Author(s): Lin, HJ (Lin, Hui-Ju); Wan, L (Wan, Lei); Tsai, YS (Tsai, Yuhsin); Chen, WC (Chen, Wen-Chi); Tsai, SW (Tsai, Shih-Wei); Tsai, FJ (Tsai, Fuu-Jen)
Title: Muscarinic acetylcholine receptor 1 gene polymorphisms associated with high myopia Source: MOLECULAR VISION, 15 (187-88): 1774-1780 SEP 4 2009
Language: English Document Type: Article
KeyWords Plus: EYE ENLARGEMENT; ATROPINE; ENVIRONMENT; ANTAGONISTS;
LINKAGE; CHICK; POPULATION; PREVALENCE; 12Q
Abstract: Purpose: Numerous studies, including those using animal models of myopia development and human clinical trials, have shown that the non-selective muscarinic antagonist atropine is effective in preventing the axial elongation that leads to myopia
development. Among all of the muscarinic acetylcholine receptors (mAChRs), mAChR 1 (M1) was the most effective in preventing myopic eye change. Our specific aim in this study was to examine the association between high myopia and polymorphisms within the muscarinic acetylcholine receptors 1 gene (CHRM1).
Methods: The participants comprised of a high myopia group (n=194; age range, 17-24 years) having a myopic spherical equivalent greater than 6.5 diopters (D) and a control group (n=109;
age range, 17-25 years) having a myopic spherical equivalent less than 0.5 D. Genotyping was performed using an assay-on-demand allelic discrimination assay. Polymerase chain reaction (PCR) was performed using 96 well plates on a thermal cycler. The polymorphisms detected were S1 (CHRM1 rs11823728), S2 (CHRM1 rs544978), S3 (CHRM1 rs2186410), and S4 (CHRM1 rs542269).
Results: There was a significant difference in the distribution of S2 and S4 between the high myopia and control groups (p=2.40 x 10(-6) and 2.38 x 10(-8), respectively). The odds ratios of AA genotype of S2 and GG genotype of S4 were both 0.08 (95% confidence interval [CI]:
0.02-0.29 and 0.02-0.36, respectively). Logistic regression test revealed S1, S2, and S4 CHRM1 as all being significant in the development of high myopia. Moreover, the distributions of haplotype 4 (Ht4; C/A/A/A) differed significantly between the two groups (p=3.4 x 10(-5), odds ratio: 0.1, 95% CI: 0.03-0.34).
Conclusions: Our results suggest that the S2 and S4 polymorphisms of CHRM1 are
associated with susceptibility for developing high myopia. S1, S2, and S4 CHRM1 had a co- operative association with high myopia.
Addresses: [Lin, Hui-Ju; Wan, Lei; Chen, Wen-Chi; Tsai, Fuu-Jen] China Med Univ Hosp, Dept Med Genet, Taichung 404, Taiwan; [Lin, Hui-Ju] China Med Univ Hosp, Dept
Ophthalmol, Taichung 404, Taiwan; [Lin, Hui-Ju; Wan, Lei; Tsai, Yuhsin; Tsai, Fuu-Jen] China Med Univ, Coll Chinese Med, Sch Chinese Med, Taichung, Taiwan; [Wan, Lei] Asia Univ, Dept Biotechnol, Taichung, Taiwan; [Chen, Wen-Chi] China Med Univ, Coll Chinese Med, Grad Inst
Integrated Med, Taichung, Taiwan; [Tsai, Shih-Wei] Natl Taiwan Univ, Coll Publ Hlth, Inst Environm Hlth, Taipei 10764, Taiwan
Reprint Address: Tsai, FJ, China Med Univ Hosp, Dept Med Genet, 2 Yuh Der Rd, Taichung 404, Taiwan.
E-mail Address: d0704@mail.cmuh.org.tw Funding Acknowledgement:
Funding Agency Grant Number
National Science Council, University Hospital NSC 96-2628-B-039-002-MY3
This University Hospital and from the National Science Council, University Hospital and from the National Science Council, Taiwan (NSC 96-2628-B-039-002-MY3).
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Publisher: MOLECULAR VISION
Publisher Address: C/O JEFF BOATRIGHT, LAB B, 5500 EMORY EYE CENTER, 1327 CLIFTON RD, N E, ATLANTA, GA 30322 USA
ISSN: 1090-0535
29-char Source Abbrev.: MOL VIS ISO Source Abbrev.: Mol. Vis.
Source Item Page Count: 7
Subject Category: Biochemistry & Molecular Biology; Ophthalmology ISI Document Delivery No.: 501OQ
