研究人员发现，染色体3p21.1上的一种遗传变异增加了主要情绪性疾病发生的风险，如双相型障碍症（躁狂抑郁性精神病）和重性抑郁症，新成果发表在1月在线出版的《自然—遗传学》期刊上，它支持了这样一种理论：影响双相型障碍症和重性抑郁症的遗传变异有重叠的地方。
双相型障碍症和重性抑郁症是两种类型广泛的情绪疾病，世界上几百万人受此影响。重性抑郁症的特征表现为悲观和自我评价低下、失去压力、睡眠和食欲被扰乱、能量低、注意力不集中等。双相型障碍症是指抑郁期和狂躁期的交替出现。狂躁期的行为包括幻觉、过度活跃、精神旺盛和无休无止的行动。两相型障碍症和重性抑郁症都有高风险的自杀率。
Francis McMahon和同事合作，对大约7000名有某种严重情绪疾病的患者进行了金属分析。他们发现，染色体3p21的遗传变异与严重情绪疾病的发生风险率增加有关。
英文原文原始出处及摘要：
Nature Genetics 42, 128 - 131 (2010) 17 January 2010 | doi:10.1038/ng.523
Meta-analysis of genome-wide association data identifies a risk locus for major mood disorders on 3p21.1
Francis J McMahon1, Nirmala Akula1, Thomas G Schulze1,2, Pierandrea Muglia3,4, Federica Tozzi3, Sevilla D Detera-Wadleigh1, C J M Steele1, René Breuer2, Jana Strohmaier2, Jens R Wendland1, Manuel Mattheisen5,6,7, Thomas W Mühleisen5,6, Wolfgang Maier8, Markus M N?then5,6, Sven Cichon5,6, Anne Farmer9, John B Vincent4, Florian Holsboer10, Martin Preisig11 " Marcella Rietschel2,6 for the Bipolar Disorder Genome Study (BiGS) Consortium12
The major mood disorders, which include bipolar disorder and major depressive disorder (MDD), are considered heritable traits, although previous genetic association studies have had limited success in robustly identifying risk loci. We performed a meta-analysis of five case-control cohorts for major mood disorder, including over 13,600 individuals genotyped on high-density SNP arrays. We identified SNPs at 3p21.1 associated with major mood disorders (rs2251219, P = 3.63 × 10?8; odds ratio = 0.87; 95% confidence interval, 0.83–0.92), with supportive evidence for association observed in two out of three independent replication cohorts. These results provide an example of a shared genetic susceptibility locus for bipolar disorder and MDD.
