Shifman Sagiv, Bronstein Michal, Sternfeld Meira, Pisanté Anne, Weizman Avraham, Reznik Ilya, Spivak Baruch, Grisaru Nimrod, Karp Leon, Schiffer Richard, Kotler Moshe, Strous Rael D, Swartz-Vanetik Marnina, Knobler Haim Y, Shinar Eilat, Yakir Benjamin, Zak Naomi B, Darvasi Ariel
Institute of Life Sciences, The Hebrew University of Jerusalem, Jerusalem 91904, Israel.
Am J Med Genet B Neuropsychiatr Genet. 2004 Jul 1;128B(1):61-4. doi: 10.1002/ajmg.b.30032.
A variety of psychiatric illnesses, including schizophrenia and bipolar disorder, have been reported in patients with microdeletion on chromosome 22q11-a region which includes the catechol-O-methyltransferase (COMT) gene. The variety of psychiatric manifestations in patients with the 22q11 microdeletion and the role of COMT in the degradation of catecholamine neurotransmitters may thus suggest a general involvement of the COMT gene in psychiatric diseases. We have previously reported on a significant association between a COMT haplotype and schizophrenia. In this study, we attempt to test for association between bipolar disorder and the polymorphisms implicated in schizophrenia. The association between COMT and bipolar disorder was tested by examining the allele and haplotype found to be associated with schizophrenia. A significant association between bipolar disorder and COMT polymorphisms was found. The estimated relative risk is greater in women, a result consistent with our previous findings in schizophrenia. We suggest that polymorphisms in the COMT gene may influence susceptibility to both diseases--and probably also a wider range of behavioral traits.
据报道，包括精神分裂症和双相情感障碍在内的多种精神疾病，出现在22q11染色体微缺失的患者中，该区域包含儿茶酚-O-甲基转移酶（COMT）基因。22q11微缺失患者的多种精神症状表现以及COMT在儿茶酚胺神经递质降解中的作用，可能表明COMT基因普遍参与精神疾病。我们之前报道过一种COMT单倍型与精神分裂症之间存在显著关联。在本研究中，我们试图检测双相情感障碍与涉及精神分裂症的多态性之间的关联。通过检查发现与精神分裂症相关的等位基因和单倍型，来检测COMT与双相情感障碍之间的关联。结果发现双相情感障碍与COMT多态性之间存在显著关联。女性的估计相对风险更高，这一结果与我们之前在精神分裂症研究中的发现一致。我们认为，COMT基因中的多态性可能影响对这两种疾病的易感性，并且可能还影响更广泛的行为特征。
