Abstract Background: Parkinson's disease (PD) involves environmental risk and protective factors as well as genetic variance. Most of the research in genomics has been done in subjects of European ancestry leading to sampling bias and leaving Latin American populations underrepresented. Objective: We sought to phenotype and genotype Costa Rican PD cases and controls. Methods: We enrolled 118 PD patients with 97 unrelated controls. Collected information included demographics, exposure to risk and protective factors, motor and cognitive assessments. We sequenced coding and untranslated regions in familial PD and atypical parkinsonism-associated genes including GBA, SNCA, VPS35, LRRK2, GCH1, PRKN, PINK1, DJ-1, VPS13C, ATP13A2. Results: Mean age of PD probands was 62.12 ± 13.51 years, 57.6% were male. Prevalence of risk and protective factors reached 30%. Physical activity significantly correlated with better motor performance despite years of disease. Increased years of education were significantly associated with better cognitive function, whereas hallucinations, falls, mood disorders and coffee consumption correlated with worse cognitive performance. We did not identify an association between tested genes and PD or any damaging homozygous or compound heterozygous variants. Rare variants in LRRK2 were nominally associated with PD, six were located between amino acids p.1620-1623 in the C-terminal-of-ROC (COR) domain of LRRK2. Nonsynonymous GBA variants (p.T369M, p.N370S, p.L444P) were identified in three healthy individuals. One PD patient carried a pathogenic GCH1 variant, p.K224R. Conclusion: This is the first study that reports on sociodemographic, risk factors, clinical presentation and genetics of Costa Rican patients with PD.

中文翻译：

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哥斯达黎加帕金森氏病患者的临床和遗传分析。

摘要背景：帕金森氏病（PD）涉及环境风险和保护因素以及遗传变异。基因组学的大多数研究都是在欧洲血统的学科中进行的，这导致了抽样偏差，而拉丁美洲人口的代表性不足。目的：我们寻求对哥斯达黎加PD病例和对照的表型和基因型。方法：我们招募了118名PD患者和97名无关的对照。收集的信息包括人口统计，暴露于风险和保护因素，运动和认知评估。我们对家族性PD和非典型帕金森病相关基因包括GBA，SNCA，VPS35，LRRK2，GCH1，PRKN，PINK1，DJ-1，VPS13C，ATP13A2的编码和非翻译区域进行了测序。结果：PD先证者的平均年龄为62.12±13.51岁，男性为57.6％。风险和保护因素的患病率达到30％。尽管有多年的疾病，但体育锻炼与更好的运动表现显着相关。受教育年限的增加与更好的认知功能显着相关，而幻觉，跌倒，情绪障碍和咖啡消费则与较差的认知表现相关。我们没有鉴定出被测基因与PD或任何破坏性的纯合或复合杂合变体之间的关联。LRRK2中的罕见变体名义上与PD相关，其中六个位于LRRK2的ROC C末端（COR）结构域的氨基酸p.1620-1623之间。在三个健康个体中鉴定出非同义的GBA变体（p.T369M，p.N370S，p.L444P）。一名PD患者携带了致病性GCH1变体p.K224R。结论：