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Editors Selection IGR 11-2

Genetics: WDR36 gene mutations

Comment by Subhabrata Chakrabarti on:

23523 Different WDR36 mutation pattern in Chinese patients with primary open-angle glaucoma, Fan BJ; Wang DY; Cheng C-Y et al., Molecular Vision, 2009; 15:- 646-653

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The article by Fan et al. (573) explores the spectrum of WDR36 gene mutations in a cohort of Chinese POAG patients. The involvement of a candidate gene in the disease is better established when its involvement is established in diverse populations worldwide. Following the discovery of WDR36 in POAG in the Caucasian populations, this study explores its association in a cohort of Chinese POAG patients. The involvement of a candidate gene in the disease is better established when its involvement is established in diverse populations worldwide.

The major strength of this study is based on the fact that it screened the WDR36 gene by sequencing, which allows for identifying novel variants that may be specific to a particular population. Few variants that were specific to the Chinese population were observed along with an intronic variant that exhibited strong association with high pressure glaucomas (HTG). This variation was not associated with JOAG and NTG, but those categories also suffered from the vagaries of relatively smaller sample sizes. Replication of the intronic variant in a different cohort with similar phenotypic features would have further validated this observation. Additionally, a meta analysis of the intronic variation across multiple studies would have been helpful. Lastly, a detailed comparative analysis of the common variants of WDR36 across different populations would have provided more meaningful insights into its role in POAG pathogenesis.

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