KELOIDS: EPIDEMIOLOGIC AND GENETIC STUDIES

这个子项目是许多利用 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 这项提议， 瘢痕疙瘩：流行病学和遗传学研究， 将对瘢痕疙瘩进行一项新的遗传流行病学研究，瘢痕疙瘩影响着美国一千多万患者。据报道，深肤色种族群体的瘢痕疙瘩发生率高于浅肤色人群，黑人与白人的比例为2：1，白色为19：1。 尽管这种全球性的健康差异困扰着30%的美国人，即近7500万人，但缺乏对瘢痕疙瘩的遗传流行病学研究。 据报道，瘢痕疙瘩是家族性和散发性的，家族遗传率为1.9%至3.4%。 然而，在King/Drew医学中心的皮肤科诊所，根据在12个月时间内访问诊所的80名患者的调查，遗传病例的数量似乎更高（Kelly et al，2005）。我们推测，环境和遗传危险因素与瘢痕疙瘩形成的发病率较高，在这一患者群体。因此，提出了以下具体目标： 目标1：确定瘢痕疙瘩风险因素，包括共同的环境暴露（如吸烟、饮食、饮酒等）和临床测量[如体重指数（BMI）、血压（BP）、年龄、性别等]。 目的2：确定家族性瘢痕疙瘩的遗传危险因素。 将对所有瘢痕疙瘩患者及其尽可能多的瘢痕疙瘩家庭成员进行一系列具有适当标准化的深入流行病学调查。 将在临床研究中心的一次访视中收集患者数据，包括访谈（问卷）、体格检查和临床实验室测量。遗传学和流行病学方法将被用来评估瘢痕疙瘩的家族聚集性。如果患者同意，也将对临床获得的组织活检进行评价。共同环境暴露的影响（例如，吸烟、饮食、酒精摄入和身体活动）和临床测量（例如，BMI、BP、年龄、性别等）进行分析，以确定相关的风险因素。这项研究的结果不仅可以改善瘢痕疙瘩的预防和治疗，而且还将创造一个独特的窗口，提供有关伤口愈合和纤维化疾病的更明确的信息。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. This proposal, Keloids: Epidemiologic and Genetic Studies, would conduct a novel genetic epidemiology study on keloids, which affect more than ten million patients in America. Dark-skinned ethnic groups have been reported to develop keloids at a higher incidence rate than light-skinned populations, ranging from 2:1 for black versus 19:1 for white. Despite this worldwide health disparity, which afflicts 30 percent of Americans, or nearly 75 million people, a genetic epidemiology study on keloids is lacking. Keloids have been reported to be both familial and sporadic, with familial inheritance ranging from 1.9 percent to 3.4 percent. However, in the dermatology clinic at King/Drew Medical Center, the number of genetic cases seems higher, according to a survey of 80 patients who visited the clinic in a 12-month timeframe (Kelly et al, 2005). We hypothesize that environmental and genetic risk factors are associated with a higher incidence rate of keloid formation in this patient population. As such, the following specific aims are proposed: Aim 1: To identify keloid risk factors including shared environmental exposures (e.g. smoking, diet, alcohol intake, etc) and clinical measures [e.g. body mass index (BMI), blood pressure (BP), age, sex, etc]. Aim 2: To identify the genetic risk factors for familial keloids. A series of in depth epidemiologic surveys with appropriate standardization will be conducted on all keloid patients and as many of their family members with keloids as possible. Data on the patients will be collected in one visit to the Clinical Research Center, consisting of an interview (questionnaires), a physical examination, and clinical laboratory measures. Genetic and epidemiological methods will be used to evaluate the familial aggregation of keloids. When available, clinically obtained tissue biopsies will also be evaluated if the patients give their consent. The effects of shared environmental exposures (e.g., smoking, diet, alcohol intake and physical activity) and clinical measures (e.g., BMI, BP, age, sex, etc) will be analyzed to identify associated risk factors. The results of this study should not only lead to improved prevention and therapy for keloids, but also will create a unique window to provide more definitive information about wound healing and fibrosing diseases.