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PAX6 Haplotypes Are Associated with High Myopia in Han Chinese
BACKGROUND: The paired box 6 (PAX6) gene is considered as a master gene for eye development. Linkage of myopia to the PAX6 region on chromosome 11p13 was shown in several studies, but the results for association between myopia and PAX6 were inconsistent so far. METHODOLOGY/PRINCIPAL FINDINGS: We gen...
Autores principales: | , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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Public Library of Science
2011
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3093386/ https://www.ncbi.nlm.nih.gov/pubmed/21589860 http://dx.doi.org/10.1371/journal.pone.0019587 |
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author | Jiang, Bo Yap, Maurice K. H. Leung, Kim Hung Ng, Po Wah Fung, Wai Yan Lam, Wai Wa Gu, Yang-shun Yip, Shea Ping |
author_facet | Jiang, Bo Yap, Maurice K. H. Leung, Kim Hung Ng, Po Wah Fung, Wai Yan Lam, Wai Wa Gu, Yang-shun Yip, Shea Ping |
author_sort | Jiang, Bo |
collection | PubMed |
description | BACKGROUND: The paired box 6 (PAX6) gene is considered as a master gene for eye development. Linkage of myopia to the PAX6 region on chromosome 11p13 was shown in several studies, but the results for association between myopia and PAX6 were inconsistent so far. METHODOLOGY/PRINCIPAL FINDINGS: We genotyped 16 single nucleotide polymorphisms (SNPs) in the PAX6 gene and its regulatory regions in an initial study for 300 high myopia cases and 300 controls (Group 1), and successfully replicated the positive results with another independent group of 299 high myopia cases and 299 controls (Group 2). Five SNPs were genotyped in the replication study. The spherical equivalent of subjects with high myopia was ≤−8.0 dioptres. The PLINK package was used for genetic data analysis. No association was found between each of the SNPs and high myopia. However, exhaustive sliding-window haplotype analysis highlighted an important role for rs12421026 because haplotypes containing this SNP were found to be associated with high myopia. The most significant results were given by the 4-SNP haplotype window consisting of rs2071754, rs3026393, rs1506 and rs12421026 (P = 3.54×10(−10), 4.06×10(−11) and 1.56×10(−18) for Group 1, Group 2 and Combined Group, respectively) and the 3-SNP haplotype window composed of rs3026393, rs1506 and rs12421026 (P = 5.48×10(−10), 7.93×10(−12) and 6.28×10(−23) for the three respective groups). The results remained significant after correction for multiple comparisons by permutations. The associated haplotyes found in a previous study were also successfully replicated in this study. CONCLUSIONS/SIGNIFICANCE: PAX6 haplotypes are associated with susceptibility to the development of high myopia in Chinese. The PAX6 locus plays a role in high myopia. |
format | Text |
id | pubmed-3093386 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-30933862011-05-17 PAX6 Haplotypes Are Associated with High Myopia in Han Chinese Jiang, Bo Yap, Maurice K. H. Leung, Kim Hung Ng, Po Wah Fung, Wai Yan Lam, Wai Wa Gu, Yang-shun Yip, Shea Ping PLoS One Research Article BACKGROUND: The paired box 6 (PAX6) gene is considered as a master gene for eye development. Linkage of myopia to the PAX6 region on chromosome 11p13 was shown in several studies, but the results for association between myopia and PAX6 were inconsistent so far. METHODOLOGY/PRINCIPAL FINDINGS: We genotyped 16 single nucleotide polymorphisms (SNPs) in the PAX6 gene and its regulatory regions in an initial study for 300 high myopia cases and 300 controls (Group 1), and successfully replicated the positive results with another independent group of 299 high myopia cases and 299 controls (Group 2). Five SNPs were genotyped in the replication study. The spherical equivalent of subjects with high myopia was ≤−8.0 dioptres. The PLINK package was used for genetic data analysis. No association was found between each of the SNPs and high myopia. However, exhaustive sliding-window haplotype analysis highlighted an important role for rs12421026 because haplotypes containing this SNP were found to be associated with high myopia. The most significant results were given by the 4-SNP haplotype window consisting of rs2071754, rs3026393, rs1506 and rs12421026 (P = 3.54×10(−10), 4.06×10(−11) and 1.56×10(−18) for Group 1, Group 2 and Combined Group, respectively) and the 3-SNP haplotype window composed of rs3026393, rs1506 and rs12421026 (P = 5.48×10(−10), 7.93×10(−12) and 6.28×10(−23) for the three respective groups). The results remained significant after correction for multiple comparisons by permutations. The associated haplotyes found in a previous study were also successfully replicated in this study. CONCLUSIONS/SIGNIFICANCE: PAX6 haplotypes are associated with susceptibility to the development of high myopia in Chinese. The PAX6 locus plays a role in high myopia. Public Library of Science 2011-05-12 /pmc/articles/PMC3093386/ /pubmed/21589860 http://dx.doi.org/10.1371/journal.pone.0019587 Text en Jiang et al. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited. |
spellingShingle | Research Article Jiang, Bo Yap, Maurice K. H. Leung, Kim Hung Ng, Po Wah Fung, Wai Yan Lam, Wai Wa Gu, Yang-shun Yip, Shea Ping PAX6 Haplotypes Are Associated with High Myopia in Han Chinese |
title |
PAX6 Haplotypes Are Associated with High Myopia in Han Chinese |
title_full |
PAX6 Haplotypes Are Associated with High Myopia in Han Chinese |
title_fullStr |
PAX6 Haplotypes Are Associated with High Myopia in Han Chinese |
title_full_unstemmed |
PAX6 Haplotypes Are Associated with High Myopia in Han Chinese |
title_short |
PAX6 Haplotypes Are Associated with High Myopia in Han Chinese |
title_sort | pax6 haplotypes are associated with high myopia in han chinese |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3093386/ https://www.ncbi.nlm.nih.gov/pubmed/21589860 http://dx.doi.org/10.1371/journal.pone.0019587 |
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