Vierimaa Outi, Georgitsi Marianthi, Lehtonen Rainer, Vahteristo Pia, Kokko Antti, Raitila Anniina, Tuppurainen Karoliina, Ebeling Tapani M L, Salmela Pasi I, Paschke Ralf, Gündogdu Sadi, De Menis Ernesto, Mäkinen Markus J, Launonen Virpi, Karhu Auli, Aaltonen Lauri A
Department of Clinical Genetics, Oulu University Hospital, 90029 Oulu, Finland.
Science. 2006 May 26;312(5777):1228-30. doi: 10.1126/science.1126100.
Pituitary adenomas are common in the general population, and understanding their molecular basis is of great interest. Combining chip-based technologies with genealogy data, we identified germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene in individuals with pituitary adenoma predisposition (PAP). AIP acts in cytoplasmic retention of the latent form of the aryl hydrocarbon receptor and also has other functions. In a population-based series from Northern Finland, two AIP mutations account for 16% of all patients diagnosed with pituitary adenomas secreting growth hormone and for 40% of the subset of patients who were diagnosed when they were younger than 35 years of age. Typically, PAP patients do not display a strong family history of pituitary adenoma; thus, AIP is an example of a low-penetrance tumor susceptibility gene.
垂体腺瘤在普通人群中很常见，了解其分子基础具有重要意义。我们将基于芯片的技术与系谱数据相结合，在垂体腺瘤易感性（PAP）个体中鉴定出芳烃受体相互作用蛋白（AIP）基因的种系突变。AIP作用于芳烃受体潜伏形式的细胞质保留，并且还具有其他功能。在芬兰北部基于人群的系列研究中，两个AIP突变占所有诊断为分泌生长激素的垂体腺瘤患者的16%，占35岁以下诊断患者亚组的40%。通常，PAP患者没有明显的垂体腺瘤家族病史；因此，AIP是低外显率肿瘤易感基因的一个例子。
