Kaufmann C A, Suarez B, Malaspina D, Pepple J, Svrakic D, Markel P D, Meyer J, Zambuto C T, Schmitt K, Matise T C, Harkavy Friedman J M, Hampe C, Lee H, Shore D, Wynne D, Faraone S V, Tsuang M T, Cloninger C R
College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.
Am J Med Genet. 1998 Jul 10;81(4):282-9.
The NIMH Genetics Initiative is a multi-site collaborative study designed to create a national resource for genetic studies of complex neuropsychiatric disorders. Schizophrenia pedigrees have been collected at three sites: Washington University, Columbia University, and Harvard University. This article-one in a series that describes the results of a genome-wide scan with 459 short-tandem repeat (STR) markers for susceptibility loci in the NIMH Genetics Initiative schizophrenia sample-presents results for African-American pedigrees. The African-American sample comprises 30 nuclear families and 98 subjects. Seventy-nine of the family members were considered affected by virtue of having received a DSMIII-R diagnosis of schizophrenia (n = 71) or schizoaffective disorder, depressed (n = 8). The families contained a total of 42 independent sib pairs. While no region demonstrated evidence of significant linkage using the criteria suggested by Lander and Kruglyak, several regions, including chromosomes 6q16-6q24, 8pter-8q12, 9q32-9q34, and 15p13-15q12, showed evidence consistent with linkage (P = 0.01-0.05), providing independent support of findings reported in other studies. Moreover, the fact that different genetic loci were identified in this and in the European-American samples, lends credence to the notion that these genetic differences together with differences in environmental exposures may contribute to the reported differences in disease prevalence, severity, comorbidity, and course that has been observed in different racial groups in the United States and elsewhere.
美国国立精神卫生研究所遗传学倡议项目是一项多中心合作研究，旨在创建一个全国性资源，用于复杂神经精神疾病的遗传学研究。已在三个地点收集了精神分裂症家系：华盛顿大学、哥伦比亚大学和哈佛大学。本文是系列文章之一，描述了在美国国立精神卫生研究所遗传学倡议项目精神分裂症样本中，使用459个短串联重复序列（STR）标记进行全基因组扫描以寻找易感基因座的结果，呈现了非裔美国家系的研究结果。非裔美国人样本包括30个核心家庭和98名受试者。其中79名家庭成员因被诊断为精神分裂症（n = 71）或精神分裂症伴抑郁型情感障碍（n = 8）而被视为患病。这些家庭总共包含42对独立的同胞对。虽然按照兰德和克鲁格利亚克提出的标准，没有任何区域显示出显著连锁的证据，但包括6号染色体q16 - 6q24、8号染色体pter - 8q12、9号染色体q32 - 9q34和15号染色体p13 - 15q12在内的几个区域，显示出与连锁一致的证据（P = 0.01 - 0.05），为其他研究报告的结果提供了独立支持。此外，在这个样本和欧裔美国人样本中发现了不同的基因座，这一事实支持了以下观点：这些基因差异以及环境暴露差异，可能导致了在美国和其他地区不同种族群体中观察到的疾病患病率、严重程度、共病情况和病程方面的差异。
