J.E., Cheng I., Peehl D.M. Genetic polymorphisms in the androgen receptor and type II 5α-reductase genes in prostate enlargement. J Urol 2001; 166: 1560-1564.
- Giovannucci E., Stampfer M.J., Krithivas K., Brown M., Dahl D., Brufsky A., Talcott J., Hennekens C.H., Kantoff P.W. The CAG repeat within the androgen receptor gene and its relationships to prostate cancer. Proc Natl Acad Sci USA 1997; 94: 3320-3323.
- Zitzmann M., Brune M., Kornmann B., Gromoll J., Junker R., Nieschlag E. The CAG repeat polymorphism in the androgen receptor gene affects bone density and bone metabolism in healthy males. Clin Endocrinol (Oxf) 2001; 55: 649-657.
- Ellis J.A., Stebbing M., Harrap S.B. Polymorphism of the androgen receptor gene is associated with male pattern baldness. J Invest Dermatol 2001; 116: 452-455.
- Krithivas K., Yurgalevitch S.M., Mohr B.A., Wilcox C.J., Batter S.J., Brown M., Longcope C., McKinlay J.B., Kantoff P.W. Evidence that the CAG repeat in the androgen receptor gene is associated with the age-related decline in serum androgen levels in men. J Endocrinol 1999; 162: 137-142.
- Lim H.N., Chen H., McBride S., Dunninng A.M., Nixon R.M., Hughes I.A., Hawkins J.R. Longer polyglutamine tracts in the androgen receptor are associated with moderate to severe undermasculinized genitalia in XY males. Hum Mol Genet 2000; 9: 829-834.
- Dejager S., Bry-Gauillard H., Bruckert E., Eymard B., Salachas F., LeGuern E., Tardieu S., Chadarevian R., Giral P., Turpin G. A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length. J Clin Endocrinol Metab 2002; 87: 3893-3901.
- Buchanan G., Yang M., Cheong A., Harris J.M., Irvine R.A., Lambert P.F., Moore N.L., Raynor M., Neufing P.J., Coetzee G.A. et al. Structural and functional consequences of glutamine tract variation in the androgen receptor. Hum Mol Genet 2004; 13: 1677-1692.
- Irvine R.A., Ma H., Yu M.C., Ross R.K., Stallcup M.R., Coetzee G.A. Inhibition of p160-mediated coactivation with increasing androgen receptor polyglutamine length. Hum Mol Genet 2000; 9: 267-274.
- MacLean H.E., Choi W.T., Rekaris G. et al. Abnormal androgen receptor binding affinity in subjects with Kennedy's disease (spinal and bulbar muscular atrophy). J Clin Endocrinol Metab 1995; 80: 508-16.
- Hsiao P.W., Chang C. Isolation and characterization of ARA160 as the first androgen receptor N-terminal-associated coactivator in human prostate cells. J Biol Chem 1999; 274: 22373-22379.
- Crabbe P., Bogaert V., De Bacquer D., Goemaere S., Zmierczak H., Kaufman J.M. Part of the interindividual variation in serum testosterone levels in healthy men reflects differences in androgen sensitivity and feedback setpoint: contribution of the androgen receptor polyglutamine tract polymorphism. J Clin Endocrinol Metab 2007; 92: 3604-3610.
- Walsh S., Zmuda J.M., Cauley J.A., Shea P.R., Metter E.J., Hurley B.F., Ferrell R.E., Roth S.M. Androgen receptor CAG repeat polymorphism is associated with fat-free mass in men. J Appl Physiol 2005; 98: 132-137.
- Van Pottelbergh I., Lumbroso S., Goemaere S., Sultan C., Kaufman J.M. Lack of influence of the androgen receptor gene CAG-repeat polymorphism on sex steroid status and bone metabolism in elderly men. Clin Endocrinol (Oxf) 2001; 55: 659-666.
- Alevizaki M., Cimponeriu A.T., Garofallaki M., Sarika H.L., Alevizaki C.C., Papamichael C., Philippou G., Anastasiou E.A., Lekakis J.P., Mavrikakis M. The androgen receptor gene CAG polymorphism is associated with the severity of coronary artery disease in men. Clin Endocrinol (Oxf) 2003; 59: 749-755.
- Kim J.J., Choung S.H., Choi Y.M., Yoon S.H., Kim S.H., Moon S.Y. Androgen receptor gene CAG repeat polymorphism in women with polycystic ovary syndrome. Fertil Steril 2008; 90 (6): 2318-23.
- Xita N., Georgiou I., Lazaros L., Psofaki V., Kolios G., Tsatsoulis A. The role of sex hormone-binding globulin and androgen receptor gene variants in the development of polycystic ovary syndrome. Hum Reprod 2008; 23: 693-698.
- Van Nieuwerburgh F., Stoop D., Cabri P., Dhont M., Deforce D.,De Sutter P. Shorter CAG repeats in the androgen receptor gene may enhance hyperandrogenicity in polycystic ovary syndrome. Gynecol Endocrinol 2008; Dec; 24 (12): 669-73.
- Sawaya M.E., Shalita A.R. Androgen receptor polymorphisms (CAG repeat lengths) in androgenetic alopecia, hirsutism, and acne. J Cutan Med Surg 1998; 3: 9-15.
- Sinclair R. Rodney, Greenland K.J., Egmond S. van, Hoedemaker C., Chapman A., Zajac J.D. Men with Kennedy disease have a reduced risk of androgenetic alopecia. British Journal of Dermatology 2007; 157; 2: 290-294.
- Wakisaka N., Taira Y., Ishikawa M. et al. Effectiveness of finasteride on patients with male pattern baldness who have different androgen receptor gene polymorphism. J Investig Dermatol Symp Proc 2005; 10: 293-4.
- Lyon M. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 1961; 22: 372-373.
- Sato К., Uehara S., Hashiyada М. et al. Genetic significance of skewed X-chromosome inactivation in premature ovarian failure. Am J Med Genetics 2004.
- Lanasa M., Hogge W., Hoffman E. The X chromosome and recurrent spontaneous abortions: The significance of transmanifesting carriers. Am J Hum Genet 1999; 64: 934-8.
- Uehara S., Tamura M., Nate M. et al. X-chromosome inactivation in the human trophoblast of early pregnancy. J Hum Genet 2000; 45: 119-26.
- Uehara S., Sato K., Hashiyada M. et al. Xchromosome inactivation patterns in 45,X/46,XX mosaics. J Hum Genet 2001; 46: 126-31.
- Heard E., Clerc P., Avner P. X-chromosome inactivation in mammals. Ann RevGenet 1997; 31: 571-610.
- Sirianni N., Pereira J., Pillotto R., Hoffinan E.P. Rett syndrome: Confirmation of X-linked dominant inheritance, and localization of the gene to Xq28. Am J Hum Genet 1998; 63: 1552-8.
- Lappalainen S., Utriainen P., Kuulasmaa T. et al. Androgen Receptor Gene CAG Repeat Polymorphism and X-Chromosome Inactivation in Children with Premature Adrenarche. The Journal of Clinical Endocrinology & Metabolism 2008; 93; 4: 1304-1309.
- Vottero A., Stratakis C.A., Ghizzoni L., Longui C.A., Karl M., Chrousos G.P. Androgen receptor-mediated hypersensitivity to androgens in women with nonhyperandrogenic hirsutism: skewing of X-chromosome inactivation. J Clin Endocrinol Metab 1999; 84: 1091-1095.
- Brum I.S., Spritzer P.M., Paris F., Maturana M.A., Audran F., Sultan C. Association between androgen receptor gene CAG repeat polymorphism and plasma testosterone levels in postmenopausal women. J Soc Gynecol Investig 2005; Feb; 12 (2): 135-4.
- Allen R.C., Zoghbi H.Y., Moseley A.B., Rosenblatt H.M., Belmont J.W. Methylation of Hpall and Hhal sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am. J. Hum. Genet 1992; 51; 1229-1239.
- Villard L., Kpebe A., Cardoso C., Chelly J., Tardieu M., Fontes M. Two affected boys in a Rett syndrome family: clinical and molecular findings. Neurology 2000; 55; 1188-1193.
- Villard L., Levy N., Xiang F., Kpebe A., Labelle V., Chevillard C., Zhang Z., Shwartz C.E., Tardieau M., Chelly J., Anvert M., Fontes
- M. Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implication for the disease. J. Med. Genet 2001; 38; 435-442.
- Plenge R.M., Stevenson R.A., Lubs H.A., Schwartz C.E., Willard H.F. Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders. Am. J. Hum. Genet 2002; 71; 168-173.
- Jaaskelainen J., Korhonen S., Voutilainen R., Hippelainen M., Heinonen S. Androgen receptor gene CAG length polymorphism in women with polycystic ovary syndrome. Fertil Steril 2005; 83: 1724-1728.
- Legro R.S., Shahbahrami B., Lobo R.A., Kovacs B.W. Size polymorphisms of the androgen receptor among female Hispanics and correlation with androgenic characteristics. Obstet Gynecol 1994; 83: 701-706.
- Mohlig M., Jurgens A., Spranger J., Hoffmann K., Weickert M.O., Schlosser H.W., Schill T., Brabant G., Schuring A., Pfeiffer A.F. et al. The androgen receptor CAG repeat modifies the impact of testosterone on insulin resistance in women with polycystic ovary syndrome. Eur J Endocrinol 2006; 155: 127-130.