Association of the lumican gene functional 3'-UTR polymorphism with high myopia.
OBJECTIVE
The lumican gene (LUM) encodes a major extracellular component of the fibrous mammalian sclera. Alteration in the expression levels of extracellular matrix components may influence scleral shape, which in turn could affect visual acuity. Single-nucleotide polymorphisms (SNPs) in the LUM gene were determined in an investigation of whether LUM gene polymorphisms correlate with high myopia.


METHODS
Sequences spanning all three exons, intron-exon boundaries, and promoter regions were determined in 50 normal individuals. Five SNPs were identified, one of which was found to be a newly identified polymorphism. Genomic DNA was prepared from peripheral blood obtained from 201 patients with high myopia and 86 control subjects. Genotypes of the SNPs -1554 T/C (rs3759223), -628 A/-(rs17018757), -59 CC/-(rs3832846), c.601 T/C (rs17853500), and the novel SNP c.1567 C>T were determined by polymerase chain reaction.


RESULTS
Of the five SNPs, one showed a significant difference between patients and control subjects (c.1567 C>T, P = 0.0016). Haplotype analysis revealed a significantly higher presence of polymorphisms in patients with myopia (P < 0.0001). Moreover, the c.1567 T polymorphism was determined to have lower reporter gene activity than that of c.1567 C.


CONCLUSIONS
These observations suggest that LUM gene polymorphisms contribute to the development of high myopia.
Lin
Hui-Ju
HJ
Department of Ophthalmology, China Medical University Hospital, Taichung, Taiwan, Republic of China.
Kung
Yung-Jen
YJ
Lin
Ying-Ju
YJ
Sheu
Jim J C
JJ
Chen
Bing-Hung
BH
Lan
Yu-Ching
YC
Lai
Chih-Ho
CH
Hsu
Yu-An
YA
Wan
Lei
L
Tsai
Fuu Jen
FJ
D020413:3' Untranslated Regions / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D011508:Chondroitin Sulfate Proteoglycans / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007438:Introns / Q000235:genetics; D007632:Keratan Sulfate / Q000235:genetics*; D015810:Linkage Disequilibrium; D000071234:Lumican; D008297:Male; D009216:Myopia / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
D020413:3' Untranslated Regions; D011508:Chondroitin Sulfate Proteoglycans; C000604306:LUM protein, human; D000071234:Lumican; D007632:Keratan Sulfate