Li Wenjin, Ji Weidong, Li Zhiqiang, He Kuanjun, Wang Qingzhong, Chen Jianhua, Qiang Yu, Feng Guoyin, Li Xingwang, Shen Jiawei, Wen Zujia, Ji Jue, Shi Yongyong
Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, P.R. China; Bio-X Institutes, Key Laboratory of Social Cognitive and Behavioral Sciences, Shanghai Jiao Tong University, Shanghai, P.R. China; Institute of Neuropsychiatric Science and Systems Biological Medicine, Shanghai Jiao Tong University, Shanghai, P.R. China.
Am J Med Genet B Neuropsychiatr Genet. 2015 Mar;168B(2):144-9. doi: 10.1002/ajmg.b.32291. Epub 2015 Feb 5.
Schizophrenia (SCZ) and major depressive disorder (MDD) are two of the most common and severe mental disorders, the etiologies of which are not yet clearly elucidated. The ACSM1 gene has been identified as a susceptibility gene for SCZ in two previous genome-wide association studies (GWAS). ACSM1 catalyzes the activation of fatty acids and plays an important role in the metabolic system. Some evidence has suggested that ACSM1 contributes to a genetic risk for MDD. The present study aimed to evaluate the common genetic risk of the ACSM1 gene in these two disorders in the Han Chinese population. In total, 1235 patients with SCZ, 1045 patients with MDD and 1235 control subjects of Chinese origin were recruited. Six single nuclear polymorphisms (SNPs) in ACSM1 were genotyped to test their associations with SCZ and MDD. SNP rs163234 was found to be significantly associated with both SCZ (permutated Pallele=1.700×10(-3), OR=1.350 [95% CI=1.152-1.581]) and MDD (permutated Pallele=4.800×10(-3), OR=1.329 [95% CI=1.127-1.567]). SNP rs433598 showed a strong association with SCZ (permutated Pallele=4.300×10(-3), OR=1.303 [95% CI=1.117-1.520]). Haplotype analysis of the blocks containing the two positive markers also revealed a significant association. This is the first study to assess the possible association of the ACSM1 gene with a genetic susceptibility for MDD. Our data are the first to suggest a positive association of the ACSM1 gene with a genetic susceptibility for SCZ and MDD in the Han Chinese population.
精神分裂症(SCZ)和重度抑郁症(MDD)是两种最常见且严重的精神障碍,其病因尚未完全阐明。在之前的两项全基因组关联研究(GWAS)中,ACSM1基因已被确定为SCZ的一个易感基因。ACSM1催化脂肪酸的活化,在代谢系统中起重要作用。一些证据表明,ACSM1促成了MDD的遗传风险。本研究旨在评估ACSM1基因在汉族人群这两种疾病中的共同遗传风险。总共招募了1235例SCZ患者、1045例MDD患者和1235名中国汉族对照者。对ACSM1中的六个单核苷酸多态性(SNP)进行基因分型,以测试它们与SCZ和MDD的关联。发现SNP rs163234与SCZ(置换后的P等位基因=1.700×10⁻³,OR=1.350 [95% CI=1.152 - 1.581])和MDD(置换后的P等位基因=4.800×10⁻³,OR=1.329 [95% CI=1.127 - 1.567])均显著相关。SNP rs433598与SCZ有强关联(置换后的P等位基因=4.300×10⁻³,OR=1.303 [95% CI=1.117 - 1.520])。对包含这两个阳性标记的区域进行单倍型分析也显示出显著关联。这是第一项评估ACSM1基因与MDD遗传易感性可能关联的研究。我们的数据首次表明,在汉族人群中,ACSM1基因与SCZ和MDD的遗传易感性呈正相关。