Urh K, Kunej T
Department of Animal Science, Biotechnical Faculty, University of Ljubljana, Domzale, Slovenia.
Andrology. 2016 Sep;4(5):894-902. doi: 10.1111/andr.12217. Epub 2016 Jul 1.
Cryptorchidism is a frequent urogenital abnormality that may be present at birth (congenital form) or develop later in life (acquired form). It represents 2-4% full-term male births. It has a potential effect on health; defects in testes descent usually cause impaired spermatogenesis resulting in reduced fertility and increased rates of testicular neoplasia, and testicular torsion. In our previous study, we developed a cryptorchidism gene database which consists of 217 genomic variations associated with development of cryptorchidism in seven mammalian species. The number of studies and study approaches in this field are increasing; therefore, update of the database was needed. The search of multi-omics data was performed and the updated database includes 280 genomic variations associated with cryptorchidism in seven species. The catalog has been complemented with additional data including: number of participants (patients/controls), race/ethnicity, clinical data (age period at diagnosis), congenital/acquired cryptorchidism, unilateral (left/right)/bilateral cryptorchidism, disease comorbidity, and disease ontology. Collected data revealed that cryptorchidism has been reported to be co-present with 150 comorbid conditions, including several syndromes, reproductive, cardiovascular, ophthalmologic, dermatologic, mental, and bone disorders, deafness, and cancer. However, updating the database is time-consuming because of the heterogeneity of results and methodology in scientific literature. The field lacks a standardized format for reporting associations between genotype and phenotype which would enable faster development of the database, data integration, sharing, and facilitate biomarker development. Therefore, in this study, we updated a database of cryptorchidism genes and suggested a first step toward standardization of the format for reporting results of original as well as review studies which we suggest implementing into the scientific literature that reports genotype-cryptorchidism associations.
隐睾症是一种常见的泌尿生殖系统异常，可在出生时出现（先天性形式）或在生命后期发展（后天性形式）。它占足月男性出生人数的2-4%。它对健康有潜在影响；睾丸下降缺陷通常会导致精子发生受损，从而导致生育能力下降、睾丸肿瘤发生率增加以及睾丸扭转。在我们之前的研究中，我们开发了一个隐睾症基因数据库，该数据库由与七种哺乳动物物种隐睾症发展相关的217个基因组变异组成。该领域的研究数量和研究方法正在增加；因此，需要更新数据库。我们进行了多组学数据搜索，更新后的数据库包含与七种物种隐睾症相关的280个基因组变异。该目录还补充了其他数据，包括：参与者数量（患者/对照）、种族/民族、临床数据（诊断时的年龄阶段）、先天性/后天性隐睾症、单侧（左/右）/双侧隐睾症、疾病合并症以及疾病本体。收集的数据显示，据报道隐睾症与150种合并症同时存在，包括几种综合征、生殖、心血管、眼科、皮肤科、精神和骨骼疾病、耳聋以及癌症。然而，由于科学文献中结果和方法的异质性，更新数据库很耗时。该领域缺乏一种用于报告基因型与表型之间关联的标准化格式，这将有助于更快地开发数据库、进行数据整合和共享，并促进生物标志物的开发。因此，在本研究中，我们更新了隐睾症基因数据库，并朝着标准化报告原始研究以及综述研究结果的格式迈出了第一步，我们建议将其应用于报告基因型与隐睾症关联的科学文献中。
