Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review

色素性视网膜炎 基因型 遗传学 生物 队列 先证者 人口 ABCA4型 医学 基因 突变 内科学 表型 环境卫生
作者
Brian Juin Hsien Lee,Yih‐Chung Tham,Tien‐En Tan,Yasmin Bylstra,Weng Khong Lim,Kanika Jain,Choi Mun Chan,Ranjana Mathur,Chui Ming Gemmy Cheung,Beau J. Fenner
出处
期刊:Ophthalmic Genetics [Taylor & Francis]
卷期号:44 (2): 109-118 被引量:4
标识
DOI:10.1080/13816810.2023.2182329
摘要

Background Ongoing trials for retinitis pigmentosa (RP) are genotype-specific, with most trials conducted on European cohorts. Due to genetic differences across diverse ancestries and populations, these therapies may not be efficacious in East Asians.Materials and Methods A literature search was conducted from 1966 to September 2022 for cohort studies on East Asian populations reporting on non-syndromic RP genotypes and variants. Population-weighted prevalence was used to determine the genotypes and individual variants across the entire cohort. The carrier prevalence of common variants was compared against those in Europe.Results A total of 12 articles describing 2,932 clinically diagnosed East Asian RP probands were included. We identified 876 variants across 54 genes. The most common genotypes included USH2A, EYS, RPGR, ABCA4, PRPF31, RHO, RP1, RP2, PDE6B and SNRNP200, with USH2A as the most common (17.1%). Overall, 60.5% of probands with clinically relevant variants were found to have one of the genotypes above, with 543/876 (62.0%) of the variants occurring in these genes. The most frequently reported variant was USH2A missense variant c.2802T>G/p.C934W (4.9%). Carrier prevalence of these variants was significantly different (p < 0.0001) than in Europe.Conclusions USH2A was the most commonly affected RP gene in this East Asian cohort, although sub-population analysis revealed distinct genotype prevalence patterns. While the genotypes are similar between East Asia and European cohorts, variants are specific to East Asia. The identification of several prevalent variants in USH2A and EYS provides an opportunity for the development of therapeutics that are relevant for East Asia patients.
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
ncuwzq完成签到,获得积分10
1秒前
yshj完成签到 ,获得积分10
2秒前
4秒前
净禅完成签到 ,获得积分10
6秒前
8秒前
迷人的寒风完成签到,获得积分10
9秒前
9秒前
water应助科研通管家采纳,获得10
10秒前
Lucas应助HHHAN采纳,获得10
12秒前
无情修杰完成签到 ,获得积分10
13秒前
小柒完成签到 ,获得积分10
15秒前
聪慧芷巧发布了新的文献求助10
16秒前
17秒前
21秒前
蓝意完成签到,获得积分0
22秒前
xiaohongmao完成签到,获得积分10
27秒前
30秒前
qweerrtt完成签到,获得积分10
37秒前
37秒前
与共发布了新的文献求助10
38秒前
carly完成签到 ,获得积分10
39秒前
颢懿完成签到 ,获得积分10
42秒前
量子星尘发布了新的文献求助10
43秒前
45秒前
ljc完成签到 ,获得积分10
46秒前
Java完成签到,获得积分10
50秒前
52秒前
鲤鱼安青完成签到 ,获得积分10
54秒前
54秒前
dollarpuff完成签到 ,获得积分10
57秒前
57秒前
mmmmmMM完成签到,获得积分10
1分钟前
luckweb完成签到,获得积分10
1分钟前
猫的毛完成签到 ,获得积分10
1分钟前
nicky完成签到 ,获得积分10
1分钟前
麦子完成签到 ,获得积分10
1分钟前
1分钟前
Wilson完成签到 ,获得积分10
1分钟前
luckweb发布了新的文献求助10
1分钟前
1分钟前
高分求助中
【提示信息,请勿应助】关于scihub 10000
Les Mantodea de Guyane: Insecta, Polyneoptera [The Mantids of French Guiana] 3000
徐淮辽南地区新元古代叠层石及生物地层 3000
The Mother of All Tableaux: Order, Equivalence, and Geometry in the Large-scale Structure of Optimality Theory 3000
Handbook of Industrial Diamonds.Vol2 1100
Global Eyelash Assessment scale (GEA) 1000
Picture Books with Same-sex Parented Families: Unintentional Censorship 550
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 4038066
求助须知:如何正确求助?哪些是违规求助? 3575779
关于积分的说明 11373801
捐赠科研通 3305584
什么是DOI,文献DOI怎么找? 1819239
邀请新用户注册赠送积分活动 892655
科研通“疑难数据库(出版商)”最低求助积分说明 815022