Volume 12, Issue 4 (Int J Mol Cell Med 2023)                   Int J Mol Cell Med 2023, 12(4): 320-334 | Back to browse issues page

XML Print

Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
Inácio Â, Aguiar L, Carrilho R, Pires P, Ferreira J, Coelho L, et al . Genetic Contribution of the Adrenergic, Cholinergic, and Serotonergic Systems to Leiomyoma Development and Treatment. Int J Mol Cell Med 2023; 12 (4) :320-334
URL: http://ijmcmed.org/article-1-1947-en.html
Genetic Contribution of the Adrenergic, Cholinergic, and Serotonergic Systems to Leiomyoma Development and Treatment
Ângela Inácio 1, Laura Aguiar2 , Raquel Carrilho2 , Patrícia Pires2 , Joana Ferreira2 , Luís Coelho2 , Mário Rui Mascarenhas3 , Luís Sardinha4 , Tiago Bilhim5 , João Pisco5 , Manuel Bicho2 , Maria Clara Bicho3
1- Instituto de Investigação Científica Bento da Rocha Cabral, Calçada Bento Rocha Cabral, 14, 1257-047 Lisboa, Portugal. , minacio@medicina.ulisboa.pt
2- Instituto de Investigação Científica Bento da Rocha Cabral, Calçada Bento Rocha Cabral, 14, 1257-047 Lisboa, Portugal.
3- Instituto de Saúde Ambiental, Laboratório Associado TERRA, Faculdade de Medicina da Universidade de Lisboa, Av. Prof. Egas Moniz, 1649-028 Lisboa, Portugal.
4- Centro Interdisciplinar de Estudo da Performance Humana, Faculdade de Motricidade Humana da Universidade de Lisboa, Estrada da Costa 1499-002 Cruz Quebrada, Oeiras, Portugal.
5- Serviço de Radiologia de Intervenção do Hospital Saint Louis, R. Luz Soriano 182, 1200-249 Lisboa, Portugal.
Abstract:   (533 Views)
The link between the autonomic nervous system and tumor biology is being unfold. We aim to study the contribution of genes of the adrenergic (ADBR2 - rs1042713, NM_000024.6:c.46G>A, NP_000015.2:p. Gly16Arg), cholinergic (CHRNA5 - rs16969968, NM_000745.3:c.1192G>A, NP_000736.2:p.Asp398Asn), and serotonergic systems (SLC6A4 - 5-HTTVNTR-intron2, HTR2A - rs6313, NM_000621.5:c.102C>T, NP_ 001365853 .1: p. Ser 34=) to gynecological tumorigenesis and their treatment by embolization. A total of 517 DNA samples from women were analyzed. Samples were genotyped by PCR, PCR-RFLP and EndPoint genotyping. Results show a statistically significant association between the AA genotype of the ADBR2 gene and GG genotype of the CHRNA5 gene with leiomyoma (OR = 2.311; p = 0.003 and OR = 2.165; p = 0.001, respectively), and the epistatic interaction between genotypes increases the risk (OR = 2.458; p= 0.043). The GG genotype (CHRNA5) shows a lower reduction of the volume of the main leiomyoma after treatment (p=0.015). Combination of the genotypes 12/12-AA (SLC6A4 - ADBR2) increases the risk to leiomyoma (OR = 2.540, p= 0.030). TT genotype of HTR2A gene in combination with any of the two risk genotypes (of ADBR2 or CHRNA5) increases substantially the risk (OR = 5.266, p = 0.006; OR = 6.364, p=0.007, respectively). We conclude that ADBR2 and CHRNA5 genes have a relevant role that is enhanced by the epistatic relationship with the genes HTR2A and SLC6A4. CHRNA5 gene may also be a modulator of the success of embolization. We confirm the contribution of the genetics of Autonomous Nervous System to tumor biology.
Keywords: leiomyomas, embolization, ADBR2, CHRNA5, HTR2A, SLC6A4
Full-Text [PDF 300 kb]   (157 Downloads)    
Type of Study: Original Article | Subject: Genetics & Disease
Received: 2022/06/20 | Accepted: 2023/12/27 | Published: 2024/06/2
Add your comments about this article : Your username or Email:
CAPTCHA
Send email to the article author

Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

© 2024 CC BY-NC 4.0 | International Journal of Molecular and Cellular Medicine (IJMCM)

Designed & Developed by : Yektaweb