Complement factor H variant increases the risk of age-related macular degeneration

Jonathan L. Haines; Michael A. Hauser; Silke Schmidt; William K. Scott; Lana M. Olson; Paul Gallins; Kylee L. Spencer; Ying Kwan Shu; Maher Noureddine; John R. Gilbert; Nathalie Schnetz-Boutaud; Anita Agarwal; Eric A. Postel; Margaret A. Pericak-Vance

doi:10.1126/science.1110359

Complement factor H variant increases the risk of age-related macular degeneration

Jonathan L. Haines, Michael A. Hauser, Silke Schmidt, William K. Scott, Lana M. Olson, Paul Gallins, Kylee L. Spencer, Ying Kwan Shu, Maher Noureddine, John R. Gilbert, Nathalie Schnetz-Boutaud, Anita Agarwal, Eric A. Postel, Margaret A. Pericak-Vance

Hussman Institute for Human Genomics

Research output: Contribution to journal › Article

1888 Scopus citations

Abstract

Age-related macular degeneration (AMD) is a leading cause of visual impairment and blindness in the elderly whose etiology remains largely unknown. Previous studies identified chromosome 1q32 as harboring a susceptibility locus for AMD. We used single-nucleotide polymorphisms to interrogate this region and identified a strongly associated haplotype in two independent data sets. DNA resequencing of the complement factor H gene within this haplotype revealed a common coding variant, Y402H, that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57. This common variant likely explains ∼43% of AMD in older adults.

Original language	English (US)
Pages (from-to)	419-421
Number of pages	3
Journal	Science
Volume	308
Issue number	5720
DOIs	https://doi.org/10.1126/science.1110359
State	Published - Apr 15 2005

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Haines, J. L., Hauser, M. A., Schmidt, S., Scott, W. K., Olson, L. M., Gallins, P., Spencer, K. L., Shu, Y. K., Noureddine, M., Gilbert, J. R., Schnetz-Boutaud, N., Agarwal, A., Postel, E. A., & Pericak-Vance, M. A. (2005). Complement factor H variant increases the risk of age-related macular degeneration. Science, 308(5720), 419-421. https://doi.org/10.1126/science.1110359

Complement factor H variant increases the risk of age-related macular degeneration. / Haines, Jonathan L.; Hauser, Michael A.; Schmidt, Silke; Scott, William K.; Olson, Lana M.; Gallins, Paul; Spencer, Kylee L.; Shu, Ying Kwan; Noureddine, Maher; Gilbert, John R.; Schnetz-Boutaud, Nathalie; Agarwal, Anita; Postel, Eric A.; Pericak-Vance, Margaret A.

In: Science, Vol. 308, No. 5720, 15.04.2005, p. 419-421.

Research output: Contribution to journal › Article

Haines, Jonathan L. ; Hauser, Michael A. ; Schmidt, Silke ; Scott, William K. ; Olson, Lana M. ; Gallins, Paul ; Spencer, Kylee L. ; Shu, Ying Kwan ; Noureddine, Maher ; Gilbert, John R. ; Schnetz-Boutaud, Nathalie ; Agarwal, Anita ; Postel, Eric A. ; Pericak-Vance, Margaret A. / Complement factor H variant increases the risk of age-related macular degeneration. In: Science. 2005 ; Vol. 308, No. 5720. pp. 419-421.

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title = "Complement factor H variant increases the risk of age-related macular degeneration",

abstract = "Age-related macular degeneration (AMD) is a leading cause of visual impairment and blindness in the elderly whose etiology remains largely unknown. Previous studies identified chromosome 1q32 as harboring a susceptibility locus for AMD. We used single-nucleotide polymorphisms to interrogate this region and identified a strongly associated haplotype in two independent data sets. DNA resequencing of the complement factor H gene within this haplotype revealed a common coding variant, Y402H, that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57. This common variant likely explains ∼43% of AMD in older adults.",

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AB - Age-related macular degeneration (AMD) is a leading cause of visual impairment and blindness in the elderly whose etiology remains largely unknown. Previous studies identified chromosome 1q32 as harboring a susceptibility locus for AMD. We used single-nucleotide polymorphisms to interrogate this region and identified a strongly associated haplotype in two independent data sets. DNA resequencing of the complement factor H gene within this haplotype revealed a common coding variant, Y402H, that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57. This common variant likely explains ∼43% of AMD in older adults.

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