A genome-wide linkage study in families with major depression and co-morbid unexplained swelling.
A genome-wide linkage study in families with major depression and co-morbid unexplained swelling.
复制标题
对患有重度抑郁症和共病不明原因肿胀的家庭进行的全基因组连锁研究。
DOI：
10.1002/ajmg.b.30615
复制
发表时间：
2008
期刊：
影响因子：
--
通讯作者：
Anderson CA
中科院分区：
文献类型：
--
作者：
Anderson CA
重度抑郁症（MDD）是一种常见的遗传性疾病。表型的多样性加上病原学和遗传异质性在寻找致病基因位点方面存在巨大障碍。研究有许多受影响个体的大家庭，以及选择明确定义的抑郁症临床亚组，是减少这种复杂性的两种方法。不明原因的肿胀症状（USS）在女性中很常见，许多患者有强烈的个人和家族抑郁症病史。共病性抑郁和肿胀症状定义了一种有用的亚表型，用于研究抑郁症的遗传因素。我们利用MDD与USS共患病的四个家族的371个微卫星标记完成了全基因组连锁分析。在47名受影响的个体中，28人同时患有重度抑郁症和不明原因的肿胀，11人仅患有肿胀症状，8人仅患有重度抑郁症。参数标记特异性分析确定了一个暗示性位点D8S260 (LOD = 2.02)，非参数多点方差成分分析确定了7p区域（LOD = 2.10）。在14q染色体上发现了一个47 cM的提示连锁区域（通过参数和非参数方法确定），并使用精细定位标记进行了进一步研究，但随着标记信息含量的增加，该区域的连锁证据减少。©2007 Wiley‐Liss, Inc。
Major depressive disorder (MDD) is a common heritable condition. The diversity of the phenotype coupled with aetiological and genetic heterogeneity present formidable obstacles in the search for causative genetic loci. Studies of large families with many affected individuals, and the selection of well‐defined clinical subgroups of depression, are two ways to reduce this complexity. Unexplained swelling symptoms (USS) are common in women and many patients give a strong personal and family history of depression. Co‐morbid depression and swelling symptoms define a useful sub‐phenotype for investigating genetic factors in depression. We have completed a genome‐wide linkage analysis using 371 microsatellite markers in four families where MDD is co‐morbid with USS. Of 47 affected individuals, 28 had both MDD and unexplained swelling, 11 had symptoms of swelling alone, and 8 had MDD alone. Parametric marker‐specific analysis identified one suggestive locus, D8S260 (LOD = 2.02) and non‐parametric multipoint variance component analysis identified a region on 7p (LOD = 2.10). A 47 cM suggestive linkage region on chromosome 14q (identified by both parametric and non‐parametric methods) was identified and investigated further with fine‐mapping markers but the evidence for linkage to this region decreased with increased marker information content. © 2007 Wiley‐Liss, Inc.