Rare Genetic Variants in the CFI Gene are Associated with Advanced Age-Related Macular Degeneration and Commonly Result in Reduced Serum Factor I Levels.

David Kavanagh; Yi Yu; Elizabeth C Schramm; Michael Triebwasser; Erin Wagner; Soumya Raychaudhuri; Mark J Daly; John P Atkinson; Johanna M Seddon

doi:10.1093/hmg/ddv091

Rare Genetic Variants in the CFI Gene are Associated with Advanced Age-Related Macular Degeneration and Commonly Result in Reduced Serum Factor I Levels.

David Kavanagh, Yi Yu, Elizabeth C Schramm, Michael Triebwasser, Erin Wagner, Soumya Raychaudhuri, Mark J Daly, John P Atkinson, Johanna M Seddon

Research output: Contribution to journal › Article › peer-review

Abstract

To assess a potential diagnostic and therapeutic biomarker for age-related macular degeneration (AMD), we sequenced the complement factor I gene (CFI) in 2266 individuals with AMD and 1400 without, identifying 231 individuals with rare genetic variants. We evaluated the functional impact by measuring circulating serum factor I (FI) protein levels in individuals with and without rare CFI variants. The burden of very rare (frequency

Original language	English
Pages (from-to)	3861-70
Journal	Human Molecular Genetics
Volume	24
Issue number	13
DOIs	https://doi.org/10.1093/hmg/ddv091
Publication status	Published - 2015

Access to Document

10.1093/hmg/ddv091Licence: CC BY

Cite this

Kavanagh, D., Yu, Y., Schramm, E. C., Triebwasser, M., Wagner, E., Raychaudhuri, S., Daly, M. J., Atkinson, J. P., & Seddon, J. M. (2015). Rare Genetic Variants in the CFI Gene are Associated with Advanced Age-Related Macular Degeneration and Commonly Result in Reduced Serum Factor I Levels. Human Molecular Genetics, 24(13), 3861-70. https://doi.org/10.1093/hmg/ddv091

@article{bbc7bc60dbaf4889bcf43f38ff4f605b,

title = "Rare Genetic Variants in the CFI Gene are Associated with Advanced Age-Related Macular Degeneration and Commonly Result in Reduced Serum Factor I Levels.",

abstract = "To assess a potential diagnostic and therapeutic biomarker for age-related macular degeneration (AMD), we sequenced the complement factor I gene (CFI) in 2266 individuals with AMD and 1400 without, identifying 231 individuals with rare genetic variants. We evaluated the functional impact by measuring circulating serum factor I (FI) protein levels in individuals with and without rare CFI variants. The burden of very rare (frequency",

author = "David Kavanagh and Yi Yu and Schramm, {Elizabeth C} and Michael Triebwasser and Erin Wagner and Soumya Raychaudhuri and Daly, {Mark J} and Atkinson, {John P} and Seddon, {Johanna M}",

year = "2015",

doi = "10.1093/hmg/ddv091",

language = "English",

volume = "24",

pages = "3861--70",

journal = "Human Molecular Genetics",

issn = "1460-2083",

publisher = "Oxford University Press",

number = "13",

}

TY - JOUR

T1 - Rare Genetic Variants in the CFI Gene are Associated with Advanced Age-Related Macular Degeneration and Commonly Result in Reduced Serum Factor I Levels.

AU - Kavanagh, David

AU - Yu, Yi

AU - Schramm, Elizabeth C

AU - Triebwasser, Michael

AU - Wagner, Erin

AU - Raychaudhuri, Soumya

AU - Daly, Mark J

AU - Atkinson, John P

AU - Seddon, Johanna M

PY - 2015

Y1 - 2015

N2 - To assess a potential diagnostic and therapeutic biomarker for age-related macular degeneration (AMD), we sequenced the complement factor I gene (CFI) in 2266 individuals with AMD and 1400 without, identifying 231 individuals with rare genetic variants. We evaluated the functional impact by measuring circulating serum factor I (FI) protein levels in individuals with and without rare CFI variants. The burden of very rare (frequency

AB - To assess a potential diagnostic and therapeutic biomarker for age-related macular degeneration (AMD), we sequenced the complement factor I gene (CFI) in 2266 individuals with AMD and 1400 without, identifying 231 individuals with rare genetic variants. We evaluated the functional impact by measuring circulating serum factor I (FI) protein levels in individuals with and without rare CFI variants. The burden of very rare (frequency

U2 - 10.1093/hmg/ddv091

DO - 10.1093/hmg/ddv091

M3 - Article

C2 - 25788521

SN - 1460-2083

VL - 24

SP - 3861

EP - 3870

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 13

ER -

Rare Genetic Variants in the CFI Gene are Associated with Advanced Age-Related Macular Degeneration and Commonly Result in Reduced Serum Factor I Levels.

Abstract

Access to Document

Fingerprint

Cite this