Environmental and genetic factors in Parkinsons disease

描述(申请人摘要)：帕金森病是一种神经退行性疾病，其发病率和患病率随着年龄的增长而增加。大多数病例的症状出现在60岁之后。来自双生子、家庭和流行病学研究的证据表明，帕金森病的病因是由遗传和环境因素组成的多因素病因。疾病的家族聚集性和帕金森病患者兄弟姐妹复发风险的增加支持了发生帕金森病的遗传易感性。此外，一种罕见的早发性家族性帕金森病是由？-突触核蛋白基因突变引起的。这些突变在多发性帕金森病患者的一小部分家庭中被发现，因此其他帕金森氏病基因可能仍有待发现。据报道，年龄增长、吸烟、使用杀虫剂、接触重金属和居住在农村都是帕金森病的潜在危险因素。只有与年龄增长的关联在研究中是一致的。环境因素对帕金森病发病风险影响的差异可能是由于遗传易感性的差异。因此，剖析帕金森病的复杂病因需要一种综合的方法，联合评估遗传和环境暴露。

Description (Applicant's Abstract): PD is a neurodegenerative disorder for which incidence and prevalence increase with age. Onset of symptoms for the majority of cases occurs after age 60. Evidence from twin, family and epidemiologic studies suggests a multifactorial etiology for PD comprised of genetic and environmental factors. Familial aggregation of the disease and an increased recurrence risk to siblings of people with PD supports a genetic susceptiblity to developing PD. As well, a rare form of early onset familial PD is caused by mutations in the ?-Synuclein gene. These mutations are found in a small fraction of families with multiple cases of PD, and therefore other PD genes likely remain to be discovered. Increasing age, smoking tobacco, pesticide use, heavy metals exposure, and rural residence have all been reported as potential risk factors for PD. Only the association with increasing age is consistent across studies. Variation in the effects of environmental factors on risk of PD may be due to differences in genetic susceptibility. Thus, dissecting the complex etiology of PD requires a comprehensive approach, jointly evaluating both genetic and environmental exposures.