Distel Marijn A, Hottenga Jouke-Jan, Trull Timothy J, Boomsma Dorret I
Department of Biological Psychology, VU University Amsterdam, Amsterdam, The Netherlands.
Psychiatr Genet. 2008 Dec;18(6):302-7. doi: 10.1097/YPG.0b013e3283118468.
A large-scale twin study implicated genetic influences on borderline personality disorder (BPD) features, with a heritability estimate of 42%. To date, no genome-wide linkage study has been conducted to identify the genomic region(s) containing the quantitative trait loci that influence the manifestation of BPD features.
We conducted a family-based linkage study using Merlin regress. The participating families were drawn from the community-based Netherlands Twin Register. The sample consisted of 711 sibling pairs with phenotype and genotype data, and 561 additional parents with genotype data. BPD features were assessed on a quantitative scale.
Evidence for linkage was found on chromosomes 1, 4, 9, and 18. The highest linkage peak was found on chromosome 9p at marker D9S286 with a logarithm of odds score of 3.548 (empirical P=0.0001).
To our knowledge, this is the first linkage study on BPD features and shows that chromosome 9 is the richest candidate for genes influencing BPD. The results of this study will move the field closer to determining the genetic etiology of BPD and may have important implications for treatment programs in the future. Association studies in this region are, however, warranted to detect the actual genes.
一项大规模双生子研究表明遗传因素对边缘型人格障碍(BPD)特征有影响,遗传度估计为42%。迄今为止,尚未进行全基因组连锁研究来确定包含影响BPD特征表现的数量性状基因座的基因组区域。
我们使用Merlin回归进行了一项基于家系的连锁研究。参与研究的家庭来自基于社区的荷兰双生子登记处。样本包括711对有表型和基因型数据的同胞对,以及另外561名有基因型数据的父母。BPD特征通过定量量表进行评估。
在1号、4号、9号和18号染色体上发现了连锁证据。在9号染色体p臂上的标记D9S286处发现了最高的连锁峰,优势对数得分为3.548(经验P=0.0001)。
据我们所知,这是第一项关于BPD特征的连锁研究,表明9号染色体是影响BPD基因最丰富 的候选区域。本研究结果将使该领域更接近确定BPD的遗传病因,并可能对未来的治疗方案产生重要影响。然而,有必要在该区域进行关联研究以检测实际的基因。