Korostishevsky M, Kremer I, Kaganovich M, Cholostoy A, Murad I, Muhaheed M, Bannoura I, Rietschel M, Dobrusin M, Bening-Abu-Shach U, Belmaker R H, Maier W, Ebstein R P, Navon Ruth
Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel 69978.
Am J Med Genet B Neuropsychiatr Genet. 2006 Jan 5;141B(1):91-5. doi: 10.1002/ajmg.b.30212.
Association of the G72/G30 locus with schizophrenia was recently reported in French Canadian, Russian, and Ashkenazi populations using case-control studies. In the present study we hypothesize the existence of a G72/G30 risk allele over-transmitted to affected sibs in Palestinian Arab families. A total of 223 Palestinian Arab families that included an affected offspring and parents were genotyped with 11 SNPs encompassing the G72/G30 genes. The families were recruited from three regions of Israel: 56 from the North (Afula), 136 from the central hill region (Bethlehem, Palestinian Authority), and 31 from the South (Beersheva). Individual SNP analyses disclosed a risk allele in SNP rs3916970 by both haplotype relative risk (HRR: chi(2) = 5.59, P = 0.018) and transmission disequilibrium test (TDT: chi(2) = 6.03, P = 0.014) in the Afula families. Follow-up multilocus analysis using family-based association tests (FBAT: z = 2.197, P = 0.028) exposed the adjacent haplotype. SNP rs3916970 is located about 8 kb from the linkage disequilibrium block that was reported to be associated with schizophrenia in Ashkenazi Jews. Excess of similar haplotypes of this region was observed in the Palestinian Arabs and the Ashkenazi patients. These data suggest a common risk factor for schizophrenia susceptibility in the G72/G30 locus among Ashkenazi Jews and Palestinian Arabs. The results strengthen previous reports on the role of this locus in the etiology of schizophrenia.
最近在法裔加拿大人、俄罗斯人和德系犹太人人群中开展的病例对照研究报告了G72/G30基因座与精神分裂症的关联。在本研究中，我们假设在巴勒斯坦阿拉伯家庭中存在一个向患病同胞过度传递的G72/G30风险等位基因。对总共223个包含患病后代及其父母的巴勒斯坦阿拉伯家庭进行了基因分型，使用了涵盖G72/G30基因的11个单核苷酸多态性（SNP）。这些家庭来自以色列的三个地区：北部（阿富拉）的56个家庭、中部山区（巴勒斯坦权力机构伯利恒）的136个家庭以及南部（贝尔谢巴）的31个家庭。单SNP分析显示，在阿富拉家庭中，单倍型相对风险（HRR：χ² = 5.59，P = 0.018）和传递不平衡检验（TDT：χ² = 6.03，P = 0.014）均表明SNP rs3916970存在风险等位基因。使用基于家系的关联检验（FBAT：z = 2.197，P = 0.028）进行的后续多位点分析揭示了相邻单倍型。SNP rs3916970位于据报道与德系犹太人群体中精神分裂症相关的连锁不平衡区域约8 kb处。在巴勒斯坦阿拉伯人和德系犹太患者中观察到该区域相似单倍型的过量。这些数据表明，在德系犹太人和巴勒斯坦阿拉伯人中，G72/G30基因座存在精神分裂症易感性的共同风险因素。这些结果强化了先前关于该基因座在精神分裂症病因学中作用的报告。
