Myopia in Han Chinese
Reviewed by Ian Reekie

The authors present a case-control study of 361 patients with high myopia (mean spherical equivalent of -6.0DS or lower, and axial length greater than or equal to 26mm) and 749 healthy controls (mean spherical equivalent -1.0 to +1.0DS). They tested these patients for single nucleotide polymorphisms identified as associated with high myopia in the genes HIVEP3, NFASC/CNTN2, ZC3H11B, CNTN4/CNTN6, FRMD4B, AKAP13, and GJD2. The association of some of these loci with high myopia had been made in a recent genome wide association study in patients from Japan, Taiwan and Singapore. All of the patients in this study were Han Chinese from the Henan region. In this study, none of the loci were found to be associated with high myopia after correction for multiple comparisons. This is a relatively small study, and may not have been powered to detect small magnitude effects of variants in these genes. It does however serve to make an important point about how gene variants may be linked to pathologies in one population, but not in another. This is a consideration which is becoming increasingly apparent as many disease linked genetic variants have been defined by studies in Western populations, and these may not be relevant to other populations worldwide. It also highlights the difficulty in demonstrating robust effects of polymorphisms in particular gene loci in a multifactorial condition such as myopia, where a wide variety of confounders are consistently present.

Evaluation of myopia-associated genes in a Han Chinese population with high myopia.
Liu Z, An G, Huo Y, et al.
OPHTHALMIC GENETICS
2023;44(4):341-5.