Single Nucleotide Polymorphisms In Intraocular Lymphoma

没有已知的潜在遗传缺陷使患者易患原发性眼内淋巴瘤（PIOL）。发现易患PIOL的遗传因素将有利于PIOL的早期诊断、预后分期和开发新的治疗方法。直到最近，研究癌症病因的遗传方法一直依赖于利用基于传统孟德尔遗传模式的连锁的方法。许多疾病可能是多种遗传因素的结果，因此不太适合使用传统的连锁分析和定位克隆方法来分离单个基因。单核苷酸多态性（SNP）是人类基因组中最常见的变异来源。SNP是DNA序列中的单碱基差异，可以在群体中的个体之间观察到。SNP是基于一个或多个群体中至少1%的患病率的频率来定义的。SNP以1/1000碱基对的平均频率存在于整个基因组中。我们建议分析频率的SNP特异性内的编码框架的生物学上合理的基因负责先天免疫系统的功能。白细胞介素是一种特定的感兴趣的途径，因为先前的研究已经证明了PIOL患者的玻璃体液和脊髓液中白细胞介素10和6的比例紊乱，导致这些或其他白细胞介素的功能或表达改变可能允许这种罕见恶性肿瘤的发展。继续收集样本，但尚未取得结果。我们最近在NIH举办了一个关于这个主题的研讨会，我们计划联系参与者，以获得这种罕见肿瘤的标本。

There is no known underlying genetic defect predisposing patients to develop primary intraocular lymphoma (PIOL). Discovery of genetic factors predisposing to the development of PIOL would be of benefit for early diagnosis, prognostic staging, and development of novel treatments for PIOL. Until recently, genetic approaches to investigate the etiology of cancer have relied upon methods utilizing linkage based on traditional Mendelian inheritance patterns. It is probable that many diseases are a consequence of multiple genetic factors, and are therefore less amenable to study using traditional methods of linkage analysis and positional cloning to isolate single genes. Single nucleotide polymorphisms (SNPs) are the most common sources of variation in the human genome. SNPs are single-base differences in the DNA sequence that can be observed among individuals in a population. A SNP is defined on the basis of a frequency of at least 1% prevalence in one or more populations. SNPs are present throughout the genome at an average frequency of 1/1000 base pairs. We propose to analyze the frequency of SNPs specifically within the coding frames of biologically plausible genes responsible for function of the innate immune system. The interleukins are a specific pathway of interest because previous research has demonstrated derangements in the ratios of interleukins 10 and 6 in the vitreous humor and spinal fluid of patients with PIOL, leading to the hypothesis that altered function or expression of these or other interleukins could permit the development of this rare malignancy. Samples continue to be collected, but as no results have yet been obtained. We hosted a workshop on this subject at the NIH recently and we plan to contact participants to gain specimens for this rare tumor.