Muscarinic Acetylcholine Receptor 1 Gene Polymorphisms Associated with High Myopia

ASIA unversity > 醫學暨健康學院 > 生物科技學系 > 期刊論文 > Item 310904400/16351

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Title:	Muscarinic Acetylcholine Receptor 1 Gene Polymorphisms Associated with High Myopia
Authors:	;Lin, Hui-Ju;萬磊;Wan, Lei;Tsai, Yuhsin;Chen, Wen-Chi;Tsai, Shih-Wei;Tsai, Fuu-Jen
Contributors:	生物科技學系
Date:	2009-09
Issue Date:	2012-11-23 09:11:52 (UTC+0)
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=2.40×10−6 and 2.38×10-8, 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=3.4×10−5, 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
Appears in Collections:	[生物科技學系] 期刊論文

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