Genetic variation in the regulatory domains of the lumican gene, where both rs3759223 and rs3741834 are located, are associated with high myopia susceptibility among the Han Chinese, making this region worthy of further investigation.
Our results indicate that an SNP (rs3759223), which is located in the promoter region of the lumican gene, may be worth further investigation to determine its association with development of high myopia.
Meta-analyses showed no association between rs3759223 polymorphism and high myopia susceptibility in all genetic models (CC vs. TT, OR = 1.089; 95% CI, 0.690 to 1.718; CT vs. TT, OR = 0.865; 95% CI, 0.646 to 1.157; CC + CT vs. TT, OR = 1.202; 95% CI, 0.730 to 1.980; CC vs. CT + TT, OR = 0.914; 95% CI, 0.771 to 1.083) and no significance in subgroup analyses according to the definition of high myopia (based on more myopic than -6.00 diopters vs. not based on more myopic than -6.00 diopters).
Haplotype-specific tests showed that the C-C and T-C haplotypes were associated significantly with high myopia, with odds ratios (95% confidence intervals) of 19.32 (2.55-146.54) and 0.69 (0.46-1.04), respectively. rs3759223 and rs3741834 are in a putative regulatory element of the lumican gene, which influences fibrillogenesis of scleral collagen fibers and the development of myopia.
Haplotype-specific tests showed that the C-C and T-C haplotypes were associated significantly with high myopia, with odds ratios (95% confidence intervals) of 19.32 (2.55-146.54) and 0.69 (0.46-1.04), respectively. rs3759223 and rs3741834 are in a putative regulatory element of the lumican gene, which influences fibrillogenesis of scleral collagen fibers and the development of myopia.
Genetic variation in the regulatory domains of the lumican gene, where both rs3759223 and rs3741834 are located, are associated with high myopia susceptibility among the Han Chinese, making this region worthy of further investigation.
Although LUM rs2268578 was associated with breast cancer in the Mayo Clinic study, particularly estrogen receptor-positive breast cancer, weaker and modest associations were observed in the SEARCH sample.
Although LUM rs2268578 was associated with breast cancer in the Mayo Clinic study, particularly estrogen receptor-positive breast cancer, weaker and modest associations were observed in the SEARCH sample.
Although LUM rs2268578 was associated with breast cancer in the Mayo Clinic study, particularly estrogen receptor-positive breast cancer, weaker and modest associations were observed in the SEARCH sample.
Five changes were detected in opticin, Thr177Arg, Arg229His, Arg325Trp, Gly329Ser, and Arg330His, and all but one (Arg229His) were shown to cosegregate with high myopia in families with incomplete penetrance.