Age related macular degeneration is associated with the HLA Cw*0701 genotype and the Natural Killer cell receptor AA haplotype
Age related macular degeneration is associated with the HLA Cw*0701 genotype and the Natural Killer cell receptor AA haplotype
PURPOSE. To determine the association of Human Leucocyte Antigen - HLA C and its cognate killer-cell immunoglobulin-like receptor (KIR) ligands with age related macular degeneration (AMD). Methods: HLA class I allele groups including the HLA C principal alleles were genotyped in a cohort of 104 AMD cases and 93 controls using the PCR-SSP.
METHOD. This cohort was then genotyped for 16 KIR genes by PCR-SSP. Frequencies of the tested HLA / KIR alleles were then compared between AMD patients and normal controls. HLA C1, Cw*07, Cw*0701 genotypes and their combinations with KIR genotypes/haplotypes were tested for association with AMD. P values were obtained using a 2-tailed chi-squared test and Bonferroni corrections applied for multiple testing (Pc).
RESULTS. The HLA Cw*0701 allele in combination with the inhibitory KIR AA haplotype was associated with AMD following logistic regression analysis (P=0.006, Pc=0.036, OR= 4.35, 95% CI =1.41-13.44).
CONCLUSIONS. The HLA Cw*0701 allele and KIR haplotype AA are associated with AMD. This genotype combination suggests that Natural killer cells have a role in the pathogenesis of AMD. Replication studies are required to confirm these novel HLA-KIR associations with AMD.
5077-5082
Goverdhan, Srinivas V.
9ae32d5a-5c82-48a4-962d-1ed8acc3991e
Khakoo, Salim I.
6c16d2f5-ae80-4d9b-9100-6bfb34ad0273
Gaston, Hannah
89074e52-ad62-433a-b92b-1fd73c3772d7
Chen, Xiaoli
fba6c7fa-57f3-4f56-838e-fbb787004fec
Lotery, Andrew J.
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
November 2008
Goverdhan, Srinivas V.
9ae32d5a-5c82-48a4-962d-1ed8acc3991e
Khakoo, Salim I.
6c16d2f5-ae80-4d9b-9100-6bfb34ad0273
Gaston, Hannah
89074e52-ad62-433a-b92b-1fd73c3772d7
Chen, Xiaoli
fba6c7fa-57f3-4f56-838e-fbb787004fec
Lotery, Andrew J.
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Goverdhan, Srinivas V., Khakoo, Salim I., Gaston, Hannah, Chen, Xiaoli and Lotery, Andrew J.
(2008)
Age related macular degeneration is associated with the HLA Cw*0701 genotype and the Natural Killer cell receptor AA haplotype.
Investigative Ophthalmology & Visual Science, 49 (11), .
(doi:10.1167/iovs.08-1837).
(PMID:18515573)
Abstract
PURPOSE. To determine the association of Human Leucocyte Antigen - HLA C and its cognate killer-cell immunoglobulin-like receptor (KIR) ligands with age related macular degeneration (AMD). Methods: HLA class I allele groups including the HLA C principal alleles were genotyped in a cohort of 104 AMD cases and 93 controls using the PCR-SSP.
METHOD. This cohort was then genotyped for 16 KIR genes by PCR-SSP. Frequencies of the tested HLA / KIR alleles were then compared between AMD patients and normal controls. HLA C1, Cw*07, Cw*0701 genotypes and their combinations with KIR genotypes/haplotypes were tested for association with AMD. P values were obtained using a 2-tailed chi-squared test and Bonferroni corrections applied for multiple testing (Pc).
RESULTS. The HLA Cw*0701 allele in combination with the inhibitory KIR AA haplotype was associated with AMD following logistic regression analysis (P=0.006, Pc=0.036, OR= 4.35, 95% CI =1.41-13.44).
CONCLUSIONS. The HLA Cw*0701 allele and KIR haplotype AA are associated with AMD. This genotype combination suggests that Natural killer cells have a role in the pathogenesis of AMD. Replication studies are required to confirm these novel HLA-KIR associations with AMD.
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e-pub ahead of print date: 30 May 2008
Published date: November 2008
Organisations:
Faculty of Medicine
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Local EPrints ID: 70140
URI: http://eprints.soton.ac.uk/id/eprint/70140
ISSN: 0146-0404
PURE UUID: 1a493a5c-4f60-4d9d-976a-2492ad8c4cfb
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Date deposited: 26 Jan 2010
Last modified: 14 Mar 2024 02:48
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Author:
Srinivas V. Goverdhan
Author:
Hannah Gaston
Author:
Xiaoli Chen
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