Comings D E, Gade-Andavolu R, Gonzalez N, Blake H, Wu S, MacMurray J P
Department of Medical Genetics, City of Hope Medical Center, Duarte, CA 91010, USA.
Clin Genet. 1999 Mar;55(3):160-72. doi: 10.1034/j.1399-0004.1999.550304.x.
Halperin et al. (Halperin JM. Newcorn JH, Koda VH, Pick L, McKay KE, Knott P. Noradrenergic mechanisms in ADHD children with and without reading disabilities: a replication and extension. J Am Acad Child Adolesc Psychiatry 1997: 36: 1688 1696) reported a significant increase in plasma norepinephrine (NE) in attention-deficit hyperactivity disorder (ADHD) children with reading and other cognitive disabilities compared to ADHD children without learning disabilities (LD). We examined the hypothesis that ADHD + LD was associated with NE dysfunction at a molecular genetic level by testing for associations and additive effects between polymorphisms at three noradrenergic genes the adrenergic alpha2A receptor (ADRA2A), adrenergic alpha2C receptor (ADRA2C), and dopamine beta-hydroxylase (DBH) genes. A total of 336 subjects consisting of 274 individuals with Tourette syndrome (TS) and 62 normal controls were genotyped. Regression analysis showed a significant correlation between scores for ADHD, a history of LD, and poor grade-school academic performance that was greatest for the additive effect of all three genes. Combined, these three genes accounted for 3.5% of the variance of the ADHD score (p = 0.0005). There was a significant increase in the number of variant NE genes progressing from subjects without ADHD (A-) or learning disorders (LD-) to A + LD - to A - LD + to A + LD + (p = 0.0017), but no comparable effect for dopamine genes. These data support an association between NE genes and ADHD, especially in ADHD + LD subjects.
哈尔珀林等人(哈尔珀林·J·M、纽科恩·J·H、科达·V·H、皮克·L、麦凯·K·E、诺特·P。有和没有阅读障碍的多动症儿童的去甲肾上腺素能机制:一项重复和扩展研究。《美国儿童与青少年精神病学杂志》1997年;36: 1688 - 1696)报告称,与没有学习障碍(LD)的多动症儿童相比,患有阅读和其他认知障碍的注意力缺陷多动障碍(ADHD)儿童血浆去甲肾上腺素(NE)显著增加。我们通过检测三个去甲肾上腺素能基因——肾上腺素能α2A受体(ADRA2A)、肾上腺素能α2C受体(ADRA2C)和多巴胺β羟化酶(DBH)基因——的多态性之间的关联和加性效应,检验了ADHD + LD与分子遗传水平上NE功能障碍相关的假设。对总共336名受试者进行了基因分型,其中包括274名患有抽动秽语综合征(TS)的个体和62名正常对照。回归分析显示,ADHD得分、LD病史和小学学业成绩差之间存在显著相关性,这在所有三个基因的加性效应中最为明显。这三个基因共同解释了ADHD得分方差的3.5%(p = 0.0005)。从没有ADHD(A -)或学习障碍(LD -)的受试者到A + LD -到A - LD +再到A + LD +,变异NE基因的数量显著增加(p = 0.0017),但多巴胺基因没有类似的效应。这些数据支持NE基因与ADHD之间的关联,尤其是在ADHD + LD受试者中。