Genome wide analysis of rare copy number variations in alcohol abuse or dependence

被引：8

作者：

Rodriguez-Lopez, Julio ^{[1
]}

Florezb, Gerardo ^{[2
]}

Blanco, Vanessa ^{[3
]}

Pereiro, Cesar ^{[4
]}

Manuel Fernandez, Jose ^{[5
]}

Farinas, Emilio ^{[6
]}

Estevez, Valentin ^{[2
]}

Gomez-Trigo, Jesus ^{[2
,9
]}

Gurriaran, Xaquin ^{[1
]}

Calvo, Raquel ^{[1
]}

Saiz, Pilar ^{[7
]}

Osorio, Jesus ^{[10
]}

Carrera, Indalecio ^{[11
]}

Jose Paramo, Maria ^{[11
]}

Lopez, Nicolas ^{[11
]}

Garcia, Ana ^{[11
]}

Maria Gonzalez, Ana ^{[12
]}

Maria Rodriguez, Juana ^{[12
]}

Matalobos, Manuela ^{[12
]}

Pomares, Joaquin ^{[13
]}

Jesus Longo, Maria ^{[14
]}

Alvarez, Sandra ^{[14
]}

Pino, Carlos ^{[15
]}

Martin, Carlos ^{[15
]}

Lorenzo, Angeles ^{[16
]}

Paramo, Mario ^{[17
]}

Paz, Eduardo ^{[17
]}

Diaz-Llenderozas, Francisco ^{[17
]}

Perez, Manuela ^{[17
]}

Gomez-Ramiro, Marta ^{[17
]}

Portes, Jose ^{[17
]}

Serrano, Manuel ^{[18
]}

Miguel, Domingo ^{[18
]}

Maria Lopez-Crecente, Ana ^{[19
]}

Bobes, Julio ^{[20
]}

Garcia-Portilla, Paz ^{[20
]}

de la Fuente, Lorena ^{[20
]}

Villa, Rocio ^{[21
]}

Rodriguez-Revuelta, Julia ^{[21
]}

Riera, Leonor ^{[21
]}

Rubio, Carmen ^{[21
]}

Herrero, Rocio ^{[21
]}

Lino Vazquez, Fernando ^{[8
]}

Arrojo, Manuel ^{[1
,9
]}

Costas, Javier ^{[1
]}

机构：

[1] Complexo Hosp Univ Santiago de Compostela CHUS, Serv Galego Saude SERGAS, Inst Invest Sanitaria IDIS Santiago de Compostela, Santiago De Compostela, Galicia, Spain

[2] CHUO, Serv Galego Saude SERGAS, Serv Psiquiatria, Unidade Conductas Adictivas, Orense, Galicia, Spain

[3] Univ Santiago de Compostela, Dept Evolutionary & Educ Psychol, Santiago De Compostela, Galicia, Spain

[4] Unidade Asistencial Drogodependencias ACLAD, La Coruna, Galicia, Spain

[5] Unidade Asistencial Drogodependencias, Ribeira, Galicia, Spain

[6] UMAD, Santiago De Compostela, Galicia, Spain

[7] Univ Oviedo, Ctr Invest Biomed Red Salud Mental CIBERSAM, Serv Salud Principado Asturias SESPA, Dept Psychiat, Oviedo, Spain

[8] Univ Santiago de Compostela, Dept Clin Psychol & Psychobiol, Santiago De Compostela, Galicia, Spain

[9] Complexo Hosp Univ Santiago de Compostela, Serv Galego Saude SERGAS, Serv Psiquiatria, Santiago De Compostela, Galicia, Spain

[10] SERGAS, Serv Saude Mental & Asistencia Drogodependencias, Santiago De Compostela, Galicia, Spain

[11] Unidade Asistencial Drogodependencias ACLAD, La Coruna, Galicia, Spain

[12] UMAD, Santiago De Compostela, Galicia, Spain

[13] Unidade Asistencial Drogodependencias, Noia, Galicia, Spain

[14] CHUO, Serv Galego Saude SERGAS, Serv Psiquiatria, Unidade Conductas Adictivas, Orense, Galicia, Spain

[15] Unidade Asistencial Drogodependencias, Pontevedra, Galicia, Spain

[16] UTA, Pontevedra, Galicia, Spain

[17] Complexo Hosp Univ Santiago de Compostela CHUS, Serv Galego Saude SERGAS, Serv Psiquiatria, Santiago De Compostela, Galicia, Spain

[18] CHUAC, Serv Galego Saude SERGAS, Serv Psiquiatria, La Coruna, Galicia, Spain

[19] Hosp Univ Lucus Augusti, Serv Galego Saude SERGAS, Serv Psiquiatria, Lugo, Galicia, Spain

[20] Univ Oviedo, Ctr Invest Biosanitaria Red Salud Mental CIBERSAM, Serv Salud Principado Asturias SESPA, Oviedo, Spain

[21] Serv Salud Principado Asturias SESPA, Oviedo, Spain

来源：

JOURNAL OF PSYCHIATRIC RESEARCH | 2018年 / 103卷

关键词：

Alcoholism; Copy number variants; Deletions; Genome; pLI; Substance use disorder; ENVIRONMENTAL RISK-FACTORS; PSYCHIATRIC-DISORDERS; SUBSTANCE-ABUSE; SCHIZOPHRENIA; VARIANTS; GENETICS; ADOLESCENCE; ASSOCIATION; SPECIFICITY; COMORBIDITY;

D O I：

10.1016/j.jpsychires.2018.06.001

中图分类号：

R749 [精神病学];

学科分类号：

100205 ;

摘要：

Genetics plays an important role in alcohol abuse/dependence. Its heritability has been estimated as 45-65%. Rare copy number variations (CNVs) have been confirmed as relevant genetic factors in other neuropsychiatric disorders, such as autism spectrum disorders, schizophrenia, epilepsy, or Tourette syndrome. In the present study, we analyzed the role of rare CNVs affecting exons of coding genes in a sample from Northwest Spain genotyped using the Illumina Infinium PsychArray Beadchip. After rigorous genotyping quality control procedure, 712 patients with alcohol abuse or dependence and 804 controls were used for CNV detection. CNV calling was performed using PennCNV and cnvPartition, and analyses were restricted to CNVs of at least 100 kb and including at least 10 single nucleotide polymorphisms. Logistic regression was used to test for the effect of CNV as well as number of genes affected by CNVs on case/control status, after adjustment for demographic and experimental covariates. We have found an excess of deletions (p = 0.008) and genes affected by deletions (p = 0.017) in cases. This effect was restricted to the 14.8% of affected genes that are intolerant to loss-of function mutations (gene count p = 0.009). The importance of this subset of genes is emerging in other psychiatric disorders of neurodevelopmental origin, suggesting that disturbance in neurodevelopment mediated by genetic alterations may be a risk factor for alcohol use disorder.

引用

页码：212 / 218

页数：7

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