Please use this identifier to cite or link to this item:
Title: Association of IGF1 gene haplotypes with high myopia in Chinese adults
Authors: Mak, JYY
Yap, MKH 
Fung, WY
Ng, PW
Yip, SP 
Issue Date: 2012
Source: Archives of ophthalmology, 2012, v. 130, no. 2, p. 209-216
Abstract: Objective: To investigate the association of high myopia with common single-nucleotide polymorphisms (SNPs) in the IGF1, IGFBP3, and IGFBP4 genes in a Chinese population. Methods: For our case-control study, we recruited 600 unrelated participants: 300 case participants with high myopia (-8.00 diopters or less) and 300 emmetropic controls (within ±1.00 diopter). Twenty-one tag SNPs were selected from these candidate genes and were genotyped. Genotype data were analyzed by logistic regression. Multiple comparisons were corrected by running 15 000 permutations of case-control status. Results: Although we did not find any significant association for IGF1 SNPs using single-marker analysis, we identified many windows with haplotype frequencies significantly different between case participants and control participants using a variable-sized sliding-window strategy. In particular, the most significant association was shown by a 3-SNPwindow consisting of rs12423791, rs7956547, and rs5742632 (omnibus test: asymptotic P asym=3.70×10 -9 and empirical P emp=6.67×10 -5). There were 3 high-risk haplotypes:CAC(P asym=2.35×10 -6; odds ratio [OR], 5.06), GAT (P asym=3.56×10 -4;OR, 3.18), and GGC (P asym=2.25×10 -3; OR, 25.10). There was 1 protective haplotype: GAC (P asym=8.43×10 -4; OR, 0.63). On the other hand, our single-marker and haplotype analyses did not show any significant association for IGFBP3 and IGFBP4. Conclusions: IGF1 haplotypes are associated with genetic susceptibility to high myopia in Chinese adults, whereas IGFBP3 and IGFBP4 are unlikely to be important in the genetic predisposition to high myopia. Clinical Relevance: IGF1 is associated with high myopia, and identifying the causal variants is important for understanding the underlying mechanisms.
Journal: Archives of Ophthalmology 
ISSN: 0003-9950
DOI: 10.1001/archophthalmol.2011.365
Appears in Collections:Journal/Magazine Article

View full-text via PolyU eLinks SFX Query
Show full item record


Last Week
Last month
Citations as of Sep 2, 2020


Last Week
Last month
Citations as of Sep 17, 2020

Page view(s)

Last Week
Last month
Citations as of Sep 21, 2020

Google ScholarTM



Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.