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
13 September 2014
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, .
(PMID:5352734)
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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Published date: 13 September 2014
Organisations:
Human Development & Health, Centre for Biological Sciences, Clinical & Experimental Sciences
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Local EPrints ID: 371785
URI: http://eprints.soton.ac.uk/id/eprint/371785
PURE UUID: 4a3af53e-2168-456f-a6ea-aba3308c7483
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Date deposited: 18 Nov 2014 10:29
Last modified: 27 May 2022 01:38
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Author:
Philip Alexander
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