Browsing by Author "Smalley Meylan, Susan Valerie"

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    APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family
    (2012) Dussaillant, Catalina; Serrano Larrea, Valentina; Maiz Gurruchaga, Manuel Alberto; Eyheramendy Duerr, Susana; Cataldo Bascuñan, Luis Rodrigo; Smalley Meylan, Susan Valerie; Rigotti Rivera, Attilio; Rubio, Lorena.; Lagos Arévalo, Carlos Fernando; Santos Martín, José Luis
    Abstract Background Severe hypertriglyceridemia (HTG) has been linked to defects in LPL, APOC2, APOA5, LMF1 and GBIHBP1 genes. However, a number of severe HTG cases are probably caused by as yet unidentified mutations. Very high triglyceride plasma levels (>112 mmol/L at diagnosis) were found in two sisters of a Chilean consanguineous family, which is strongly suggestive of a recessive highly penetrant mutation. The aim of this study was to determine the genetic locus responsible for the severe HTG in this family. Methods We carried out a genome-wide linkage study with nearly 300,000 biallelic markers (Illumina Human CytoSNP-12 panel). Using the homozygosity mapping strategy, we searched for chromosome regions with excess of homozygous genotypes in the affected cases compared to non-affected relatives. Results A large homozygous segment was found in the long arm of chromosome 11, with more than 2,500 consecutive homozygous SNP shared by the proband with her affected sister, and containing the APOA5/A4/C3/A1 cluster. Direct sequencing of the APOA5 gene revealed a known homozygous nonsense Q97X mutation (p.Gln97Ter) found in both affected sisters but not in non-affected relatives nor in a sample of unrelated controls. Conclusion The Q97X mutation of the APOA5 gene in homozygous status is responsible for the severe hypertriglyceridemia in this family. We have shown that homozygosity mapping correctly pinpointed the genomic region containing the gene responsible for severe hypertriglyceridemia in this consanguineous Chilean family.
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    Association between eating behavior scores and obesity in Chilean children
    (2011) Santos Martín, José Luis; Ho-Urriola, Judith A.; González, Andrea; Smalley Meylan, Susan Valerie; Domínguez-Vásquez, Patricia.; Cataldo Bascuñan, Luis Rodrigo; Obregón, Ana M.; Amador, Paola.; Weisstaub, Gerardo.; Hodgson Bunster, María Isabel
    Abstract Background Inadequate eating behavior and physical inactivity contribute to the current epidemic of childhood obesity. The aim of this study was to assess the association between eating behavior scores and childhood obesity in Chilean children. Design and methods We recruited 126 obese, 44 overweight and 124 normal-weight Chilean children (6-12 years-old; both genders) according to the International Obesity Task Force (IOTF) criteria. Eating behavior scores were calculated using the Child Eating Behavior Questionnaire (CEBQ). Factorial analysis in the culturally-adapted questionnaire for Chilean population was used to confirm the original eight-factor structure of CEBQ. The Cronbach's alpha statistic (>0.7 in most subscales) was used to assess internal consistency. Non-parametric methods were used to assess case-control associations. Results Eating behavior scores were strongly associated with childhood obesity in Chilean children. Childhood obesity was directly associated with high scores in the subscales "enjoyment of food" (P < 0.0001), "emotional overeating" (P < 0.001) and "food responsiveness" (P < 0.0001). Food-avoidant subscales "satiety responsiveness" and "slowness in eating" were inversely associated with childhood obesity (P < 0.001). There was a graded relation between the magnitude of these eating behavior scores across groups of normal-weight, overweight and obesity groups. Conclusion Our study shows a strong and graded association between specific eating behavior scores and childhood obesity in Chile.
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    Association of RNASEL and 8q24 variants with the presence and aggressiveness of Hereditary and Sporadic Prostate Cancer in a Hispanic population
    (2014) San Francisco Reyes, Ignacio Felipe; Rojas, Pablo A.; Torres Estay, Verónica Alejandra; Smalley Meylan, Susan Valerie; Cerda Infante, Javier; Montecinos Acuña, Viviana; Hurtado Nazal, Claudia; Godoy Sánchez, Alejandro Samuel
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    Copy number polymorphism of the salivary amylase gene: Implications in human nutrition research
    (2012) Santos Martín, José Luis; Saus, E.; Smalley Meylan, Susan Valerie; Cataldo Bascuñan, Luis Rodrigo; Alberti Reus, Gigliola Loredana; Parada, J.; Gratacòs, M.; Estivill, X.
    The salivary alpha-amylase is a calcium-binding enzyme that initiates starch digestion in the oral cavity. The alpha-amylase genes are located in a cluster on the chromosome that includes salivary amylase genes (AMY1), two pancreatic alpha-amylase genes (AMY2A and AMY2B) and a related pseudogene. The AMY1 genes show extensive copy number variation which is directly proportional to the salivary alpha-amylase content in saliva. The alpha-amylase amount in saliva is also influenced by other factors, such as hydration status, psychosocial stress level, and short-term dietary habits. It has been shown that the average copy number of AMY1 gene is higher in populations that evolved under high-starch diets versus low-starch diets, reflecting an intense positive selection imposed by diet on amylase copy number during evolution. In this context, a number of different aspects can be considered in evaluating the possible impact of copy number variation of the AMY1 gene on nutrition research, such as issues related to human diet gene evolution, action on starch digestion, effect on glycemic response after starch consumption, modulation of the action of alpha-amylases inhibitors, effect on taste perception and satiety, influence on psychosocial stress and relation to oral health. Copyright (C) 2012 S. Karger AG, Basel
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    Heteroplasmia de la mutación del ADN mitocondrial m.3243A>G en la diabetes y sordera de herencia materna
    (2013) Cataldo Bascuñan, Luis Rodrigo; Olmos Coelho, Pablo Roberto; Smalley Meylan, Susan Valerie; Díez, Alberto; Parada Daza, Alejandra; Gejman Enríquez, Roger; Fadic Ruiz, Ricardo Julio Nicolás; Santos Martín, José Luis
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    Interleuquina-6 en la regulación de la ingesta energética post-ejercicio físico
    (2013) Santos Martín, José Luis; Almada, C.; Smalley Meylan, Susan Valerie
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    Melanocortin-4 receptor polymorphism rs17782313 : Association with obesity and eating in the absence of hunger in Chilean children
    (2014) Ho-Urriola, J.; Guzman-Guzman, I.; Smalley Meylan, Susan Valerie; Gonzalez, A.; Weisstaub, G.; Dominguez-Vasquez, P.; Valladares, M.; Amador, P.; Hodgson Bunster, María Isabel; Obregon, A.M.; Santos Martín, José Luis
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    Novel splice-affecting variants in CYP27A1 gene in two chilean patients with cerebrotendinous xanthomatosis
    (2015) Smalley Meylan, Susan Valerie; Preiss, Yudith; Suazo, José; Vega, Javier Andrés; Angellotti, Isidora; Lagos F., Carlos; Rivera, Enzo; Kleinsteuber, Karin; Campion, Javier; Martínez, J. Alfredo; Maíz Gurruchaga, Alberto Luis; Santos Martín, José Luis
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    Plasma levels of interleukin-6 and interleukin-18 after an acute physical exercise : relation with post-exercise energy intake in twins
    (2013) Almada, C.; Cataldo Bascuñan, Luis Rodrigo; Smalley Meylan, Susan Valerie; Díaz, E.; Serrano Reyes, Andrés; Hodgson Bunster, María Isabel; Santos Martín, José Luis
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    Polimorfismos genéticos de interleuquina 6 (IL6), IL6R e IL18 : asociación con componentes del síndrome metabólico en niños chilenos con obesidad
    (2014) Suazo, José; Smalley Meylan, Susan Valerie; Hodgson Bunster, María Isabel; Weisstaub, Gerardo; González, Andrea; Santos Martín, José Luis