DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity.
DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity.
复制标题
LOXL1基因中的DNA序列变异与具有广泛种族多样性的美国诊所人群中的伪脱糖青光眼有关。
DOI：
10.1186/1471-2350-9-5
复制
发表时间：
2008-02-06
影响因子：
--
通讯作者：
Wiggs, Janey L.
中科院分区：
文献类型：
--
作者：
Fan, Bao Jian;Pasquale, Louis;Grosskreutz, Cynthia L.;Rhee, Douglas;Chen, Teresa;DeAngelis, Margaret M.;Kim, Ivana;Del Bono, Elizabeth;Miller, Joan W.;Li, Tiansen;Haines, Jonathan L.;Wiggs, Janey L.
假性剥脱综合征是全世界许多人群中青光眼的主要危险因素。使用美国临床病例对照样本，具有广泛的种族多样性，我们表明，LOXL 1中的三个常见的SNP与北欧人群中的假性剥脱相关，与假性剥脱综合征和假性剥脱性青光眼显著相关。在来自马萨诸塞州眼耳医院青光眼咨询服务中心的患者样本（206例假性剥脱、331例原发性开角型青光眼和88例对照）中对三种LOXL 1 SNP进行基因分型。评估SNP与假性剥脱综合征、假性剥脱性青光眼和原发性开角型青光眼的相关性。与对照组的79%相比，假性剥脱患者（伴或不伴青光眼）中标记rs3825942（G153 D）的G等位基因的频率为99%（p = 1.6 × 10-15; OR = 20.93，95%CI：8.06，54.39）。与对照组相比，纯合子GG基因型也与假性剥脱相关（p = 1.2 × 10-12; OR = 23.57，95%CI：7.95，69.85）。没有SNPs与原发性开角型青光眼显著相关。假性剥脱综合征是青光眼的常见病因。这些结果表明，G153 D LOXL 1变体与来自美国东北部的种族多样性患者群体中假性剥脱和假性剥脱性青光眼的风险增加显著相关。鉴于该地理区域假性剥脱的高患病率，这些结果还表明G153 D LOXL 1变体是该临床人群中成人发作性青光眼的显著风险因素。
Pseudoexfoliation syndrome is a major risk factor for glaucoma in many populations throughout the world. Using a U.S. clinic-based case control sample with broad ethnic diversity, we show that three common SNPs in LOXL1 previously associated with pseudoexfoliation in Nordic populations are significantly associated with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Three LOXL1 SNPs were genotyped in a patient sample (206 pseudoexfoliation, 331 primary open angle glaucoma, and 88 controls) from the Glaucoma Consultation Service at the Massachusetts Eye and Ear Infirmary. The SNPs were evaluation for association with pseudeoexfoliation syndrome, pseudoexfoliation glaucoma, and primary open angle glaucoma. The strongest association was found for the G allele of marker rs3825942 (G153D) with a frequency of 99% in pseudoexfoliation patients (with and without glaucoma) compared with 79% in controls (p = 1.6 × 10-15; OR = 20.93, 95%CI: 8.06, 54.39). The homozygous GG genotype is also associated with pseudoexfoliation when compared to controls (p = 1.2 × 10-12; OR = 23.57, 95%CI: 7.95, 69.85). None of the SNPs were significantly associated with primary open angle glaucoma. The pseudoexfoliation syndrome is a common cause of glaucoma. These results indicate that the G153D LOXL1 variant is significantly associated with an increased risk of pseudoexfoliation and pseudoexfoliation glaucoma in an ethnically diverse patient population from the Northeastern United States. Given the high prevalence of pseudooexfoliation in this geographic region, these results also indicate that the G153D LOXL1 variant is a significant risk factor for adult-onset glaucoma in this clinic based population.
登录
查看更多内容
影响因子：
56.9
作者：
Rezaie, T;Child, A;Sarfarazi, M
通讯作者：
Sarfarazi, M
影响因子：
30.8
作者：
Liu, XQ;Zhao, Y;Li, TS
通讯作者：
Li, TS
DOI：
10.1007/s004170050278
发表时间：
1999-07-01
影响因子：
2.7
作者：
Budde, WM;Jonas, JB
通讯作者：
Jonas, JB
影响因子：
2
作者：
Hauser, Michael A.;Sena, Dayse Figueiredo;Wiggs, Janey L.
通讯作者：
Wiggs, Janey L.
影响因子：
2
作者：
Roedl, Johannes B.;Bleich, Stefan;Juenemann, Anselm G.
通讯作者：
Juenemann, Anselm G.