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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
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.
0146-0404
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
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), 5077-5082. (doi:10.1167/iovs.08-1837). (PMID:18515573)

Record type: Article

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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More information

e-pub ahead of print date: 30 May 2008
Published date: November 2008
Organisations: Faculty of Medicine

Identifiers

Local EPrints ID: 70140
URI: http://eprints.soton.ac.uk/id/eprint/70140
ISSN: 0146-0404
PURE UUID: 1a493a5c-4f60-4d9d-976a-2492ad8c4cfb
ORCID for Andrew J. Lotery: ORCID iD orcid.org/0000-0001-5541-4305

Catalogue record

Date deposited: 26 Jan 2010
Last modified: 10 Dec 2019 01:46

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