Insights into Sickle Cell Trait and Sickle Cell Disease

目标： 镰状细胞特征（SCT）临床并发症的病理学回顾 目标1：对1970年1月至2010年1月期间发表的研究论文进行系统综述。 2011年12月关于SCT，以及2012-2014年更新文献的补充综述正在进行中。 报告螺旋CT与任何具有临床意义的疾病之间存在关联的原始研究文章由专家工作组进行审查。 目标：探索微生物和环境对镰状细胞病和腿部溃疡的影响 目的2：镰状细胞病腿部溃疡的研究正在进行中截至2016年9月1日，我们招募了90名研究参与者。 我们的目标是招募300名参与者。 我们将从总共60名患有溃疡（n=30）和没有腿部溃疡（n=30）的成年参与者中采集皮肤微生物组样本。在研究期间，将对总共多达40名研究受试者进行纵向采样。第二次采样将在首次采样后至少一个月进行。这将评估患者队列中微生物群落的纵向稳定性。此外，我们将比较先前发表的糖尿病足溃疡与SCD腿部溃疡的微生物组数据集，以确定不同溃疡中存在的微生物群落中存在的微生物特征（相似性或差异性），这可能在愈合过程中很重要。 目标3：我们将进行一项横断面研究，调查每个参与者的压力、社会功能、健康行为和生活质量指标，目的是确定可能影响镰状细胞病以及腿部溃疡形成和愈合的环境（即社会、身体和心理社会）因素。我们将招募另外140名成年SCD患者，他们将不进行微生物组分析，但将参与研究的所有其他组成部分。 目的4：我们将进行基因组测序，以寻求确定遗传修饰剂在有和无腿部溃疡患者中的作用。具体来说，我们将在参与者中进行外显子组、全基因组或靶向测序，以研究导致我们患者人群中腿部溃疡变异的遗传因素。

GOAL: SYSTEMATIC REVIEW OF CLINICAL COMPLICATIONS OF SICKLE CELL TRAIT (SCT) For Aim 1: A systematic review of published research articles between January 1970 and December 2011 on SCT, plus a supplemental review of literature updated for 2012-2014 is in progress. Original research articles that reported an association between SCT and any condition with clinical significance are reviewed by an expert working group. GOAL: EXPLORING THE MICROBIOME AND ENVIRONMENTAL CONTRIBUTIONS TO SICKLE CELL DISEASE AND LEG ULCERS Aim 2: The study of leg ulcers in sickle cell disease is ongoing As of September 1, 2016 we have recruited 90 study participants. Our goal is to recruit 300 participants. We will sample the skin microbiome from a total of 60 adult participants with ulcers (n=30) and without leg ulcers (n=30). A total of up to 40 study participants will be sampled longitudinally during the study. The second sampling will occur at least one month after the initial sampling. This will assess longitudinal stability of the microbial community in the patient cohort. Additionally, we will compare a previously published microbiome dataset from diabetic foot ulcers to SCD leg ulcers to identify microbial signatures (similarities or differences) that exist in the microbial communities present in the different ulcers, which may be important in the healing process. Aim 3: We will conduct a cross-sectional study to investigate, stress, social function, health behaviors, and quality of life indicators for each participant with the goal of identifying environmental (i.e. social, physical, and psychosocial) factors that may impact sickle cell disease and the formation and healing of leg ulcers. We will recruit an additional 140 adult SCD patients who will not have their microbiome analyzed but who will participate in all other components of the study. Aim 4: We will conduct genomic sequencing to seek to identify the role of genetic modifiers in patients with and without leg ulcers. Specifically, we will conduct exome, whole genome, or targeted sequencing in the participants to study the genetic factors responsible for variation in leg ulceration in our patient population.