Evaluation of the association between delayed skeletal maturation and a single nucleotide polymorphim in the gene encoding estrogen receptor alpha
Resumo
Background: Cervical vertebrae are important biological indicators of child and adolescent developmental stages. Single nucleotide polymorphism (SNP) can unbalance the functions of important hormones that can consequently impact the individual's skeletal maturation. Objective: To evaluate the association between delayed skeletal maturation (DSM) and a SNP in the gene encoding estrogen receptor alpha (ESR1) in girls. Methods: This cross-sectional study screened 74 girls with age ranging from 10 to 11 years undergoing to orthodontic treatment. Girls with systemic disease or syndrome were excluded. Skeletal maturation analysis was performed using the method by Baccetti et al. (2005). Girls who were at CS3 and CS4 stages were considered controls and girls who were at earlier stages were considered with delayed in skeletal maturation (DSM). Genomic DNA was used to evaluate the SNP PvuII/rs2234693 in ESR1 using Real-Time PCR. Fisher's test was applied to compare alleles between groups. Results: Twenty-eight girls were finally included in the analysis. There was no association between DSM and PvuII (rs2234693) (p=0.404). Conclusion: DSM was not associated with the SNP PvuII (rs2234693) in ESR1 in girls.
Texto completo:
PDF (English)Referências
AKILZHANOVA, A.; ABILOVA, Z.; AITKULOVA, A.; ZHUMATOVA, Z.; AKILZHANOVA, G.; ZHOLDYBAYEVA, E.; MOMYNALIEV, K. Estrogen receptor gene (ESR1) PVUII and XBAI polymorphisms and bone mineral density in kazakh women. Cent Asian J Glob Health, v. 24, p. 100, 2014.
ALMEIDA, M.; LAURENT, M. R.; DUBOIS, V.; CLAESSENS, F.; O'BRIEN, C. A.; BOUILLON, R.; VANDERSCHUEREN, D.; MANOLAGAS, S. C. Estrogens and androgens in skeletal physiology and pathophysiology. Physiol Rev, v. 97, p. 135-187, 2017.
BACCETTI, T.; FRANCHI, L.; MCNAMARA JR, J. A. The Cervical Vertebral Maturation (CVM) method for the assessment of optimal treatment timing in dentofacial orthopedics. Semin Orthod, v. 11, p. 119-129, 2005.
BINDER, N. B.; NIEDERREITER, B.; HOFFMANN, O.; STANGE, R.; PAP, T.; STULNIG, T. M.; MACK, M.; ERBEN, R. G.; SMOLEN, J. S.; REDLICH, K. Estrogen-dependent and CC chemokine receptor-2–dependent pathways determine osteoclast behavior in osteoporosis. Nat Med, v.15, p. 417-424, 2009.
BJÖRK, A.; HELM, S. Prediction of the age of maximum pubertal growth in body height. Angle Orthod, v.37, p. 134-143, 1967.
CARELLI, J.; MADALENA, I. R.; MATTOS, C.; MORAES, N. D.; LOPES, C. M. C. F.; SCARIOT, R.; BRANCHER, J. A.; KÜCHLER, E. C.; MORO, A. Correlation between skeletal and dental maturity methods in Brazilian children. RSBO, v.17, p. 162-171, 2020.
CARELLI, J.; MATTOS, C.; MORAIS, N. D.; SCARIOT, R.; BRANCHER, J. A.; BARATTO-FILHO, F.; KÜCHLER, E. C.; MORO, A. Correlation between insulin-like growth factor I and skeletal maturity indicators. Glob Pediatr Health, v. 8, p. 2333794X211011305, 2021.
CERICATO, G. O.; BITTENCOURT, M. A. V.; PARANHOS, L. R. Validity of the assessment method of skeletal maturation by cervical vertebrae: a systematic review and meta-analysis. Dentomaxillofac Radiol, v. 44, p. 20140270, 2015.
CHRIST, J. P.; GUNNING, M. N.; PALLA, G.; EIJKEMANS, M. J. C.; LAMBALK, C. B.; LAVEN, J. S. E.; FAUSER, B. C. J. M. Estrogen deprivation and cardiovascular disease risk in primary ovarian insufficiency. Fertil Steril, v. 109, p. 594-600, 2018.
ERHAMZA, T. S.; KILICASLAN, Y.; UNVER, F. N. Effect of body mass index percentile on skeletal maturation of cervical vertebrae and hand-wrist and dental maturation. Acta Odontol Scand, v. 78, p. 236-240, 2020.
FARIAS-CISNEROS, E.; HIDALGO-BRAVO, A.; MIRANDA-DUARTE, A.; CASAS-ÁVILA, L.; ROZENTAL, T. D.; VELÁZQUEZ-CRUZ, R.; VALDÉS-FLORES, M. COL1A1, CCDC170, and ESR1 single nucleotide polymorphisms associated with distal radius fracture in postmenopausal Mexican women. Climacteric, v. 23, p.65-74, 2020.
FLORES-MIR, C.; NEBBE, B.; MAJOR, P. W. Use of skeletal maturation based on hand-wrist radiographic analysis as a predictor of facial growth: a systematic review. Angle Orthod, v. 74, p. 118-124, 2014.
FORLINO, A.; MARINI, J. C. Osteogenesis imperfecta. Lancet, v. 387, p. 1657-1671, 2016.
GHALEB, H.; AKL, R.; KHOURY, E.; GHOUBRIL, J. Estimation and comparison of the duration of the pubertal peak in skeletal class II and class I subjects using the cervical vertebrae maturation Index Method. J Contemp Dent Pract, v. 20, p. 1095-1101, 2019.
GRAVHOLT, C. H.; ANDERSEN, N. H.; CONWAY, G. S.; DEKKERS, O. M.; GEFFNER, M. E.; KLEIN, K. O.; LIN A. E.; MAURAS, N.; QUIGLEY, C. A.; RUBIN K.; SANDBERG, D. E.; SAS, T. C. J.; SILBERBACH, M.; SÖDERSTRÖM-ANTTILA V.; STOCHHOLM, K.; DERVELDEN, J. A. V. A.; WOELFLE, J.; BACKELJAUW, P. F.; INTERNATIONAL TURNER SYNDROME CONSENSUS GROUP . Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol, v. 117, p. G1-G70, 2017.
HAMILTON, K. J.; HEWITT, S. C.; ARAO, Y.; KORACH, K. S. Estrogen hormone biology. Curr Top Dev Biol, v. 125, p. 109-146, 2017.
INOUE, M.; MINAMI, S.; NAKATA, Y.; KITAHARA, H.; OTSUKA, Y.; ISOBE, K.; TAKASO, M.; TOKUNAGA, M.; NISHIKAWA, S.; MARUTA, T.; MORIYA, H. Association between estrogen receptor gene polymorphisms and curve severity of idiopathic scoliosis. Spine (Phila Pa 1976), v. 27, p. 2357-2362, 2002.
KANG, S. T.; CHOI, S. H.; KIM, K. H.; HWANG, C. J. Evaluation of cephalometric characteristics and skeletal maturation of the cervical vertebrae and hand-wrist in girls with central precocious puberty. Korean J Orthod, v. 50, p. 181-187, 2020.
KLÜNDER, M. K.; ESPINDOLA M. E.; GONZALEZ D. L.; LOYO, M. S. C.; SUÁREZ, P. D.; LORA, A. L. M. Skeletal maturation in the current pediatric mexican population. Endocr Pract, v. 26, p. 1053-1061, 2020.
KÜCHLER, E. C.; TANNURE, P. N.; LOTSCH, P. F.; LOPES T. S.; GRANJEIRO, J. M.; AMORIM, L. M. F. Buccal cells DNA extraction to obtain high quality human genomic DNA suitable for polymorphisms genotyping by PCR – RFLP and Real Time PCR. J App Oral Scienc, v. 20, p. 467-471, 2012.
KÜCHLER, E. C.; REIS, C. L. B.; CARELLI, J.; SCARIOT, R.; FILHO, P. N.; COLETTA, R. D.; PAZA, A. O.; MATSUMOTO, M.A.N.; PROFF, P.; KIRSCHNECK, C. Potential interactions among single nucleotide polymorphisms in bone- and cartilage-related genes in skeletal malocclusions. Orthod Craniofac Res, v. 24, p. 277-287, 2021.
MARAÑÓN-VÁSQUEZ, G. A. M.; VIEIRA, A. R.; RAMOS, A. G. C.; DANTAS, B.; ROMANO, F. L.; DIBB, R. G. P.; ARID, J.; CARPIO, K.; -NELSON-FILHO, P; ROSSI, A.; SCARIOT, R.; LEVY, S. C.; ANTUNES, L. A. A.; ANTUNES, L. S.; KÜCHLER E. C. GHR and IGF2R genes may contribute to normal variations in craniofacial dimensions: Insights from an admixed population. Am J Orthod Dentofacial Orthop, v. 158, p. 722-730, 2020.
MAROZIK, P.; ALEKNA, V.; RUDENKO, E.; TAMULAITIENE, M.; RUDENKA, A.; MASTAVICIUTE, A.; SAMOKHOVEC, V.; CERNOVAS, A.; KOBETS, K.; MOSSE, I. Bone metabolism genes variation and response to bisphosphonate treatment in women with postmenopausal osteoporosis. PLoS One, v. 14, p. e0221511, 2019.
MCNAMARA JR., J. A.; FRANCHI, L. The cervical vertebral maturation method: A user's guide. Angle Orthod, v. 88, p. 133-143, 2018.
NIELSEN R. Population genetic analysis of ascertained SNP data. Hum Genomics, v. 1, p. 218-224, 2004.
OMORI, M. A.; GERBER, J. T.; MARAÑÓN-VÁSQUEZ, G. A.; MATSUMOTO, M. A. N.; WEISS, S. G.; NASCIMENTO, M. A.; ARAÚJO, M. T. S.; STUANI, M. B. S.; NELSON-FILHO, P.; SCARIOT, R.; KÜCHLER, E. C. Possible association between craniofacial dimensions and genetic markers in ESR1 and ESR2. J Orthod, v. 47, p. 65-71, 2020.
PARENT, A. S.; TEILMANN, G.; JUUL, A.; SKAKKEBAEK, N. E.; TOPPARI, J.; BOURGUIGNON, J. P. The timing of normal puberty and the age limits of sexual precocity: variations around the world, secular trends, and changes after migration. Endocr Rev, v. 24, p. 668-693, 2003.
PATEL, S.; HOMAEI, A.; RAJU, A. B.; MEHER, B. R. Estrogen: The necessary evil for human health, and ways to tame it. Biomed Pharmacother, v. 102, p. 403-411, 2018.
SCALCO, R.; TRARBACH, E.; ALBUQUERQUE, E. V. A.; HOMMA, T. K.; INOUE-LIMA, T. H.; NISHI, M. Y.; MENDONCA, B. B.; JORGE, A. A. L. ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome. Endocr Connect, v. 8, p. 1513-1519, 2019.
SHERRY, S. T.; WARD, M.; SIROTKIN, K. dbSNP-database for single nucleotide polymorphisms and other classes of minor genetic variation. Genome Res, v. 9, p. 677-679, 1999.
SHU, J.; LI, J.; FU, Y.; HUI, X.; JIN, Y.; CHEN, M.; ZHENG, X.; SHI, Y. Association of ESR1 polymorphism rs2234693 and rs9340799 with postmenopausal osteoporosis in a Chinese population. BMC Musculoskelet Disord, v. 21, p. 346, 2020.
TANG, N. L. S.; YEUNG, H. Y.; LEE, K. M.; HUNG, V. W.; CHEUNG, C. S.; NG, B. K.; KWOK, R.; GUO, X.; QIN, L.; CHENG, J. C. A relook into the association of the estrogen receptor [alpha] gene (PvuII, XbaI) and adolescent idiopathic scoliosis: a study of 540 Chinese cases. Spine (Phila Pa 1976), v. 31, p. 2463-2468, 2006.
TEVES, M. E.; SUNDARESAN, G.; COHEN, D. J.; HYZY, S. L.; KAJAN, I.; MACZIS, M.; ZHANG, Z.; COSTANZO, R. M.; ZWEIT, J.; SCHWARTZ, Z.; BOYAN, B. D.; STRAUSS, J. F. Spag17 deficiency results in skeletal malformations and bone abnormalities. PLoS One, v. 10, p.e0125936, 2015.
THOMPSON, A. L. What is normal, healthy growth? Global health, human biology, and parental perspectives. Am J Hum Biol, v. 33, p.e23597, 2021.
WANG, Y.; YAN, M.; YU, Y.; WU, J.; YU, J.; FAN, Z. Estrogen deficiency inhibits the odonto/osteogenic differentiation of dental pulp stem cells via activation of the NF-κB pathway. Cell Tissue Res, v. 352, p. 551-559, 2013.
XU, F.; LI, W.; YANG, X.; NA, L.; CHEN, L.; LIU, G. The roles of epigenetics regulation in bone metabolism and osteoporosis. Front Cell Dev Biol, v. 8, p. 619301, 2021
YE, S. Polymorphisms in matrix metalloproteinase gene promoters: implication in regulation of gene expression and susceptibility of various diseases. Matrix Biol, v. 19, p. 650-653, 2000.
ZEMEL, B. S. Influence of complex childhood diseases on variation in growth and skeletal development. Am J Hum Biol, v. 29, p. 1-11, 2017.
ZHU, H.; JIANG, J.; WANG, Q.; ZONG, J.; ZANG, L.; MA, T.; XU, Y.; ZHANG, L. Associations between ERα/β gene polymorphisms and osteoporosis susceptibility and bone mineral density in postmenopausal women: a systematic review and meta-analysis. BMC Endocr Disord, v. 18, p. 11, 2018.
DOI: https://doi.org/10.18571/acbm.226
Apontamentos
- Não há apontamentos.
Direitos autorais 2023 Acta Biomedica Brasiliensia
Esta obra está licenciada sob uma licença Creative Commons Atribuição - Compartilhar igual 4.0 Internacional.