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1.
Gene ; 748: 144675, 2020 Jul 20.
Article in English | MEDLINE | ID: mdl-32315729

ABSTRACT

BACKGROUND: Accumulating evidence indicates that alterations in the serotonin system are related to changes in eating behavior. The serotonin transporter is encoded by the SLC6A4 gene and has been an interesting candidate for anorexia nervosa- restrictive type (AN-R) and bulimia nervosa (BN). Interestingly, functional variants have been identified in the coding region that could contribute to understand the role of this gene in eating disorders. The aim was to identify genetic variants in five exons of SLC6A4 gene using Sanger-sequencing in anorexia nervosa-restrictive and bulimia nervosa patients, and a control group. METHOD: The sample consisted of 86 patients and 50 control subjects. We obtained DNA samples from all subjects and performed Sanger-sequence analysis of the 1, 2, 3, 8 and 9 exons. The sequences were compared with the reference sequence of the SLC6A4 gene. RESULTS: The sequence analysis of the five exons of the gene identified several variants. In the AN-R, we observed two novel variants (g.130delA and c.1740G > A), three synonymous variants (rs57172732, rs55908624, rs74478645) and a missense variant (L90F) reporting a probably deleterious and damaging variant. In BN, we identified two novel variants (g.295C > G and c.1725G > A), and the non-synonymous (rs28914832/I425V), reported as benign. Interestingly, we observed the 425V variant in three patients in the BN, variant that previously was reported in patients with a spectrum obsessive-compulsive disorder. CONCLUSION: The results of our study suggest that variants of the SLC6A4 gene are related with a possible damaging or gain-of-function and may be involved in the susceptibility to AN-R and BN patients. However, the present findings should be considered as preliminary until replicated in large samples.


Subject(s)
Anorexia Nervosa/genetics , Bulimia Nervosa/genetics , Exons , Serotonin Plasma Membrane Transport Proteins/genetics , Adolescent , Case-Control Studies , Female , Genetic Predisposition to Disease , Humans , Young Adult
4.
Eat Weight Disord ; 9(4): 243-8, 2004 Dec.
Article in English | MEDLINE | ID: mdl-15844395

ABSTRACT

OBJECTIVE: To evaluate the psychometric properties of the Mexican version of the Eating Attitudes Test (EAT-40) in clinical and control populations in Mexico City. METHOD: 276 female patients with eating disorders [52 with anorexia nervosa (AN), 102 with bulimia nervosa (BN) and 122 with eating disorders not otherwise specified (EDNOS)] and a comparison group of 280 normal control female subjects completed the EAT. RESULTS: The EAT had an adequate level of internal consistency in the clinical sample (Cronbach's alpha=0.90). Total score was significantly correlated with criterion group membership (r=0.77, p< or =0.0001), suggesting a high level of concurrent validity. There was a small overlap in the frequency distribution of the 2 groups (eating disorders and control) and only 6% of the normal controls scored as high as lowest anorexic and bulimic patients. The factorial analysis yielded five factors accounting for 46.6% of total variance: 1) Dietary restraint, 2) Bulimia, 3) Drive of thinness, 4) Food preoccupation and 5) Perceived social pressure. CONCLUSIONS: This study provides evidence that the Mexican version of the EAT is an economical, reliable and potentially useful instrument for research in this field.


Subject(s)
Feeding and Eating Disorders/psychology , Psychological Tests , Adolescent , Adult , Anorexia/diagnosis , Anorexia/ethnology , Anorexia/psychology , Bulimia/diagnosis , Bulimia/ethnology , Bulimia/psychology , Case-Control Studies , Discriminant Analysis , Factor Analysis, Statistical , Feeding and Eating Disorders/diagnosis , Feeding and Eating Disorders/ethnology , Female , Humans , Mexico , Reproducibility of Results , Sensitivity and Specificity
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