Study shows link may exist between PAX6 gene and high, extreme myopia

Researchers conducted a systematic review and meta-analysis of previous studies and found a link between the paired box gene 6 and extreme and high myopia, although the association could not withstand Bonferroni correction, a method used to reduce false-positive results.

The study cohort was 3,626 patients and 3,262 controls of Asian ancestry. In Asia, a higher proportion of the population is myopic, between 40% and 80% the authors said, compared with white and black populations at 28.1% and 19.4%, respectively.

According to the study, of 63 publications on paired box gene 6 (PAX6) and myopia, six met the inclusion criteria. This criteria included study samples from unrelated individuals drawn from clearly defined populations and those with normal individuals with spherical refraction ranging from -1.5 D to 1.5 D.

Tang and fellow researchers defined high myopia as the axial length of 26 mm or higher and/or refractive error of -6 D or less, and extreme myopia was defined as axial length of 28 mm or higher and/or a refractive error of -10 D or less.

Five PAX6 single-nucleotide polymorphisms (SNPs), rs3026354, rs667773, rs2071754, rs644242 and rs3026393 were meta-analyzed in high myopia and two SNPs, rs667773 and rs644242 in extreme myopia.

It was found that rs644242 in the PAX6 gene has a suggestive association with both high and extreme myopia. No association was found between SNPs rs667773, rs3026354, rs302639 and myopia. Researchers also noted that the odd ratios of rs644242 for extreme myopia were lower than for high myopia, which may indicate that the protective effect is stronger in extreme myopia.

Researchers concluded that there is an association between PAX6 in extreme and high myopia; however, because the association could not withstand Bonferroni correction, PAX6 may only offer a small effect, if any, on myopia development.

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Source:

Tang, et al. Optom Vis Sci. April 2014; 91(4)00-00.