Reichman Rachel D, Gaynor Sophia C, Monson Eric T, Gaine Marie E, Parsons Meredith G, Zandi Peter P, Potash James B, Willour Virginia L
Department of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, Iowa.
Molecular Physiology and Biophysics, Iowa Neuroscience Institute, Carver College of Medicine, University of Iowa, Iowa City, Iowa.
Am J Med Genet B Neuropsychiatr Genet. 2020 Mar;183(2):128-139. doi: 10.1002/ajmg.b.32767. Epub 2019 Dec 19.
Glutamatergic signaling is the primary excitatory neurotransmission pathway in the brain, and its relationship to neuropsychiatric disorders is of considerable interest. Our previous attempted suicide genome-wide association study, and numerous studies investigating gene expression, genetic variation, and DNA methylation have implicated aberrant glutamatergic signaling in suicide risk. The glutamatergic pathway gene LRRTM4 was an associated gene identified in our attempted suicide genome-wide association study, with association support seen primarily in females. Recent evidence has also shown that glutamatergic signaling is partly regulated by sex-related hormones. The LRRTM gene family encodes neuronal leucine-rich transmembrane proteins that localize to and promote glutamatergic synapse development. In this study, we sequenced the coding and regulatory regions of all four LRRTM gene members plus a large intronic region of LRRTM4 in 476 bipolar disorder suicide attempters and 473 bipolar disorder nonattempters. We identified two male-specific variants, one female- and five male-specific haplotypes significantly associated with attempted suicide in LRRTM4. Furthermore, variants within significant haplotypes may be brain expression quantitative trait loci for LRRTM4 and some of these variants overlap with predicted hormone response elements. Overall, these results provide supporting evidence for a sex-specific association of genetic variation in LRRTM4 with attempted suicide.
谷氨酸能信号传导是大脑中的主要兴奋性神经传递途径,其与神经精神疾病的关系备受关注。我们之前的自杀全基因组关联研究,以及众多调查基因表达、遗传变异和DNA甲基化的研究均表明,谷氨酸能信号传导异常与自杀风险有关。谷氨酸能通路基因LRRTM4是我们自杀全基因组关联研究中确定的一个相关基因,主要在女性中发现有相关性支持。最近的证据还表明,谷氨酸能信号传导部分受性激素调节。LRRTM基因家族编码富含亮氨酸的神经元跨膜蛋白,这些蛋白定位于谷氨酸能突触并促进其发育。在本研究中,我们对476例双相情感障碍自杀未遂者和473例双相情感障碍未自杀者的所有四个LRRTM基因成员的编码和调控区域,以及LRRTM4的一个大的内含子区域进行了测序。我们在LRRTM4中鉴定出两个男性特异性变体、一个女性特异性和五个男性特异性单倍型与自杀未遂显著相关。此外,显著单倍型内的变体可能是LRRTM4的脑表达数量性状位点,其中一些变体与预测的激素反应元件重叠。总体而言,这些结果为LRRTM4基因变异与自杀未遂的性别特异性关联提供了支持证据。