Rommelse Nanda N J, Altink Marieke E, Arias-Vásquez Alejandro, Buschgens Cathelijne J M, Fliers Ellen, Faraone Stephen V, Buitelaar Jan K, Sergeant Joseph A, Oosterlaan Jaap, Franke Barbara
Department of Clinical Neuropsychology, VU University Amsterdam, Amsterdam, The Netherlands.
Am J Med Genet B Neuropsychiatr Genet. 2008 Dec 5;147B(8):1524-30. doi: 10.1002/ajmg.b.30845.
Attention-deficit/hyperactivity disorder (ADHD) is more common in boys than in girls. It has been hypothesized that this sex difference might be related to genes on the X-chromosome, like Monoamine Oxidase A (MAOA). Almost all studies on the role of MAOA in ADHD have focused predominantly on boys, making it unknown whether MAOA also has an effect on ADHD in girls, and few studies have investigated the relationship between MAOA and neuropsychological functioning, yet this may provide insight into the pathways leading from genotype to phenotype. The current study set out to examine the relationship between MAOA, ADHD, and neuropsychological functioning in both boys (265 boys with ADHD and 89 male non-affected siblings) and girls (85 girls with ADHD and 106 female non-affected siblings). A haplotype was used based on three single nucleotide polymorphisms (SNPs) (rs12843268, rs3027400, and rs1137070). Two haplotypes (GGC and ATT) captured 97% of the genetic variance in the investigated MAOA SNPs. The ATT haplotype was more common in non-affected siblings (P = 0.025), conferring a protective effect for ADHD in both boys and girls. The target and direction of the MAOA effect on neuropsychological functioning was different in boys and girls: The ATT haplotype was associated with poorer motor control in boys (P = 0.002), but with better visuo-spatial working memory in girls (P = 0.01). These findings suggest that the genetic and neuropsychological mechanisms underlying ADHD may be different in boys and girls and underline the importance of taking into account sex effects when studying ADHD.
注意缺陷多动障碍(ADHD)在男孩中比在女孩中更常见。据推测,这种性别差异可能与X染色体上的基因有关,如单胺氧化酶A(MAOA)。几乎所有关于MAOA在ADHD中作用的研究都主要集中在男孩身上,因此尚不清楚MAOA对女孩的ADHD是否也有影响,而且很少有研究调查MAOA与神经心理功能之间的关系,但这可能有助于深入了解从基因型到表型的途径。本研究旨在考察男孩(265名患有ADHD的男孩和89名未受影响的男性同胞)和女孩(85名患有ADHD的女孩和106名未受影响的女性同胞)中MAOA、ADHD和神经心理功能之间的关系。基于三个单核苷酸多态性(SNP)(rs12843268、rs3027400和rs1137070)使用了一种单倍型。两种单倍型(GGC和ATT)捕获了所研究的MAOA SNP中97%的遗传变异。ATT单倍型在未受影响的同胞中更常见(P = 0.025),对男孩和女孩的ADHD都有保护作用。MAOA对神经心理功能影响的靶点和方向在男孩和女孩中有所不同:ATT单倍型与男孩较差的运动控制相关(P = 0.002),但与女孩较好的视觉空间工作记忆相关(P = 0.01)。这些发现表明,ADHD潜在的遗传和神经心理机制在男孩和女孩中可能不同,并强调了在研究ADHD时考虑性别效应的重要性。