Exploration of large, rare copy number variants associated with psychiatric and neurodevelopmental disorders in individuals with anorexia nervosa

Yılmaz, Zeynep; Szatkiewicz, Jin P.; Crowley, James J.; Ancalade, NaEshia; Brandys, Marek K.; Elburg, Annemarie van; Kovel, Carolien G.F. de; Adan, Roger A.H.; Gratacòs, Mónica; Fernández‐Aranda, Fernando; Escaramís, Geòrgia; González, Juan R.; Estivill, Xavier; Zeggini, Eleftheria; Sullivan, Patrick F.; Bulik, Cynthia M.

doi:10.1097/ypg.0000000000000172

Cited by 20 publications

(22 citation statements)

References 24 publications

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“…CNVs occur when sections of the genome are repeated or deleted and this repetition or deletion varies between individuals. In 2017, the largest CNV survey of AN was conducted [*31]. This report included approximately 2,000 AN cases and examined the prevalence of rare CNVs previously associated with psychiatric and neurodevelopmental disorders.…”

Section: Future Perspectivesmentioning

confidence: 99%

Genetics of Anorexia Nervosa

Baker

Schaumberg

Munn‐Chernoff

2017

Curr Psychiatry Rep

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Purpose of review: Genetic factors contribute to the etiology of anorexia nervosa (AN). This review synthesizes the current state of knowledge about the genetic etiology of AN, provides directions for future research, and discusses clinical implications for this research. Recent findings: Candidate gene meta-analyses indicate serotonin genes may be involved in the genetic etiology of AN. Three genome-wide association studies have been conducted and one genome-wide significant locus was identified. Cross-disorder analyses suggest shared genetic risk between AN and several psychiatric, educational, and medical phenotypes. Summary: Much has been learned about the genetic etiology of AN over the past three decades. However, to fully understand the genetic architecture, we must consider all aspects including common variation, cross-disorder analysis, rare variation, copy number variation, and gene-environment interplay. Findings have important implications for the development of treatment and prevention approaches and for how AN, and psychiatric and medical diseases in general, are conceptualized.

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Section: Future Perspectivesmentioning

confidence: 99%

Genetics of Anorexia Nervosa

Baker

Schaumberg

Munn‐Chernoff

2017

Curr Psychiatry Rep

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“…The adolescent and young adult populations are considerably vulnerable to developing eating disorders and their serious physical and psychosocial consequences [6,7]. Moreover, much epidemiological research specifically focusing on eating disorders has reported that genetic and sociocultural predispositions as well as biological and psychological vulnerabilities play an important role in their development [8,9,10].…”

Section: Introductionmentioning

confidence: 99%

Assessment of Knowledge, Attitudes, and Behaviors toward Eating Disorders among Adolescents in Italy

Napolitano

Bencivenga

Pompili

et al. 2019

IJERPH

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The objectives of this survey were to assess the knowledge, attitudes, and behaviors toward eating disorders among adolescents in Italy. The survey was undertaken between May and June 2017 among a random sample of 420 adolescents aged 14–20 years. Data were collected through a self-administered questionnaire. Only 22.8% correctly knew both the definition of anorexia and bulimia nervosa. Female, overweight or obese individuals, and who had at least one parent with a college degree or higher level of education were more likely to have this knowledge. More than one third (38.8%) had a fear of getting fat. Female, overweight or obese individuals, who did not know the definition of anorexia and bulimia nervosa, who avoided eating when they were hungry, and who always and usually were engaged in dieting behavior were more likely to have a fear of getting fat. Only 10.1% and 11.9% always and usually were engaged in dieting behavior, and 40.8% never did so. Respondents who usually/always had a strong desire to be thinner and who had a fear of getting fat were more likely to be engaged in dieting behavior. There is an urgent need to inform Italian adolescents about eating disorders, and healthcare workers may play a crucial role in distributing eating disorder-related knowledge.

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“…A microduplication locus at 15q11.2 was suggested of genetic association with AN with nominal significance (P=0.036), whereas it did not pass correction for multiple testings (Wang et al, 2011). However, a recent case-only study including 1983 cases of AN did not identify this microduplication locus, while genotyping data of the Illumina 660W-Quad SNP arrays (Boraska et al, 2014) and PennCNV were used for the CNV analysis (Yilmaz et al, 2017).…”

Section: Microduplication Of Bp1-bp2 and Anorexia Nervosamentioning

confidence: 99%

Microduplications at the 15q11.2 BP1–BP2 locus are enriched in patients with anorexia nervosa

Chang

Liu

et al. 2019

Journal of Psychiatric Research

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Microduplication at 15q11.2 have been reported in genetic association studies of schizophrenia and autism. Given the potential overlap in psychiatric symptoms of schizophrenia and autism with anorexia nervosa (AN), we were inspired to test the association of this CNV locus with the genetic susceptibility of AN using ParseCNV, a highly quality controlled CNV pipeline developed by our group. The CNV analysis was performed in 1,017 AN cases and 7,250 controls using the Illumina HumanHap610 SNP arrays data. We uncovered association of the 15q11.2 microduplication with AN with P=0.00023, while no genetic association between the microdeletion of this region and AN was identified. Among four genes in this region that are not imprinted, NIPA1 has the highest expression in brain and encodes a magnesium transporter protein on early endosomes and the cell surface in neurons. Targeting at Mg 2+ uptake mediated by NIPA1 presents an interesting research topic for the explorations of novel therapy for AN and other neurobehavioral diseases, such as schizophrenia and autism.

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Exploration of large, rare copy number variants associated with psychiatric and neurodevelopmental disorders in individuals with anorexia nervosa

Cited by 20 publications

References 24 publications

Genetics of Anorexia Nervosa

Genetics of Anorexia Nervosa

Assessment of Knowledge, Attitudes, and Behaviors toward Eating Disorders among Adolescents in Italy

Microduplications at the 15q11.2 BP1–BP2 locus are enriched in patients with anorexia nervosa

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