LOC387715 is associated with increased risk of neovascular age-related macular degeneration in the Utah population

Kang Zhang
Department of Ophthalmology and Visual Sciences，University of Utah, Salt Lake City 84112, USA

Purpose: A second locus at 10q26.13 has recently been shown to increase the risk for age-related macular degeneration (AMD). The precise gene involved at this locus has not been elucidated. The purpose of this study is to confirm the association at 10q26, to determine the principal variant which explains this association, and to determine its contribution to neovascular (wet) AMD risk. Additionally we examined the risk at 10q26  in the context of risk attributed by CFH at 1q31.3.

Methods: We performed an association study incorporating SNP data for LOC387715 and PLEKHA1 at 10q26.13 and for CFH at 1q31.3 in a Utah AMD cohort.  Two hunderd sixty Utah patients with wet AMD, and 297 age and ethnicity matched control subjects were genotyped . Three single nucleotide polymorphism at 10q26.13, in addition to CFH Y402H were genotyped and analyzed.

Results: We demonstrated that A69S in LOC387715 was significantly associated with wet AMD (p = 1.0×10-9, Orhet=1.70; Orhom=7.09; risk allele T: 39.7% versus 24.7%, p = 4.5x10-9). In addition we showed that the association for LOC387715 rs10490924 is the principal variant for 10q26.13, and that it drives the secondary associations found for PLEKHA1. Further, using logistic regression, we showed that the interaction term was non-significant and that the risk of wet AMD at LOC387715 was independent and additive with CFHY402H. 

Conclusion: Our results confirm the findings of Rivera et al (2005) suggesting that LOC387715 as the second major susceptibility locus for wet AMD.  Together with CFH, LOC387715 represents a major risk for AMD

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