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PTPN22 gene functional polymorphism (rs2476601) in older adults with frailty syndrome

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Abstract

The frailty syndrome is a common clinical marker of vulnerability in older adults conducive to an overall decline in inflammatory stress responsiveness; yet little is known about the genetic risk factors for frailty in elderly. Our aim was to investigate the association between the rs2476601 polymorphism in PTPN22 gene and susceptibility to frailty in Mexican older adults. Data included 630 subjects 70 and older from The Coyoacán cohort, classified as frail, pre-frail, and non-frail following Fried’s criteria. Sociodemographic and clinical characteristics were compared between groups at baseline and after a multivariate analysis. The rs2476601 polymorphism was genotyped by TaqMan genotyping assay using real-time PCR and genotype frequencies were determined for each frailty phenotype in all participants and subsets by age range. Genetic association was examined using stratified and interaction analyses adjusting for age, sex and variables selected in the multivariate analysis. Disability for day-life activities, depression and cognitive impairment were associated with the risk of pre-frailty and frailty at baseline and after adjustment. Carrying the T allele increased significantly the risk of frailty in patients 76 and older (OR 5.64, 95% CI 4.112–7.165) and decreased the risk of pre-frailty under no clinical signs of depression (OR 0.53; 95% CI 0.17–1.71). The PTPN22 polymorphism, rs2476601, could be a genetic risk factor for frailty as subject to quality of life. This is the first study analyzing such relationship in Mexican older adults. Confirming these findings requires additional association studies on wider age ranges in populations of older adults with frailty syndrome.

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Funding

This study was supported by funding from Universidad de Guadalajara-ProSNI 2018, assigned to Nora Magdalena Torres-Carrillo, PhD.

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Author notes

  1. Rubén Rabaneda-Bueno and Norma Torres-Carrillo have equal contributions.

Authors and Affiliations

  1. Biology Centre of the Czech Academy of Sciences, Institute of Hydrobiology, 370 05, České Budějovice, Czech Republic

    Rubén Rabaneda-Bueno

  2. Departamento de Microbiología y Patología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, México

    Rubén Rabaneda-Bueno, Norma Torres-Carrillo, Thalía Gabriela Pérez-Suárez, Rosa Cremades & Nora Magdalena Torres-Carrillo

  3. Departamento de Geriatría, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, México

    José Alberto Ávila-Funes

  4. Instituto Nacional de Geriatría, Mexico City, México

    Luis Miguel Gutiérrez-Robledo & Sara Torres-Castro

  5. Departamento de Biotecnología Agrícola, Instituto Politécnico Nacional-Centro Interdisciplinario de Investigación Para el Desarrollo Integral Regional (CIIDIR), Unidad Sinaloa, Guasave, Sinaloa, México

    José Luis Acosta

  6. Departamento de Enfermería Clínica Integrada, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, México

    Ana Lilia Fletes-Rayas

  7. Departamento de Biología Molecular, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, México

    Itzae Gutierrez-Hurtado

  8. Departamento de Biología Celular y Molecular, Centro Universitario de Ciencias Biológicas y Agropecuarias, Universidad de Guadalajara, Guadalajara, Jalisco, México

    Elena Sandoval-Pinto

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  1. Rubén Rabaneda-Bueno
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  12. Nora Magdalena Torres-Carrillo
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Correspondence to Nora Magdalena Torres-Carrillo.

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This study was performed in accordance with Declaration of Helsinki ethics guidelines, and informed consent was obtained from each of its participants. Protocol and informed consent forms were approved by the Ethical Committees of the Instituto Nacional de Ciencias Medicas y Nutrición Salvador Zubirán (INCMNSZ) and the Instituto Nacional de Geriatría in Mexico City.

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Rabaneda-Bueno, R., Torres-Carrillo, N., Ávila-Funes, J.A. et al. PTPN22 gene functional polymorphism (rs2476601) in older adults with frailty syndrome. Mol Biol Rep 48, 1193–1204 (2021). https://doi.org/10.1007/s11033-021-06212-4

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