Fibromodulin Gene Variants (FMOD) as Potential Biomarkers for Prostate Cancer and Benign Prostatic Hyperplasia.

By the year 2050, the world's elderly population may increase exponentially, raising the rate of disease characteristic of this group, such as prostate cancer (PCa) and benign prostatic hyperplasia (BPH). Prostate disorders have a multifactorial etiology, especially age and genetic factors. Currently, PCa is the second most frequent neoplasm in the male population worldwide. The fibromodulin gene encodes a small leucine-rich proteoglycan (SLRP) which acts in the collagen fibrillogenesis pathway, cell adhesion, and modulation of TGF-β signaling pathways, which has been recently associated with PCa. The present study sequenced the coding region of the FMOD in a sample of 44 PCa, 90 BPH, and 82 controls from a Brazilian population, and the results identified 6 variants: 2 missenses (p.(Tyr42Ser) and p.(Pro24Ala)); 3 synonymous (p.(His253=), p.(Asn353=), and p.(Glu79=)); and 1 intronic (c.980-114A>G). Of these, p.(Tyr42Ser), p.(Pro24Ala), and p.(Asn353=) are rare variants, and p.(Tyr42Ser) was predicted as potential pathogenic by the algorithms used here, in addition to not being observed in controls, suggesting that may be a potential biomarker for development of PCa and BPH. In conclusion, we identified for the first time, in Brazilian individuals with PCa and BPH, a potentially pathogenic variant in the analysis of FMOD gene. Further studies are needed to investigate the deleterious effect of this variant on the structure and/or function of the FMOD protein.

Disease markers. 2022 May 31*** epublish ***

Tamara Silva, Caroliny Pinto Gomes, Danielle Dutra Voigt, Ritiele Bastos de Souza, Karoline Medeiros, Nicole Lima Cosentino, Ana Carolina Proença Fonseca, Tatiana Martins Tilli, Enrique Antonio Covarrubias Loayza, Vivianne Galante Ramos, Pedro Hernán Cabello Acero

National Institute of Metrology, Quality and Technology, Rio de Janeiro, Brazil., Human Genetics Laboratory, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil., Laboratory of Genetics, School of Health Science, University of Grande Rio/AFYA, Rio de Janeiro, Brazil., Translational Oncology Platform, Center for Technological Development in Health, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil., Department of Health-Duque de Caxias Polyclinic, School of Health Science, University of Grande Rio/AFYA, Rio de Janeiro, Brazil.

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