Kittles R A, Long J C, Bergen A W, Eggert M, Virkkunen M, Linnoila M, Goldman D
Section on Population Genetics and Linkage, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD. 20852, USA.
Proc Natl Acad Sci U S A. 1999 Mar 30;96(7):4204-9. doi: 10.1073/pnas.96.7.4204.
Association between Y chromosome haplotype variation and alcohol dependence and related personality traits was investigated in a large sample of psychiatrically diagnosed Finnish males. Haplotypes were constructed for 359 individuals using alleles at eight loci (seven microsatellite loci and a nucleotide substitution in the DYZ3 alphoid satellite locus). A cladogram linking the 102 observed haplotype configurations was constructed by using parsimony with a single-step mutation model. Then, a series of contingency tables nested according to the cladogram hierarchy were used to test for association between Y haplotype and alcohol dependence. Finally, using only alcohol-dependent subjects, we tested for association between Y haplotype and personality variables postulated to define subtypes of alcoholism-antisocial personality disorder, novelty seeking, harm avoidance, and reward dependence. Significant association with alcohol dependence was observed at three Y haplotype clades, with significance levels of P = 0.002, P = 0.020, and P = 0.010. Within alcohol-dependent subjects, no relationship was revealed between Y haplotype and antisocial personality disorder, novelty seeking, harm avoidance, or reward dependence. These results demonstrate, by using a fully objective association design, that differences among Y chromosomes contribute to variation in vulnerability to alcohol dependence. However, they do not demonstrate an association between Y haplotype and the personality variables thought to underlie the subtypes of alcoholism.
在一大群经精神科诊断的芬兰男性样本中，研究了Y染色体单倍型变异与酒精依赖及相关人格特质之间的关联。利用8个基因座（7个微卫星基因座和DYZ3α卫星基因座中的一个核苷酸替换）的等位基因，为359名个体构建了单倍型。通过使用简约法和单步突变模型，构建了一个连接102种观察到的单倍型构型的分支图。然后，根据分支图层次结构嵌套的一系列列联表，用于检验Y单倍型与酒精依赖之间的关联。最后，仅使用酒精依赖受试者，我们检验了Y单倍型与假定用于定义酒精中毒亚型的人格变量之间的关联——反社会人格障碍、寻求新奇、避免伤害和奖励依赖。在三个Y单倍型分支中观察到与酒精依赖有显著关联，显著性水平分别为P = 0.002、P = 0.020和P = 0.010。在酒精依赖受试者中，未发现Y单倍型与反社会人格障碍、寻求新奇、避免伤害或奖励依赖之间存在关联。这些结果通过使用完全客观的关联设计表明，Y染色体之间的差异导致了酒精依赖易感性的变化。然而，它们并未证明Y单倍型与被认为是酒精中毒亚型基础的人格变量之间存在关联。
