Escamilla M A, Ontiveros A, Nicolini H, Raventos H, Mendoza R, Medina R, Munoz R, Levinson D, Peralta J M, Dassori A, Almasy L
Department of Psychiatry, University of Texas Health Science Center at San Antonio (UTHSCSA), San Antonio, Texas, 78229-3900, USA.
Am J Med Genet B Neuropsychiatr Genet. 2007 Mar 5;144B(2):193-9. doi: 10.1002/ajmg.b.30411.
Schizophrenia is a complex psychiatric disorder, likely to be caused in part by multiple genes. In this study, linkage analyses were performed to identify chromosomal regions most likely to be associated with schizophrenia and psychosis in multiplex families of Mexican and Central American origin. Four hundred and fifty-nine individuals from 99 families, containing at least two siblings with hospital diagnoses of schizophrenia or schizoaffective disorder, were genotyped. Four hundred and four microsatellite markers were genotyped for all individuals and multipoint non-parametric linkage analyses were performed using broad (any psychosis) and narrow (schizophrenia and schizoaffective disorder) models. Under the broad model, three chromosomal regions (1pter-p36, 5q35, and 18p11) exhibited evidence of linkage with non-parametric lod (NPL) scores greater than 2.7 (equivalent to empirical P values of less than 0.001) with the peak multipoint NPL = 3.42 (empirical P value = 0.00003), meeting genomewide evidence for significant linkage in the 1pter-p36 region. Under the narrow model, the same three loci showed (non-significant) evidence of linkage. These linkage findings (1pter-p36, 18p11, and 5q35) highlight where genes for psychosis and schizophrenia are most likely to be found in persons of Mexican and Central American ancestry, and correspond to recent linkages of schizophrenia or psychosis in other populations which were formed in part from emigrants from the Spanish empire of the 15th and 16th centuries.
精神分裂症是一种复杂的精神障碍，可能部分由多个基因引起。在本研究中，进行了连锁分析，以确定在墨西哥和中美洲裔的多重家庭中最有可能与精神分裂症和精神病相关的染色体区域。对来自99个家庭的459名个体进行了基因分型，这些家庭中至少有两个兄弟姐妹被医院诊断为精神分裂症或分裂情感性障碍。对所有个体进行了404个微卫星标记的基因分型，并使用宽泛（任何精神病）和狭义（精神分裂症和分裂情感性障碍）模型进行了多点非参数连锁分析。在宽泛模型下，三个染色体区域（1pter - p36、5q35和18p11）显示出连锁证据，其非参数连锁值（NPL）得分大于2.7（相当于经验P值小于0.001），多点NPL峰值 = 3.42（经验P值 = 0.00003），满足全基因组范围内1pter - p36区域显著连锁的证据。在狭义模型下，相同的三个基因座显示出（不显著的）连锁证据。这些连锁发现（1pter - p36、18p11和5q35）突出了在墨西哥和中美洲血统的人群中最有可能发现精神病和精神分裂症基因的位置，并且与其他人群中精神分裂症或精神病的近期连锁情况相对应，这些人群部分是由15和16世纪西班牙帝国的移民组成的。
