以脑白质高信号作为内表型对Notch3作为双相情感障碍候选基因进行研究。

Investigation of Notch3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype.

作者信息

Ahearn Eileen P, Speer Marcy C, Chen Y T, Steffens David C, Cassidy Frederick, Van Meter Susan, Provenzale James M, Weisler Richard H, Krishnan K Ranga Rama

机构信息

Department of Psychiatry, Duke University Medical Center, Durham, North Carolina, USA.

出版信息

Am J Med Genet. 2002 Aug 8;114(6):652-8. doi: 10.1002/ajmg.10512.

DOI:10.1002/ajmg.10512

PMID:12210282

Abstract

The purpose of the study was to consider MRI hyperintensities as a potential endophenotype for bipolar disorder (BPD) and to investigate Notch3 (CADASIL) as a candidate gene for BPD. MRI scans were performed on 21 members of a family with a high incidence of BPD. Two-point and multipoint linkage analyses were performed and two exons of Notch3 were investigated with SSCP. Fifteen of 21 family members had MRI hyperintensities, including all bipolar patients and six family members with no affective illness. Two-point linkage analysis yielded negative results for all models. Multipoint linkage analysis yielded negative results except for Model 1a, in which a maximal LOD score was -1.24. A mutation screen of Exons 3 and 4 was negative. Notch3 does not appear to be a candidate gene for BPD in this family.

摘要

该研究的目的是将磁共振成像（MRI）高信号视为双相情感障碍（BPD）的一种潜在内表型，并研究Notch3（伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病，CADASIL）作为BPD的候选基因。对一个BPD高发家族的21名成员进行了MRI扫描。进行了两点和多点连锁分析，并用单链构象多态性（SSCP）研究了Notch3的两个外显子。21名家族成员中有15人有MRI高信号，包括所有双相情感障碍患者和6名无情感疾病的家族成员。两点连锁分析对所有模型均得出阴性结果。除模型1a外，多点连锁分析得出阴性结果，模型1a的最大对数优势（LOD）分数为-1.24。外显子3和4的突变筛查结果为阴性。在这个家族中，Notch3似乎不是BPD的候选基因。