Variants at chromosome 10q26 locus and the expression of HTRA1 in the retina
详细信息 查看全文
- 作者：Gaofeng Wang ; S ; er R. Dubovy ; Jaclyn L. Kovach ; Stephen G. Schwartz ; Anita Agarwal ; William K. Scott ; Jonathan L. Haines ; Margaret A. Pericak-Vance
- 关键词：age-related macular degeneration ; HTRA1 ; ARMS2 ; genetic variant ; promoter
- 刊名：Experimental Eye Research
- 出版年：2013
- 出版时间：July, 2013
- 年：2013
- 卷：112
- 期：Complete
- 页码：102-105
- 全文大小：455 K
文摘
Variations in a locus at chromosome 10q26 are strongly associated with the risk of age-related macular degeneration (AMD). The most significantly associated haplotype includes a nonsynonymous SNP rs10490924 in the exon 1 of ARMS2 and rs11200638 in the promoter region of HTRA1. It is under debate which gene(s), ARMS2, HTRA1 or some other genes are functionally responsible for the genetic association. To verify whether the associated variants correlate with a higher HTRA1 expression level as previously reported, HTRA1 mRNA and protein were measured in a larger human retina-RPE-choroid samples (n?=?82). Results show there is no significant change of HTRA1 mRNA level among genotypes at rs11200638, rs10490924 or an indel variant of ARMS2. Furthermore, two AMD-associated synonymous SNPs rs1049331 and rs2293870 in HTRA1 exon 1 do not change its protein level either. These results suggest that the AMD-associated variants in the chromosome 10q26 locus do not significantly affect the expression of HTRA1.