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Complement factor I and age-related macular degeneration

Complement factor I and age-related macular degeneration
Complement factor I and age-related macular degeneration
Our results identified a much higher frequency of heterozygosity for p.Gly119Arg in both cases and controls than in previous studies. Of note is that our sub-cohort from Guernsey had a particularly high frequency of p.Gly119Arg heterozygosity in affected individuals (4%) compared to our sub-cohort from the mainland (0.71%). Although these data support the conclusions of van de Ven et al. that the p.Gly119Arg substitution confers a high risk of AMD, our data suggest that this missense mutation is not as rare or as highly penetrant as previously reported. There was no difference in frequency for a second CFI variant, p.Gly188Ala, between the cases and the controls.
1253-1257
Alexander, Philip
ea648f08-18ec-4834-befc-9d2279e7f2bc
Gibson, Jane
855033a6-38f3-4853-8f60-d7d4561226ae
Cree, Angela J
6724b71b-8828-4abb-971f-0856c2af555e
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9
Lotery, Andrew J
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Alexander, Philip
ea648f08-18ec-4834-befc-9d2279e7f2bc
Gibson, Jane
855033a6-38f3-4853-8f60-d7d4561226ae
Cree, Angela J
6724b71b-8828-4abb-971f-0856c2af555e
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9
Lotery, Andrew J
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514

Alexander, Philip, Gibson, Jane, Cree, Angela J, Ennis, Sarah and Lotery, Andrew J (2014) Complement factor I and age-related macular degeneration. Molecular Vision, 20, 1253-1257. (PMID:5352734)

Record type: Article

Abstract

Our results identified a much higher frequency of heterozygosity for p.Gly119Arg in both cases and controls than in previous studies. Of note is that our sub-cohort from Guernsey had a particularly high frequency of p.Gly119Arg heterozygosity in affected individuals (4%) compared to our sub-cohort from the mainland (0.71%). Although these data support the conclusions of van de Ven et al. that the p.Gly119Arg substitution confers a high risk of AMD, our data suggest that this missense mutation is not as rare or as highly penetrant as previously reported. There was no difference in frequency for a second CFI variant, p.Gly188Ala, between the cases and the controls.

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More information

Published date: 13 September 2014
Organisations: Human Development & Health, Centre for Biological Sciences, Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 371785
URI: https://eprints.soton.ac.uk/id/eprint/371785
PURE UUID: 4a3af53e-2168-456f-a6ea-aba3308c7483
ORCID for Jane Gibson: ORCID iD orcid.org/0000-0002-0973-8285
ORCID for Sarah Ennis: ORCID iD orcid.org/0000-0003-2648-0869
ORCID for Andrew J Lotery: ORCID iD orcid.org/0000-0001-5541-4305

Catalogue record

Date deposited: 18 Nov 2014 10:29
Last modified: 31 Jan 2019 01:37

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