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"Anorexia"
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A genome-wide association study of anorexia nervosa
Anorexia nervosa (AN) is a complex and heritable eating disorder characterized by dangerously low body weight. Neither candidate gene studies nor an initial genome-wide association study (GWAS) have yielded significant and replicated results. We performed a GWAS in 2907 cases with AN from 14 countries (15 sites) and 14 860 ancestrally matched controls as part of the Genetic Consortium for AN (GCAN) and the Wellcome Trust Case Control Consortium 3 (WTCCC3). Individual association analyses were conducted in each stratum and meta-analyzed across all 15 discovery data sets. Seventy-six (72 independent) single nucleotide polymorphisms were taken forward for
in silico
(two data sets) or
de novo
(13 data sets) replication genotyping in 2677 independent AN cases and 8629 European ancestry controls along with 458 AN cases and 421 controls from Japan. The final global meta-analysis across discovery and replication data sets comprised 5551 AN cases and 21 080 controls. AN subtype analyses (1606 AN restricting; 1445 AN binge–purge) were performed. No findings reached genome-wide significance. Two intronic variants were suggestively associated: rs9839776 (
P
=3.01 × 10
−7
) in
SOX2OT
and rs17030795 (
P
=5.84 × 10
−6
) in
PPP3CA
. Two additional signals were specific to Europeans: rs1523921 (
P
=5.76 × 10
−
6
) between
CUL3
and
FAM124B
and rs1886797 (
P
=8.05 × 10
−
6
) near
SPATA13
. Comparing discovery with replication results, 76% of the effects were in the same direction, an observation highly unlikely to be due to chance (
P
=4 × 10
−6
), strongly suggesting that true findings exist but our sample, the largest yet reported, was underpowered for their detection. The accrual of large genotyped AN case-control samples should be an immediate priority for the field.
Journal Article
Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness
1
, affecting 0.9–4% of women and 0.3% of men
2
–
4
, with twin-based heritability estimates of 50–60%
5
. Mortality rates are higher than those in other psychiatric disorders
6
, and outcomes are unacceptably poor
7
. Here we combine data from the Anorexia Nervosa Genetics Initiative (ANGI)
8
,
9
and the Eating Disorders Working Group of the Psychiatric Genomics Consortium (PGC-ED) and conduct a genome-wide association study of 16,992 cases of anorexia nervosa and 55,525 controls, identifying eight significant loci. The genetic architecture of anorexia nervosa mirrors its clinical presentation, showing significant genetic correlations with psychiatric disorders, physical activity, and metabolic (including glycemic), lipid and anthropometric traits, independent of the effects of common variants associated with body-mass index. These results further encourage a reconceptualization of anorexia nervosa as a metabo-psychiatric disorder. Elucidating the metabolic component is a critical direction for future research, and paying attention to both psychiatric and metabolic components may be key to improving outcomes.
Genome-wide analyses identify eight independent loci associated with anorexia nervosa. Genetic correlations implicate both psychiatric and metabolic components in the etiology of this disorder, even after adjusting for the effects of common variants associated with body mass index.
Journal Article
EDITORIAL
Besonders im Zusammenhang mit der Borderline Persönlichkeitsstörung im Erwachsenenalter ist der Einfluss früher Bindungstraumatisierungen empirisch gut belegt. Noch höher war die Rate des Bindungstraumas, welches über die Hälfte der Jugendlichen aufwiesen.
Journal Article
Autism Spectrum Disorder in Anorexia Nervosa: An Updated Literature Review
Purpose of Review
There is growing interest in the relationship between anorexia nervosa (AN) and autism spectrum disorder (ASD). This review aimed to synthesise the most recent research on this topic to identify gaps in current knowledge, directions for future research and reflect on implications for treatment.
Recent Findings
Eight studies assessing the presence of ASD in AN were identified in the literature along with three studies examining the impact of symptoms of ASD on treatment outcome. Research with young people and using parental-report measures suggest lower rates of co-morbidity than previous adult studies.
Conclusions
The wide range of diagnostic tools, methodologies and populations studied make it difficult to determine the prevalence of ASD in AN. Despite this, studies consistently report over-representation of symptoms of ASD in AN. Co-morbid AN and ASD may require more intensive treatment or specifically tailored interventions. Future longitudinal research and female-specific diagnostic tools would help elucidate the relationship between these two disorders.
Journal Article