Buyske Steven, Bates Marsha E, Gharani Neda, Matise Tara C, Tischfield Jay A, Manowitz Paul
Department of Statistics, Rutgers University, Piscataway, NJ, USA.
Behav Genet. 2006 Jan;36(1):65-76. doi: 10.1007/s10519-005-9008-9. Epub 2005 Dec 10.
: Human cognition in normal and disease states is both environmentally and genetically mediated. Except for measures of language-specific abilities, however, few cognitive measures have been associated with specific genes or chromosomal regions. We performed genome-wide linkage analysis of five neuropsychological tests in the Collaborative Study on Genetics of Alcoholism sample. The sample included 1579 individuals (53% female, 76% White Non-Hispanic) in 217 families. There were 390 markers with mean inter-marker distance of 9.6 cM. Performance on the Digit Symbol Substitution Test, a component of the Wechsler Adult Intelligence Scale-R, showed significant linkage to 14q11.2 and suggestive linkage to 14q 24.2. This test of sustained visual attention also involves visual-motor coordination and executive functions. Performance on the WAIS-R Digit Span Test of immediate memory and mental flexibility showed suggestive linkage to 11q 25. Although the validity of these results beyond populations with a susceptibility for alcohol dependence is unclear, these results are among the first linkage results for non-language components of cognition.
人类在正常和疾病状态下的认知受到环境和基因的双重影响。然而,除了特定语言能力的测量指标外,很少有认知测量指标与特定基因或染色体区域相关联。我们在酒精中毒遗传学合作研究样本中对五项神经心理学测试进行了全基因组连锁分析。样本包括217个家庭中的1579名个体(53%为女性,76%为非西班牙裔白人)。共有390个标记,平均标记间距为9.6厘摩。韦氏成人智力量表修订版中的数字符号替换测试的表现,显示与14q11.2有显著连锁,与14q24.2有提示性连锁。这项持续视觉注意力测试还涉及视觉运动协调和执行功能。韦氏成人智力量表修订版即时记忆和心理灵活性数字广度测试的表现,显示与11q25有提示性连锁。尽管这些结果在易患酒精依赖症人群之外的有效性尚不清楚,但这些结果是认知非语言成分的首批连锁结果之一。