Department of Ophthalmology and Shiley Eye Center and Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92093-0838, USA.
Eye (Lond). 2013 Feb;27(2):265-70; quiz 271. doi: 10.1038/eye.2012.276. Epub 2013 Jan 25.
To determine whether there is an association between hepatic lipase (LIPC) and age-related macular degeneration (AMD) in two independent Caucasian cohorts.
A discovery cohort of 1626 patients with advanced AMD and 859 normal controls and a replication cohort of 2159 cases and 1150 controls were genotyped for two single-nucleotide polymorphisms (SNPs) in the promoter region of LIPC. The associations between the SNPs and AMD were examined by χ(2) tests.
In the discovery cohort, rs493258 and rs10468017 were both associated with advanced AMD (P=9.63E-3 and P=0.048, respectively). The association was corroborated in the replication cohort (P=4.48E-03 for rs493258 and P=0.015 for rs10468017). Combined analysis resulted in even more significant associations (P=1.21E-04 for rs493258 and P=1.67E-03 for rs10468017).
The LIPC promoter variants rs493258 and rs10468017 were associated with advanced AMD in two independent Caucasian populations, confirming that LIPC polymorphisms may be a genetic risk factor for AMD in the Caucasian population.
在两个独立的高加索人群中,确定肝脂肪酶(LIPC)与年龄相关性黄斑变性(AMD)之间是否存在关联。
对一个包含 1626 名晚期 AMD 患者和 859 名正常对照的发现队列,以及一个包含 2159 例病例和 1150 名对照的复制队列进行 LIPC 启动子区域两个单核苷酸多态性(SNP)的基因分型。通过 χ(2)检验来检查 SNP 与 AMD 之间的关联。
在发现队列中,rs493258 和 rs10468017 均与晚期 AMD 相关(P=9.63E-3 和 P=0.048,分别)。这种关联在复制队列中得到了证实(P=4.48E-03 对于 rs493258 和 P=0.015 对于 rs10468017)。联合分析得出了更显著的关联(P=1.21E-04 对于 rs493258 和 P=1.67E-03 对于 rs10468017)。
LIPC 启动子变异 rs493258 和 rs10468017 与两个独立的高加索人群中的晚期 AMD 相关,证实 LIPC 多态性可能是高加索人群 AMD 的遗传风险因素。