Differences of genotypes between male and female have been studied in Parkinson’s disease (PD), but limited research has focused on the comparison between sexes with LRRK2 G2385 variant. The aim of this study was to explore sex effects in the same genetic subtype and role of leucine-rich repeat kinase 2 (LRRK2) G2385R variants in the same sex in PD. 613 PD patients were recruited from the Movement Disorders Clinic in Ruijin Hospital. We did not include healthy controls in this study. The data collected includes demographic information, disease history, scores of motor and non-motor symptoms scales, midbrain transcranial sonography and DNA. Binary logistic regression analysis was performed to evaluate the association between clinical features and sex in LRRK2 G2385R carriers and non-carriers, as well as the association between the clinical features and LRRK2 G2385R variants in male and female sex. Sex distribution is similar in LRRK2 G2385R carriers and non-carriers. In male sex, LRRK2 G2385R carriers showed lower risk in cognitive impairment compared with non-carriers (OR = 0.301, p = 0.003, 95%CI 0.135–0.668). In female sex, LRRK2 G2385R carriers showed lower risk in autonomic dysfunction compared with non-carrier (OR = 0.401, p = 0.040, 95%CI 0.167–0.960). In LRRK2 G2385R non-carriers, female sex showed lower risk of impairment in activity of daily living (OR = 0.610, p = 0.021, 95%CI 0.400–0.928), excessive daytime sleepiness (OR = 0.555, p = 0.007, 95%CI 0.361–0.853), substantia nigra hyperechogenicity (OR = 0.448, p = 0.019, 95%CI 0.228–0.878), autonomic dysfunction frequency (OR = 0.626, p = 0.016, 95%CI 0.428–0.917) and higher risk in mood disorders (OR = 1.691, p = 0.022, 95%CI 1.078–2.654) compared with male. In LRRK2 G2385R carriers, female sex showed a lower risk of autonomic dysfunction (OR = 0.294, p = 0.024, 95%CI 0.102–0.849) compared with male. In contrast to male PD patients, a more benign disease course was observed in female in both LRRK2 G2385R carriers and non-carriers. However, sex differences were less notable in PD with LRRK2 G2385R variants.

中文翻译：

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性别对帕金森病 LRRK2 G2385R 携带者和非携带者临床特征的影响

在帕金森病 (PD) 中研究了男性和女性之间的基因型差异，但有限的研究集中在具有 LRRK2 G2385 变异的性别之间的比较。本研究的目的是探索相同遗传亚型中的性别效应以及富含亮氨酸重复激酶 2 (LRRK2) G2385R 变体在 PD 中同性别的作用。从瑞金医院运动障碍门诊招募了613名PD患者。我们在这项研究中没有包括健康对照。收集的数据包括人口统计信息、疾病史、运动和非运动症状量表评分、中脑经颅超声检查和 DNA。进行二元逻辑回归分析以评估 LRRK2 G2385R 携带者和非携带者的临床特征与性别之间的关联，以及临床特征与男性和女性的 LRRK2 G2385R 变异之间的关联。LRRK2 G2385R 携带者和非携带者的性别分布相似。在男性中，LRRK2 G2385R 携带者的认知障碍风险低于非携带者（OR = 0.301，p = 0.003，95%CI 0.135–0.668）。在女性中，LRRK2 G2385R 携带者的自主神经功能障碍风险低于非携带者（OR = 0.401，p = 0.040，95%CI 0.167–0.960）。在 LRRK2 G2385R 非携带者中，女性的日常生活活动受损风险较低（OR = 0.610，p = 0.021，95%CI 0.400–0.928），白天过度嗜睡（OR = 0.555，p = 0.007，95%） CI 0.361–0.853)、黑质高回声性 (OR = 0.448, p = 0.019, 95%CI 0.228–0.878)、自主神经功能障碍频率 (OR = 0.626, p = 0.016, 95%CI 0.428) 917) 并且与男性相比，情绪障碍风险更高 (OR = 1.691, p = 0.022, 95% CI 1.078–2.654)。在 LRRK2 G2385R 携带者中，与男性相比，女性出现自主神经功能障碍的风险较低（OR = 0.294，p = 0.024，95%CI 0.102–0.849）。与男性 PD 患者相比，在 LRRK2 G2385R 携带者和非携带者中，女性的病程更为良性。然而，在具有 LRRK2 G2385R 变体的 PD 中，性别差异不那么显着。