May 2006
Volume 47, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2006
Confirmation of Protective Haplotypes Spanning the CFH Gene in Age–Related Macular Degeneration
Author Affiliations & Notes
  • J.L. Haines
    Center for Human Genetics Research, Vanderbilt University, Nashville, TN
  • K. Spencer
    Center for Human Genetics Research, Vanderbilt University, Nashville, TN
  • L.M. Olson
    Center for Human Genetics Research, Vanderbilt University, Nashville, TN
  • M.A. Hauser
    Center for Human Genetics and Department of Medicine, Duke University, Durham, NC
  • S. Schmidt
    Center for Human Genetics and Department of Medicine, Duke University, Durham, NC
  • W.K. Scott
    Center for Human Genetics and Department of Medicine, Duke University, Durham, NC
  • P. Gallins
    Center for Human Genetics and Department of Medicine, Duke University, Durham, NC
  • A. Agarwal
    Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN
  • E.A. Postel
    Duke University Eye Center and Department of Ophthalmology, Duke University Medical Center, Durham, NC
  • M.A. Pericak–Vance
    Center for Human Genetics and Department of Medicine, Duke University, Durham, NC
  • Footnotes
    Commercial Relationships  J.L. Haines, None; K. Spencer, None; L.M. Olson, None; M.A. Hauser, None; S. Schmidt, None; W.K. Scott, None; P. Gallins, None; A. Agarwal, None; E.A. Postel, None; M.A. Pericak–Vance, None.
  • Footnotes
    Support  EY 12118
Investigative Ophthalmology & Visual Science May 2006, Vol.47, 3267. doi:
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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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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : 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.

Methods: : 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.

Results: : 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.

Conclusions: : Identification of the protective variant(s) carried within these haplotypes will be critical for understanding the etiology of AMD.

Keywords: age-related macular degeneration • genetics 
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