ANDROGEN GENE RECEPTOR POLYMORPHIMSMS AND AUTOIMMUNITY

描述（改编自申请人的摘要）：总体目标 这项申请的小额研究补助金是为了阐明额外的 解释与性别相关的狼疮过度风险的遗传因素 和种族。 第一个具体目标是确定雄激素受体 (AR)基因多态性与系统性狼疮的风险有关 红斑性狼疮（SLE）。 调查人员将检验以下假设： 雄激素受体（AR）基因赋予SLE的易感性， 单独的x-失活或与母体x-传播结合 变形在狼疮家族中更常见。 第二个具体目标是 确定AR基因多态性是否与对 弱雄激素DHEA。 研究者将检验以下假设： 基因调节对DHEA的反应，AR基因型与 雌二醇代谢的变化。 首席研究员是帕特里夏弗雷泽，医学博士，助理教授， 医学在哈佛医学院和项目主任的青少年和 布里格姆关节炎中心的青少年流变学项目。 罗伯特 Lahita，医学博士，哲学博士、副教授兼教育学系主任 哥伦比亚大学的流变学研究所将提供样本。 大卫宾， 哲学博士、波士顿CRB实验室的临床研究测试总监， 合作进行数据分析。

DESCRIPTION (adapted from the applicant's abstract): The overall objective of this application for a Small Research Grant is to elucidate additional genetic factors that explain the excess risk of lupus associated with gender and ethnicity. The first specific aim is to determine if androgen receptor (AR) gene polymorphisms are associated with a risk for systemic lupus erythematosus (SLE). The investigator will test the hypotheses that the androgen receptor (AR) gene confers susceptibility to SLE and that nonrandom x-inactivation alone or in combination with maternal x transmission distortion is more common in lupus families. The second specific aim is to determine if AR gene polymorphisms are associated with the response to the weak androgen DHEA. The investigator will test the hypotheses that the AR gene modulates the response to DHEA and that the AR genotype is associated with variation in estradiol metabolism. The principal investigator is Patricia Fraser, M.D, Assistant Professor of Medicine at Harvard Medical School and Program Director of the Juvenile and Adolescent Rheumatology Program at the Brigham Arthritis Center. Robert Lahita, M.D., Ph.D., Associate Professor and Chief of the Division of Rheumatology at Columbia University, will provide samples. David Bing, Ph.D., Director of Clinical Research Testing at CRB Labs in Boston, will collaborate in data analysis.