Identification of Single Nucleotide Polymorphisms in Can

一个人的遗传背景在他们对癌症的易感性，疾病进展和对治疗的反应中起着重要作用。遗传变异可以作为标志物来了解包括癌症和艾滋病在内的复杂疾病。雌激素受体基因（ESR1）的变异与乳腺癌风险降低有关，我们正在分析乳腺癌病例和对照组中50万个SNP的数据，以确定其他基因。TRIM5基因编码一种蛋白质，参与保护细胞免受HIV感染。我们已经确定了人类TRIM5基因的区域，这些区域似乎经历了选择，可能是对先前感染的反应。人类基因组中的其他TRIM家族序列似乎也被感染，并可能参与保护其他病毒的感染。从牛慢病毒序列中鉴定出在感染中起作用的牛TRIM5相关基因。通过研究补体B和C2（BF，C2）基因的变异，我们已经确定了该基因与年龄相关性黄斑变性（AMD）患者的相关性。AMD是老年人失明的主要原因，估计影响多达1000万美国人。通过检查BF和C2基因中的遗传变异，鉴定出显著保护性单倍型。补体途径在对癌症病原体的应答中是重要的。对先天免疫反应的这一重要组成部分的进一步研究可能会导致对人类疾病的深入了解。

A person's genetic background plays an important role in their susceptibility to cancer, disease progression, and response to therapy. Genetic variations can be used as markers to understand complex diseases including cancer and AIDS. Variants in the estrogen receptor gene (ESR1) are associated with a reduced risk of breast cancer, and we are analyzing data from 500,000 SNPs typed in breast cancer cases and controls to identify additional genes.The TRIM5 gene encodes a protein involved in the protection of cells from HIV infection. We have identified regions of the human TRIM5 gene that appear to have undergone selection, perhaps in response to previous infection. Other TRIM family sequences in the human genome also appear to have been infected and may be involved in the protection to infection by other viruses. A cow TRIM5-related gene was identified that plays role in infection from bovine lentivrus sequences. By studying variants in the complement B and C2 (BF, C2) genes we have identified association in this gene in patients with age-related macular degeneration (AMD). AMD is the leading cause of blindness in the elderly and is estimated to effect as many as of 10 million Americans. By examining the genetic variants in the BF and C2 genes significantly protective haplotypes were identified. The complement pathway is important in the response to pathogens causative for cancer. Further study of this important component of the innate immune response could lead to insight into human disease.