定义遗传研究的自杀表型:精神病学基因组学联盟自杀工作组的观点。

IF 10.1 1区 医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
Sarah M C Colbert, Eric T Monson, Ole A Andreassen, Olatunde O Ayinde, Peter B Barr, Cosmin A Bejan, Zuriel Ceja, Hilary Coon, Emily DiBlasi, Howard J Edenberg, Joel Gelernter, Alexander Hatoum, Anastasia Izotova, Emma C Johnson, Erin A Kaufman, Henry R Kranzler, Maria Koromina, Kelli Lehto, Woojae Myung, John I Nurnberger, Alessandro Serretti, Jordan W Smoller, Murray B Stein, Clement C Zai, Annette Erlangsen, Marie Gaine, Lourdes Martorell, Reeteka Sud, Claudio Toma, Tim B Bigdeli, Nathan A Kimbrel, Douglas Ruderfer, Anna R Docherty, J John Mann, Niamh Mullins
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引用次数: 0

摘要

自杀表型,包括自杀意念(SI)、自杀企图(SA)和自杀死亡(SD),都是可遗传的,但在全基因组关联研究(GWAS)中,由于它们的个体复杂性、相互重叠和相关的自残表型,以及与精神疾病的不同关联,它们面临着独特的挑战。通过荟萃分析来自多个队列的数据,GWAS发现了几个与自杀表型相关的基因座。然而,结合来自许多研究小组的数据集,每个小组可能使用不同的研究设计,表型工具和自杀表型定义,提出了挑战。这些差异造成的异质性可能限制基因发现;统一表型定义以确保一致性将大大改善结果。在这里,我们描述了一个标准化的表现型方案,该方案借鉴了临床医生、研究人员和来自精神病学基因组学联盟自杀工作组的专家的专业知识,提出了基因研究中SI、SA和SD的共识定义。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Defining suicidality phenotypes for genetic studies: perspectives of the Psychiatric Genomics Consortium Suicide Working Group.

Suicidality phenotypes, consisting of suicidal ideation (SI), suicide attempt (SA), and suicide death (SD), are all heritable but present unique challenges in genome-wide association studies (GWAS) due to their individual complexity, overlap with each other and with related self-harm phenotypes, and varying associations with psychiatric disorders. GWAS have uncovered several loci associated with suicidality phenotypes by meta-analyzing data from multiple cohorts. However, combining datasets from many research groups, where each group may use different study designs, phenotyping instruments, and definitions of suicidality phenotypes, presents challenges. Heterogeneity resulting from these differences can limit genetic discovery; harmonizing phenotype definitions to ensure consistency will greatly improve results. Here, we describe a standardized phenotyping protocol that draws on the expertise of a subgroup of clinicians, researchers, and experts from the Psychiatric Genomics Consortium Suicide Working Group to propose consensus definitions for SI, SA, and SD for genetic studies.

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来源期刊
Molecular Psychiatry
Molecular Psychiatry 医学-精神病学
CiteScore
20.50
自引率
4.50%
发文量
459
审稿时长
4-8 weeks
期刊介绍: Molecular Psychiatry focuses on publishing research that aims to uncover the biological mechanisms behind psychiatric disorders and their treatment. The journal emphasizes studies that bridge pre-clinical and clinical research, covering cellular, molecular, integrative, clinical, imaging, and psychopharmacology levels.
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