Genetic factors affecting skin health
https://doi.org/10.25789/YMJ.2024.88.26
Abstract
Skin is the largest organ in the human body, performing a barrier function to maintain homeostasis of the body. Skin aging is a complex process influenced by hereditary and environmental factors. Properties such as hydration, elasticity and antioxidant capacity play a key role in the skin aging process. Genetic variations can affect the production of collagen and elastin, the level of antioxidants and the integrity of the barrier function of the skin. Identification of genetic markers that affect skin condition will allow us to develop recommendations for correcting signs of aging, and may also become an effective and affordable method for treating many skin diseases in the future. This review summarizes and presents current data on genetic factors and molecular mechanisms affecting the health and appearance of the skin.
References
1. Kruglova L.S., Ikonnikova E.V. Skin hyperpigmentation: modern views on etiology and pathogenesis (part 1) // Russian Journal of Skin and Venereal Diseases. 2017; 20(3): 178-183. DOI: http://dx.doi.org/:10.18821/1560-9588-2017-20-3-178-183
2. Modern view on pathogenetic mechanisms of age-related skin changes / Potekaev N.N., Borzykh O.B., Karpova E.I., Petrova M.M., Schneider N.A., Demina O.M., Zatolokina M.A. // Medical Bulletin of the North Caucasus, vol. 18, no. 1, 2023, pp. 98-104.
3. 24-hour rhythm of aquaporin-3 function in the epidermis is regulated by molecular clocks / Matsunaga N, Itcho K, Hamamura K, Ikeda E, Ikeyama H, Furuichi Y, Watanabe M, Koyanagi S, Ohdo S. // J Invest Dermatol. 2014;134(6):1636- 1644. doi: 10.1038/jid.2014.13
4. A Genome-Wide Association Study in Caucasian Women Points Out a Putative Role of the STXBP5L Gene in Facial Photoaging / Clerc S.Le, Taing L., Ezzedine Kh., Latreille J., Delaneau O., Labib T., Coulonges C., Bernard A., Melak S., Carpentier W., Malvy D., Jdid R., Galan P., Hercberg S., Morizot F., Guinot Ch., Tschachler E., Zagury J.F. // Journal of Investigative Dermatology. 2013; 4(133): 929 – 935
5. Bollag WB, Aitkens L, White J, Hyndman KA. Aquaporin-3 in the epidermis: more than skin deep. American Journal of physiology. Cell Physiology. 2020;318(6):C1144-C1153. DOI: 10.1152/ajpcell.00075.2020.
6. Tricarico, P.M.; Mentino, D.; De Marco, A.; Del Vecchio, C.; Garra, S.; Cazzato, G.; Foti, C.; Crovella, S.; Calamita, G. Aquaporins Are One of the Critical Factors in the Disruption of the Skin Barrier in Inflammatory Skin Diseases. Int. J. Mol. Sci. 2022;23:4020. https://doi.org/10.3390/ijms23074020
7. Lepetsos P, Pampanos A, Kanavakis E, Tzetis M, Korres D, Papavassiliou AG, Efstathopoulos N. Association of MMP-1 -1607 1G/2G (rs1799750) polymorphism with primary knee osteoarthritis in the Greek population. J Orthop Res. 2014;32(9):1155-60. doi: 10.1002/jor.22647.
8. Bilac C., Sahin M.T., Ozturkcan S. Chronic actinic damage of facial skin // Clin Dermatol. 2014; 6 (32): pp. 752-762. https://doi.org/10.1016/j.clindermatol.2014.02.014
9. Bocheva G, Slominski RM, Slominski AT. Neuroendocrine Aspects of Skin Aging // Int J Mol Sci. 2019;20(11):2798. doi: 10.3390/ijms20112798.
10. Kasielska-Trojan A, Pietrusiński M, Borowiec M, Antoszewski B.Collagen type III and elastin genes polymorphism and the risk of nonsyndromic striae. J Cosmet Dermatol. 2019;18(1):342- 345. doi: 10.1111/jocd.12522
11. Mireles-Canales M. P., González-Chávez S. A., Quiñonez-Flores C.M., León-López E. A., Pacheco-Tena C. DNA Damage and Deficiencies in the Mechanisms of Its Repair: Implications in the Pathogenesis of Systemic Lupus Erythematosus. Journal of Immunology Research. 2018; 8214379:18. https://doi.org/10.1155/2018/8214379
12. Egawa G., Kabashima K. Multifactorial skin barrier deficiency and atopic dermatitis: Essential topics to prevent the atopic march // Journal of Allergy and Clinical Immunology. 2016; 2(138):350-358.е1. https://doi.org/10.1016/j.jaci.2016.06.002
13. Zargaran D, Zoller F, Zargaran A, Weyrich T, Mosahebi A. Facial skin ageing: Key concepts and overview of processes. Int J Cosmet Sci. 2022;44(4):414-420. doi: 10.1111/ics.12779
14. Fieder M, Huber S. Facial attractiveness is only weakly linked to genome-wide heterozygosity // Front Psychol. 2023;14:1009962. doi: 10.3389/fpsyg.2023.1009962.
15. Alakloby, O., Almuqarrab, F., Zschocke, J., Schmuth M., Abdulkareem A., Alnutaifi Kh., Borgio F., Gruber R., Hennies H.Ch. Filaggrin gene variants among Saudi patients with ichthyosis vulgaris. BMC Med Genomics. 2023;16(256):1442 https://doi.org/10.1186/s12920-023-01700-x
16. Sandilands A., Smith F. J.D., Irvine A.D., McLean W.H.I. Filaggrin's Fuller Figure: A Glimpse into the Genetic Architecture of Atopic Dermatitis. Journal of Investigative Dermatology. 2007; 6 (127):1282 – 1284. DOI:10.1038/sj.jid.5700876
17. Elfakir A., Ezzedine K., Latreille J., Ambroisine L., Jdid R., Galan P., Hercberg S., Gruber F., Malvy D., Tschachler E., Guinot C. Functional MC1R-Gene Variants Are Associated with Increased Risk for Severe Photoaging of Facial Skin. Journal of Investigative Dermatology. 2010; 4(130):1107 – 1115 DOI: 10.1038/jid.2009.366.
18. Nehring P, Gromadzka G, Jastrzębski M, Przybyłkowski A. Genetic Variants in Matrix Metalloproteinases MMP3 (rs3025058) and MMP9 (rs3918242) Associated with Colonic Diverticulosis. Medicina (Kaunas). 2023;59(11):2031. doi: 10.3390/medicina59112031.
19. Sepetiene R, Patamsyte V, Valiukevicius P, Gecyte E, Skipskis V, Gecys D, Stanioniene Z, Barakauskas S. Genetical Signature-An Example of a Personalized Skin Aging Investigation with Possible Implementation in Clinical Practice. J Pers Med. 2023;13(9):1305. doi: 10.3390/jpm13091305
20. Katsarou M.S., Giakoumaki M., Papadimitriou A., Demertzis N., Androutsopoulos V., Drakoulis N. Genetically driven antioxidant capacity in a Caucasian Southeastern European population. Mechanisms of Ageing and Development. 2018;172:1-5, https://doi.org/10.1016/j.mad.2017.08.010.
21. Tung JY, Kiefer AK, Mullins M, Francke U, Eriksson N. Genome-wide association analysis implicates elastic microfibrils in the development of nonsyndromic striae distensae. J Invest Dermatol. 2013;133(11):2628-2631. doi: 10.1038/jid.2013.196.
22. Martinez E, Palhan VB, Tjernberg A, Lymar ES, Gamper AM, Kundu TK, Chait BT, Roeder RG. Human STAGA complex is a chromatin-acetylating transcription coactivator that interacts with pre-mRNA splicing and DNA damage-binding factors in vivo. Mol Cell Biol. 2001 Oct;21(20):6782- 95. doi: 10.1128/MCB.21.20.6782-6795.2001.
23. Rahmouni M, Laville V, Spadoni JL, Jdid R, Eckhart L, Gruber F, Labib T, Coulonges C, Carpentier W, Latreille J, Morizot F, Tschachler E, Ezzedine K, Le Clerc S, Zagury JF.Identification of New Biological Pathways Involved in Skin Aging From the Analysis of French Women Genome-Wide Data. Front Genet. 2022;13:836581. doi:
24. Leźnicka K, Żyżniewska-Banaszak E, Gębska M, Machoy-Mokrzyńska A, Krajewska-Pędzik A, Maciejewska-Skrendo A, Leońska-Duniec A. Interactions between Gene Variants within the COL1A1 and COL5A1 Genes and Musculoskeletal Injuries in Physically Active Caucasian. Genes (Basel). 2021;12(7):1056. doi: 10.3390/genes12071056.
25. Kabashima K. New concept of the pathogenesis of atopic dermatitis: Interplay among the barrier, allergy, and pruritus as a trinity. Journal of Dermatological Science. 2013;1(70):3-11.https://doi.org/10.1016/j.jdermsci.2013.02.001.
26. Makrantonaki E, Bekou V, Zouboulis CC. Genetics and skin aging. Dermatoendocrinol. 2012;4(3):280-4. doi: 10.4161/derm.22372.
27. Markiewicz E, Idowu OC. Evaluation of Personalized Skincare Through in-silico Gene Interactive Networks and Cellular Responses to UVR and Oxidative Stress. Clin Cosmet Investig Dermatol. 2022;15:2221-2243. doi: 10.2147/ CCID.S383790.
28. Chelakkot, V.S., Thomas, K., Romigh, T., Fong A., Li L., Ronen Sh., Chen Sh., Funchain P., Ni Y., Arbesman J. MC1R signaling through the cAMP-CREB/ATF-1 and ERK-NFκB pathways accelerates G1/S transition promoting breast cancer progression. npj Precis. Onc. 2023; 7(85). https://doi.org/10.1038/s41698-023-00437-1.
29. Bastiaens M.T., ter Huurne J.A., Kielich C., Gruis N.A., Westendorp R.G., Vermeer B.J., Bavinck J. N. B. Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair. Am J Hum Genet. 2001;68:884-894 https://doi.org/10.1086/319500.
30. Healy E., Flannagan N., Ray A., Todda C, Jackson I. J., Matthews J.N.S., Birch-Machin M. A, Rees J.L. Melanocortin-1-receptor gene and sun sensitivity in individuals without red hair. The Lancet. 2000: 9209(355): 1072 – 1073
31. Vierkötter A, Schikowski T, Sugiri D, Matsui MS, Krämer U, Krutmann J.MMP-1 and -3 promoter variants are indicative of a common susceptibility for skin and lung aging: results from a cohort of elderly women (SALIA). J Invest Dermatol. 2015;135(5):1268-1274. doi: 10.1038/jid.2015.7.
32. Zhong Fangfang , Song Lijun , li Hao, Liu Jing, Liu Chunyan, Guo Qulian, Liu Wenjun. Multi-omics evaluation of the prognostic value and immune signature of FCN1 in pan-cancer and its relationship with proliferation and apoptosis in acute myeloid leukemia. Frontiers in Genetics. 2024; 15. DOI=10.3389/fgene.2024.1425075
33. Naval J, Alonso V, Herranz MA. Genetic polymorphisms and skin aging: the identification of population genotypic groups holds potential for personalized treatments // Clin Cosmet Investig Dermatol. 2014;7:207-14. doi: 10.2147/CCID. S55669.
34. Pavan WJ, Sturm RA. The Genetics of Human Skin and Hair Pigmentation // Annu Rev Genomics Hum Genet. 2019;20:41-72. doi: 10.1146/annurev-genom-083118-015230.
35. Perbal B, Gabaron S. Mastering health: liberating beauty: Will the cosmetics of tomorrow be genetic? // J Cell Commun Signal. 2021;15(4):483-490. doi: 10.1007/s12079-021-00656-w.
36. Praetorius C., Grill C., Stacey S.N., Metcalf A.M., Gorkin D.U., Robinson K.C., Van Otterloo E., Kim R.S.Q., Bergsteinsdottir K., Ogmundsdottir M.H., Magnusdottir E., Mishra P.J., Davis S.R., Guo T., Zaidi M.R., Helgason A.S. Polymorphism in IRF4 Affects Human Pigmentation through a Tyrosinase-Dependent MITF/TFAP2A Pathway
37. Churnosov M., Belyaeva T., Reshetnikov E., Dvornyk V., Ponomarenko I. Polymorphisms of the filaggrin gene are associated with atopic dermatitis in the Caucasian population of Central Russia. Gene. 2022;Vol.818:146219. https://doi.org/10.1016/j.gene.2022.146219
38. Pietrusiński M, Kasielska-Trojan A, Sitek A, Borowiec M, Antoszewski B. Selected genes polymorphisms and the risk of non-syndromic striae. A case-control study in the Polish population. J Eur Acad Dermatol Venereol. 2019;33(8):e286-e288. doi: 10.1111/jdv.15558.
39. Gong L, Luo M, Sun R, Qiu L, Chen C, Luo Z. Significant Association Between XRCC1 Expression and Its rs25487 Polymorphism and Radiotherapy-Related Cancer Prognosis. Front Oncol. 2021;11:654784. doi: 10.3389/fonc.2021.654784.
40. Ndiaye MA, Nihal M, Wood GS, Ahmad N. Skin, reactive oxygen species, and circadian clocks. Antioxid Redox Signal. 2014;20(18):2982- 96. doi: 10.1089/ars.2013.5645.
41. Gallegos-Arreola MP, Ramírez-Patiño R, Sánchez-López JY, Zúñiga-González GM, Figuera LE, Delgado-Saucedo JI, Gómez-Meda BC, Rosales-Reynoso MA, Puebla-Pérez AM, Lemus-Varela ML, Garibaldi-Ríos AF, Marín-Domínguez NA, Pacheco-Verduzco DP, Mohamed-Flores EA. SOD2 Gene Variants (rs4880 and rs5746136) and Their Association with Breast Cancer Risk. Curr Issues Mol Biol. 2022;44(11):5221-5233. doi: 10.3390/cimb44110355.
42. Calligaris, M.; Cuffaro, D.; Bonelli, S.; Spanò, D.P.; Rossello, A.; Nuti, E.; Scilabra, S.D. Strategies to Target ADAM17 in Disease: From Its Discovery to the iRhom Revolution. Molecules 2021, 26, 944. https://doi.org/10.3390/molecules26040944
43. Suppa M., Elliott F., Mikeljevic J.S., Mukasa Y., Chan M., Leake S., Karpavicius B., Haynes S., Bakker E., Peris K., Barrett J.H., Bishop D.T., Newton Bishop J.A.The determinants of periorbital skin ageing in participants of a melanoma case–control study in the U.K. British Journal of Dermatology. 2011; 5(165):1011–1021. https://doi.org/10.1111/j.1365-2133.2011.10536.x
44. Soerensen M, Christensen K, Stevnsner T, Christiansen L. The Mn-superoxide dismutase single nucleotide polymorphism rs4880 and the glutathione peroxidase 1 single nucleotide polymorphism rs1050450 are associated with aging and longevity in the oldest old. Mech Ageing Dev. 2009;130(5):308-14. doi: 10.1016/j.mad.2009.01.005.
45. Esmat S, Zeid OA, Abdel Halim DM, Fawzy MT, Abdel Latif M, Lazarova V, Assaf M. Tissue expression of aquaporin 3 in different sites of vitiligo: an immunohistochemical study. J Eur Acad Dermatol Venereol 2018;32:e455–e456, 10.1111/jdv.15049 Yu F, Zhao LX, Chu S. TCHH as a Novel Prognostic Biomarker for Patients with Gastric Cancer by Bioinformatics Analysis // Clin Exp Gastroenterol. 2024;17:61-74. doi: 10.2147/CEG. S451676.
Review
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Pavlova N.I. Genetic factors affecting skin health. Yakut Medical Journal. 2024;(4):111-114. (In Russ.) https://doi.org/10.25789/YMJ.2024.88.26
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