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J.L. Haines, K. Spencer, L.M. Olson, M.A. Hauser, S. Schmidt, W.K. Scott, P. Gallins, A. Agarwal, E.A. Postel, M.A. Pericak–Vance; Confirmation of Protective Haplotypes Spanning the CFH Gene in Age–Related Macular Degeneration . Invest. Ophthalmol. Vis. Sci. 2006;47(13):3267.
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Research into the genetics of age–related macular degeneration has advanced rapidly in the last year with multiple confirmations of the Y402H risk allele in the complement factor H (CFH) gene on chromosome 1 and the identification of a putative susceptibility allele of the hypothetical gene LOC387715 on chromosome 10. Hageman et al. 2005 reported that the CAATTTTG and CGGCTTTG haplotypes at SNPs rs3753394, rs529825, rs800292, rs3766404, rs1061170, rs203674, rs3753396, and rs1065489 in the CFH gene are protective in a case–control dataset. Replication of association studies is essential, so our goal was to further investigate these findings.
The haplo.stats program was used to test for association of the protective haplotypes in a case–control dataset consisting of 530 cases and 201 controls with adjustment for age and sex. The HBAT option of FBAT was used in an independent family–based dataset of 201 families.
We have confirmed the association of these two protective haplotypes in our own case–control dataset (p <0.001 and 0.012, respectively). The association was also observed in a completely independent family–based dataset (p =0.020 and 0.018, respectively). Moreover, the protective haplotypes were overrepresented in controls even after taking into consideration the underrepresentation of the risk haplotype (p < 0.001 for both haplotypes) in the case–control dataset.
Identification of the protective variant(s) carried within these haplotypes will be critical for understanding the etiology of AMD.
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