State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China.
Mol Hum Reprod. 2012 Dec;18(12):599-604. doi: 10.1093/molehr/gas033. Epub 2012 Aug 14.
Recently, it has been shown that ectopic expression of several germ line genes, such as piwi, vasa, nos and aub, drives the growth of malignant brain tumors in Drosophila. A genome-wide association study (GWAS) of ~18 000 subjects indicated that genetic variation at 22q12.2, the location of the conserved meiotic gene HORMAD2, may contribute to the risk of lung cancer in Han Chinese individuals. The expression pattern of human HORMAD2 in multiple human tissues was determined by RT-PCR. HORMAD2 protein expression and localization were analyzed in the human testis using immunohistochemistry. The expression of HORMAD2 in lung cancer and normal tissues was studied using quantitative RT-PCR and immunohistochemistry. HORMAD2 is predominantly expressed in human testis and weakly expressed in liver. HORMAD2 is ectopically expressed in nearly 10% of lung cancer samples from Chinese Han individuals. In conclusion, HORMAD2 is a novel cancer/testis gene discovered by GWAS, which may provide a new target for lung cancer research.
最近的研究表明，几个生殖系基因（如 piwi、vasa、nos 和 aub）的异位表达可导致果蝇恶性脑肿瘤的生长。对约 18000 名受试者的全基因组关联研究（GWAS）表明，位于保守减数分裂基因 HORMAD2 位置的 22q12.2 上的遗传变异可能会增加汉族个体患肺癌的风险。通过 RT-PCR 确定了人类 HORMAD2 在多种人类组织中的表达模式。使用免疫组织化学分析了人睾丸中 HORMAD2 蛋白的表达和定位。使用定量 RT-PCR 和免疫组织化学研究了 HORMAD2 在肺癌和正常组织中的表达。HORMAD2 主要在人睾丸中表达，在肝脏中表达较弱。HORMAD2 在近 10%的中国汉族肺癌样本中异位表达。总之，HORMAD2 是通过 GWAS 发现的一种新的癌症/睾丸基因，可能为肺癌研究提供新的靶点。
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