Penetrance of Parkinson disease LRRK2 G2385R‐associated variant in the Chinese population

外显率 医学 人口 队列 疾病 LRRK2 内科学 遗传学 帕金森病 生物 环境卫生 基因 表型
作者
Pei Wang,Pei‐Jing Cui,Qi Luo,Jie Chen,Huidong Tang,Lina Zhang,Shengdi Chen,Jianfang Ma
出处
期刊:European Journal of Neurology [Wiley]
卷期号:29 (9): 2639-2644 被引量:6
标识
DOI:10.1111/ene.15417
摘要

Abstract Background and purpose Penetrance estimates of the leucine‐rich repeat kinase 2 ( LRRK2 ) variants for Parkinson disease (PD) vary widely. G2385R is one of the most common LRRK2 variants in Asian populations, and its penetrance is currently unknown. We aimed to estimate the penetrance of G2385R in the Chinese population. Methods The G2385R variant was tested by Sanger sequencing in 6386 participants older than 50 years, all from the community cohort established by Shanghai Ruijin Hospital in 2009–2011. G2385R carriers and matched noncarriers underwent a brief questionnaire survey (including sex, current age, PD diagnosis, and age at onset) and face‐to‐face PD assessment during 2020–2021. The penetrance of PD was estimated by the Kaplan–Meier method. Results A total of 396 G2385R carriers and 415 noncarriers were included, after excluding those with a baseline diagnosis of PD or unwilling to participate. In G2385R carriers, the penetrance of PD was 1.64% at 70 years, 10.26% at 80 years, and 18.49% at 90 years, and reached 25.90% at 95 years. The penetrance of PD in G2385R carriers was higher than in noncarriers ( p = 0.0071). In noncarriers, only 0%, 3.72%, and 9.66% developed parkinsonism by 70, 80, and 90 years of age. Among carriers and noncarriers, there were no statistically significant differences in penetrance comparisons between males and females, or between urban and rural. Conclusions The lifetime penetrance of LRRK2 G2385R in the Chinese population was 25.9%. The penetrance modifier of G2385R in our study was age‐related. Further investigation of genetic and environmental modifiers affecting G2385R penetrance is warranted.
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
PDF的下载单位、IP信息已删除 (2025-6-4)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
李健的粉丝团团长应助Mine采纳,获得10
刚刚
汉堡包应助幸运在我采纳,获得10
刚刚
刚刚
刚刚
科研通AI2S应助朴素海亦采纳,获得10
1秒前
呜呜发布了新的文献求助20
1秒前
Leslie完成签到,获得积分10
1秒前
1秒前
iNk应助牛爷爷采纳,获得10
1秒前
宇宙中的先行者完成签到,获得积分10
2秒前
朴实的小萱完成签到 ,获得积分10
2秒前
zyt完成签到,获得积分10
2秒前
JJ完成签到,获得积分10
3秒前
666发布了新的文献求助10
3秒前
东方雨季完成签到,获得积分10
3秒前
希望天下0贩的0应助猫猫采纳,获得10
3秒前
luoziwuhui完成签到,获得积分10
4秒前
4秒前
4秒前
华仔应助落微采纳,获得10
4秒前
CyrusSo524应助焱垚采纳,获得10
4秒前
5秒前
给我个二硫碘化钾完成签到,获得积分10
5秒前
5秒前
葛怀锐完成签到 ,获得积分10
5秒前
ada完成签到,获得积分10
6秒前
tian完成签到,获得积分10
6秒前
叶子完成签到,获得积分10
6秒前
6秒前
唐若冰完成签到,获得积分10
7秒前
frx1996完成签到,获得积分20
7秒前
小二郎应助front采纳,获得10
7秒前
伶俐妙海应助忐忑的远山采纳,获得40
7秒前
科研通AI2S应助zzs喵采纳,获得10
7秒前
7秒前
whitedawn完成签到 ,获得积分10
7秒前
隐形惜筠完成签到 ,获得积分10
8秒前
姜水完成签到,获得积分10
8秒前
叶子阳完成签到 ,获得积分10
8秒前
9秒前
高分求助中
A new approach to the extrapolation of accelerated life test data 1000
Cognitive Neuroscience: The Biology of the Mind 1000
Technical Brochure TB 814: LPIT applications in HV gas insulated switchgear 1000
ACSM’s Guidelines for Exercise Testing and Prescription, 12th edition 500
Nucleophilic substitution in azasydnone-modified dinitroanisoles 500
不知道标题是什么 500
A Preliminary Study on Correlation Between Independent Components of Facial Thermal Images and Subjective Assessment of Chronic Stress 500
热门求助领域 (近24小时)
化学 材料科学 医学 生物 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 遗传学 基因 物理化学 催化作用 冶金 细胞生物学 免疫学
热门帖子
关注 科研通微信公众号,转发送积分 3968844
求助须知:如何正确求助?哪些是违规求助? 3513769
关于积分的说明 11169920
捐赠科研通 3249095
什么是DOI,文献DOI怎么找? 1794630
邀请新用户注册赠送积分活动 875278
科研通“疑难数据库(出版商)”最低求助积分说明 804755