Risk alleles in CFH and ARMS2 and the long-term natural history of age-related macular degeneration: the Beaver Dam Eye Study.
Risk alleles in CFH and ARMS2 and the long-term natural history of age-related macular degeneration: the Beaver Dam Eye Study.
复制标题
CFH和ARM2中的风险等位基因以及与年龄相关的黄斑变性的长期自然历史：Beaver Dam Eye研究。
DOI：
10.1001/jamaophthalmol.2013.713
复制
发表时间：
2013-03
影响因子：
8.1
通讯作者：
Klein, Barbara E. K.
中科院分区：
文献类型：
--
作者：
Klein, Ronald;Klein, Ronald;Myers, Chelsea E.;Meuer, Stacy M.;Gangnon, Ronald E.;Sivakumaran, Theru A.;Iyengar, Sudha K.;Lee, Kristine E.;Klein, Barbara E. K.
描述补体因子H（CFH，rs 1061170）和年龄相关性黄斑病变易感性2（ARMS 2，rs 10490924）中的风险等位基因与20年期间年龄相关性黄斑变性（AMD）的发病率和进展的关系。在1988-1990年的基线检查中，有4282名年龄在43-86岁的人参加了一项基于人群的队列研究，他们在20年的时间内参加了至少一对间隔5年的检查，并有AMD的分级眼底照片和CFH和ARMS 2的基因型信息。AMD的低、中和高遗传风险分别由CFH和ARMS 2的0-1、2或3-4个风险等位基因的存在来定义。多状态模型（MSM）用于估计整个年龄范围内AMD的进展。分别有2820人（66%）、1129人（26%）和333人（8%）具有AMD的低、中和高遗传风险。早期和晚期AMD的5年发病率分别为9.1%和1.6%，并随年龄增加，但没有性别差异。使用MSM，在低、中和高AMD遗传风险组中45岁无AMD的人中，估计分别有33.0%、39.9%和46.5%发展为早期AMD，估计分别有1.4%、5.2%和15.3%在80岁时发展为晚期AMD。这些基于人群的数据提供了根据年龄和CFH和ARMS 2的遗传风险等位基因对AMD及其病变的发病率和进展的长期风险的估计。
To describe relationships of risk alleles in complement factor H (CFH, rs1061170) and Age-Related Maculopathy susceptibility 2 (ARMS2, rs10490924) to the incidence and progression of age-related macular degeneration (AMD) over a 20-year period. There were 4282 persons aged 43–86 years at the baseline examination in 1988–1990 enrolled in a population-based cohort study who participated in at least 1 pair of examinations spaced 5 years apart over a 20-year period and had gradable fundus photographs for AMD and genotype information on CFH and ARMS2. Low, intermediate, and high genetic risk for AMD was defined by the presence of 0–1, 2, or 3–4 risk alleles for CFH and ARMS2, respectively. Multi-state models (MSMs) were used to estimate progression of AMD over the entire age range. There were 2820 (66%), 1129 (26%), and 333 persons (8%) with low, intermediate, and high genetic risk for AMD, respectively. The 5-year incidences of early and late AMD were 9.1% and 1.6%, respectively, and increased with age but did not differ by sex. Using the MSM, of persons aged 45 years with no AMD in the low, intermediate, and high AMD genetic risk groups, 33.0%, 39.9%, and 46.5%, respectively were estimated to develop early AMD, and 1.4%, 5.2%, and 15.3%, respectively were estimated to develop late AMD by age 80 years. These population-based data provide estimates of the long-term risk of the incidence and progression of AMD and its lesions by age and genetic risk alleles for CFH and ARMS2.
登录
查看更多内容
影响因子：
13.7
作者：
Klein, R;Klein, BEK;Lee, KE
通讯作者：
Lee, KE
影响因子：
4.4
作者：
Delcourt, Cecile;Delyfer, Marie-Noelle;Korobelnik, Jean-Francois
通讯作者：
Korobelnik, Jean-Francois
影响因子：
5.2
作者：
Fagerness, Jesen A.;Maller, Julian B.;Seddon, Johanna M.
通讯作者：
Seddon, Johanna M.
影响因子：
--
作者：
Gangnon, Ronald E.;Lee, Kristine E.;Klein, Ronald
通讯作者：
Klein, Ronald
影响因子：
56.9
作者：
Edwards, AO;Ritter, R;Farrer, LA
通讯作者：
Farrer, LA