September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Genotype analysis of three SNPs in SIX6 associated with primary open angle glaucoma in Chinese population
Author Affiliations & Notes
  • jinghong sang
    Ophthalmology, Beijing Tongren Hospital, Beijing, China
  • Footnotes
    Commercial Relationships   jinghong sang, None
  • Footnotes
    Support  National natural science foundation
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 824. doi:
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      jinghong sang; Genotype analysis of three SNPs in SIX6 associated with primary open angle glaucoma in Chinese population. Invest. Ophthalmol. Vis. Sci. 2016;57(12):824.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Three single nucleotide polymorphisms (SNPs) rs10483727,rs33912345 and rs146737847 in SIX6 or in SIX1-6 locus have recently implicated with primary open angle glaucoma. We investigated the genetic association of these three SNPs with primary open angle glaucoma in Chinese population.

Methods : This study collected 866 primary open angle glaucoma patients and 266 individuals of control group from Beijing Tongren hospital, including 685 high-pressure glaucoma(HTG) and 181 normal tension glaucoma(NTG). Written informed consents were obtained from patients and normal subjects. DNA extraction was all from peripheral blood. Genotyping for all three SNPs was performed by using MALDI-TOF MS.

Results : In our study, genetic association was significantly identified for rs10483727 in HTG group (P=0.02), in NTG group(P<0.001) and in POAG (combined HTG and NTG patients) group(P=0.001). rs33912345 was also found significantly association in HTG group(P=0.008), in NTG group(P<0.001) and in POAG (combined HTG and NTG patients) group(P=0.001). rs146737847 is a rare mutation in SIX6, but none of our POAG patients found this mutation.

Conclusions : rs10483727 and rs33912345 are significantly related to POAG and two subtypes of POAG respectively. In this study, the rare mutation of SIX6 (rs146737847) have not been found both in POAG and control groups. Further work should be investigated the association between genotype and clinical phenotype in POAG and the SIX6 gene function in the pathogenesis of POAG.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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