Estudio de asociación entre polimorfismos genéticos y fuerza muscular de estudiantes

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Document typeBachelor thesis
Date2019-06
Rights accessOpen Access
Abstract
La fuerza muscular es primordial para la salud y actividad humana. Sin embargo, el conocimiento que se
tiene de los factores genéticos que influyen en el tamaño y fuerza muscular es escaso. El proyecto Functional
single nucleotide polymorphisms Associated with Muscle Size and Strength (FAMuSS) es un estudio cuyo
objetivo es averiguar la asociación de 225 polimorfismos genéticos con el tamaño y la fuerza muscular antes y
después de 12 semanas de entrenamiento de fuerza de 1396 estudiantes de distintas etnias. Se practica una
exhaustiva depuración de los datos tratando los missings y valorando los polimorfismos mediante pruebas
como el equilibrio de Hardy-Weinberg, el estudio de la frecuencia del alelo menos común, análisis descriptivos
y el análisis de componentes principales. Se investigan los factores genéticos potencialmente relacionados
con la ganancia de fuerza muscular mediante modelos lineales uni y multivariantes usando polimorfismos y
haplotipos en esquemas genéticos aditivos, recesivos, dominantes y codominantes. Los métodos empleados
detectan algunos polifmorfismos y haplotipos asociados con la ganancia de la fuerza muscular. Muscular strength is critically important to health and human activity. The knowledge we have of the genetic
factors that influence the size, strength and response to muscular exercise is small. The project “Functional
single nucleotide polymorphisms Associated with Muscle Size and Strength” (FAMuSS) is a study funded by
National Institutes of Health (NIH) in the United States and carried out in different centers to investigate
the influence of the 225 selected genetic polymorphisms on the size and muscular strength before and after 12
weeks of strength training. The dominant arm has not been trained during the study, so it will be useful as
control. The muscle size measurement, the isometric and dynamic force will be looked at through standardized
tests and magnetic resonances. There are 346 variables, of which 225 of them are genetic polymorphisms, 76
are of muscular performance, 14 are physiological and 3 demographic variables. Data was collected from 1396
individuals, of which 632 were studied after the data was cleaned up. The subjects are students, all between
18 and 40 years of different ethnic groups who trained their non-dominant arm for 12 weeks. The database
was exhaustively curated by analysing missing data, testing genetic polymorphisms for Hardy-Weinberg
equilibrium, studying the distribution of the minor allele frequency, some descriptive analysis and principal
component analysis. Genetic factors potentially related to a gain of muscle strength were studied by using
uni and multivariate linear models using both polymorphisms and haplotypes in additive, recessive, dominant
or co-dominant form. The applied methodology detected some polymorphisms and haplotypes associated
with muscle strength gain.
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