Association analysis of the pituitary adenylate cyclase-activating polypeptide (PACAP/ADCYAP1) gene in bipolar disorder.
Association analysis of the pituitary adenylate cyclase-activating polypeptide (PACAP/ADCYAP1) gene in bipolar disorder.
复制标题
双相情感障碍垂体腺苷酸环化酶激活多肽（PACAP/ADCYAP1）基因的关联分析。
DOI：
10.1097/ypg.0b013e3282f60320
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发表时间：
2008
影响因子：
0.9
通讯作者：
Berrettini,WadeH
中科院分区：
文献类型：
--
作者：
Lohoff,FalkW;Bloch,PaulJ;Weller,AndrewE;Ferraro,ThomasN;Berrettini,WadeH
背景：双相情感障碍（BPD）的连锁研究表明，18p11染色体上存在一个易感位点。垂体腺苷酸环化酶激活多肽/腺苷酸环化酶激活多肽1（垂体）（PACAP/ADCYAP1）基因定位于该区域。PACAP是一种参与周围神经系统和中枢神经系统神经传递的神经肽，是儿茶酚胺分泌所必需的。PACAP突变的动物模型显示出显著的行为缺陷，包括多动症和探索性行为增加。目的验证人类PACAP基因变异与BPD有关的假说。方法对BPD患者（n= 570）和健康对照（n= 710）的7个单核苷酸多态性（rs1893154、rs2846811、rs8192595、rs2856966、rs928978、rs2231187、rs1610037）进行基因分型。采用χ 2权变分析比较各组间基因型和等位基因频率。计算标记间的连锁不平衡，并比较各组间估计的单倍型频率。
BackgroundLinkage studies in bipolar disorder (BPD) suggest that a susceptibility locus exists on chromosome 18p11. The pituitary adenylate cyclase-activating polypeptide/adenylate cyclase-activating polypeptide 1 (pituitary)(PACAP/ADCYAP1) gene maps to this region. PACAP is a neuropeptide involved in neurotransmission in both the peripheral nervous system and central nervous system and is required for catecholamine secretion. Animal models of PACAP mutations show remarkable behavioral defects, including hyperactivity and increased exploratory behavior.ObjectiveIn this study we tested the hypothesis that genetic variations in the human PACAP gene contribute to BPD.MethodsGenotyping of seven single nucleotide polymorphisms (rs1893154; rs2846811; rs8192595; rs2856966; rs928978; rs2231187; rs1610037) was performed in BPD patients (n= 570) and healthy controls (n= 710). Genotypes and allele frequencies were compared between groups using χ 2 contingency analysis. Linkage disequilibrium between markers was calculated and estimated haplotype frequencies were compared between groups.