Gratacòs Mònica, Costas Javier, de Cid Rafael, Bayés Mònica, González Juan R, Baca-García Enrique, de Diego Yolanda, Fernández-Aranda Fernando, Fernández-Piqueras José, Guitart Miriam, Martín-Santos Rocío, Martorell Lourdes, Menchón José M, Roca Miquel, Sáiz-Ruiz Jerónimo, Sanjuán Julio, Torrens Marta, Urretavizcaya Mikel, Valero Joaquín, Vilella Elisabet, Estivill Xavier, Carracedo Angel
CIBER en Epidemiología y Salud Pública (CIBERESP), Instituto de Salud Carlos III, Madrid, Spain.
Am J Med Genet B Neuropsychiatr Genet. 2009 Sep 5;150B(6):808-16. doi: 10.1002/ajmg.b.30902.
A fundamental difficulty in human genetics research is the identification of the spectrum of genetic variants that contribute to the susceptibility to common/complex disorders. We tested here the hypothesis that functional genetic variants may confer susceptibility to several related common disorders. We analyzed five main psychiatric diagnostic categories (substance-abuse, anxiety, eating, psychotic, and mood disorders) and two different control groups, representing a total of 3,214 samples, for 748 promoter and non-synonymous single nucleotide polymorphisms (SNPs) at 306 genes involved in neurotransmission and/or neurodevelopment. We identified strong associations to individual disorders, such as growth hormone releasing hormone (GHRH) with anxiety disorders, prolactin regulatory element (PREB) with eating disorders, ionotropic kainate glutamate receptor 5 (GRIK5) with bipolar disorder and several SNPs associated to several disorders, that may represent individual and related disease susceptibility factors. Remarkably, a functional SNP, rs945032, located in the promoter region of the bradykinin receptor B2 gene (BDKRB2) was associated to three disorders (panic disorder, substance abuse, and bipolar disorder), and two additional BDKRB2 SNPs to obsessive-compulsive disorder and major depression, providing evidence for common variants of susceptibility to several related psychiatric disorders. The association of BDKRB2 (odd ratios between 1.65 and 3.06) to several psychiatric disorders supports the view that a common genetic variant could confer susceptibility to clinically related phenotypes, and defines a new functional hint in the pathophysiology of psychiatric diseases.
人类遗传学研究中的一个基本难题是确定导致常见/复杂疾病易感性的基因变异谱。我们在此检验了一个假设,即功能性基因变异可能使个体易患几种相关的常见疾病。我们分析了五个主要的精神科诊断类别(物质滥用、焦虑症、饮食失调、精神病性障碍和情绪障碍)以及两个不同的对照组,共3214个样本,检测了306个参与神经传递和/或神经发育的基因中的748个启动子和非同义单核苷酸多态性(SNP)。我们发现了与个别疾病的强关联,例如生长激素释放激素(GHRH)与焦虑症、催乳素调节元件(PREB)与饮食失调、离子型红藻氨酸谷氨酸受体5(GRIK5)与双相情感障碍,以及一些与多种疾病相关的SNP,这些可能代表个体和相关疾病的易感性因素。值得注意的是,位于缓激肽受体B2基因(BDKRB2)启动子区域的一个功能性SNP rs945032与三种疾病(惊恐障碍、物质滥用和双相情感障碍)相关,另外两个BDKRB2 SNP与强迫症和重度抑郁症相关,这为几种相关精神疾病的共同易感性变异提供了证据。BDKRB2与几种精神疾病的关联(比值比在1.65至3.06之间)支持了一种观点,即一个常见的基因变异可能使个体易患临床相关的表型,并为精神疾病的病理生理学定义了一个新的功能线索。