Muscarinic acetylcholine receptor 1 gene polymorphisms associated with high myopia

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Title:	Muscarinic acetylcholine receptor 1 gene polymorphisms associated with high myopia
Authors:	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)
Contributors:	Department of Biotechnology
Keywords:	EYE ENLARGEMENT;ATROPINE;ENVIRONMENT;ANTAGONISTS;LINKAGE;CHICK;POPULATION;PREVALENCE;12Q
Date:	2009
Issue Date:	2010-03-26 02:29:10 (UTC+0)
Publisher:	Asia University
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.
Relation:	MOLECULAR VISION 15 (187-88): 1774-1780
Appears in Collections:	[Department of Biotechnology] Journal Article

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