双相障碍 I 型焦虑特征的全基因组 QTL 分析。

Genome-wide QTL analysis for anxiety trait in bipolar disorder type I.

机构信息

Centro de Investigación en Biología Celular y Molecular, Universidad de Costa Rica, Costa Rica.

Genetics and Genomics Research and Breeding Program Planning, Dog Genetics LLC., Sunnyside, NY, USA.

出版信息

J Affect Disord. 2018 Jul;234:105-108. doi: 10.1016/j.jad.2017.12.019. Epub 2017 Dec 11.

DOI:10.1016/j.jad.2017.12.019

PMID:29525350

Abstract

BACKGROUND

Genetic studies have been consistent that bipolar disorder type I (BPI) runs in families and that this familial aggregation is strongly influenced by genes. In a preliminary study, we proved that anxiety trait meets endophenotype criteria for BPI.

METHODS

We assessed 619 individuals from the Central Valley of Costa Rica (CVCR) who have received evaluation for anxiety following the same methodological procedure used for the initial pilot study. Our goal was to conduct a multipoint quantitative trait linkage analysis to identify quantitative trait loci (QTLs) related to anxiety trait in subjects with BPI. We conducted the statistical analyses using Quantitative Trait Loci method (Variance-components models), implemented in Sequential Oligogenic Linkage Analysis Routines (SOLAR), using 5606 single nucleotide polymorphism (SNPs).

RESULTS

We identified a suggestive linkage signal with a LOD score of 2.01 at chromosome 2 (2q13-q14).

LIMITATIONS

Since confounding factors such as substance abuse, medical illness and medication history were not assessed in our study, these conclusions should be taken as preliminary.

CONCLUSIONS

We conclude that region 2q13-q14 may harbor a candidate gene(s) with an important role in the pathophysiology of BPI and anxiety.

摘要

背景

遗传研究一致表明，I 型双相情感障碍（BPI）在家族中发病，这种家族聚集受基因的强烈影响。在一项初步研究中，我们证明了焦虑特质符合 BPI 的内表型标准。

方法

我们评估了来自哥斯达黎加中央山谷（CVCR）的 619 个人，他们在接受了与初始试点研究相同的方法程序的焦虑评估。我们的目标是进行多点数量性状连锁分析，以确定与 BPI 患者的焦虑特质相关的数量性状基因座（QTL）。我们使用定量性状基因座方法（方差分量模型），在 SOLAR 中实施，使用 5606 个单核苷酸多态性（SNP）进行了统计分析。