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Journal of Ophthalmology
Volume 2009, Article ID 514306, 5 pages
http://dx.doi.org/10.1155/2009/514306
Clinical Study

Association of Lumican Gene with Susceptibility to Pathological Myopia in the Northern Han Ethnic Chinese

1Eye Center of Beijing Tongren Hospital of Capital Medical University, Beijing 100730, China
2Department of Ophthalmology, First Affiliated Hospital of Dalian Medical University, Dalian 116011, China
3Department of Biochemistry, Hongkong University, Hong Kong

Received 4 March 2009; Accepted 3 May 2009

Academic Editor: Edward Manche

Copyright © 2009 Fengju Zhang et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Pathological myopia is a severe hereditary ocular disease leading to blindness. It is urgent and very important to find the pathogenesis and therapy for this disease. The purpose of the study is to analyze sequences of lumican and decorin genes with pathological myopia(PM) and control subjects to verify the relationship between lumican, decorin genes and PM in Northern Han Chinese. We collected and analyzed the blood samples of 94 adults (including 12 pedigree cases and 82 sporadic cases) with PM and 90 controls in the northern Han ethnic Chinese. Genotyping was performed by direct sequencing after polymerase chain reaction(PCR) amplification and allele frequencies were tested for Hardy-Weinberg equilibrium. Univariate analysis revealed significant differences between two groups for three SNPs: rs3759223 and rs17853500 of the lumican gene and rs74419 of decorin gene with ( ) for all their genotype distribution and allele frequency. There is no significant difference for incidence of these mutations between pedigree and sporadic group ( ). The results suggested that the sequence variants in 5′-regulatory region of lumican gene and 3'UTR of decorin gene were associated significantly with PM in Northern Han Chinese. Further studies are needed to confirm finally whether the two genes are the virulence genes of PM.