A case of bilateral endophthalmitis and carriage of  -defensin 1 44CC genotype

Carter, James; Churchill, Amanda J.; Gorman, C; Haynes, Richard

doi:10.1136/bjo.2006.111708

Cited by 4 publications

(4 citation statements)

References 7 publications

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“…When combined into a three‐SNP haplotype with −20G>A, there is a highly significant finding in that the haplotype −688C/−44C/−20A is associated strongly with endophthalmitis. Furthermore, we found this CCA haplotype in our previously reported case of bilateral endophthalmitis (Carter et al. 2007).…”

Section: Discussionsupporting

confidence: 75%

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β‐Defensin 1 haplotype associated with postoperative endophthalmitis

Carter¹,

West

Painter

et al. 2009

Acta Ophthalmologica

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Acta Ophthalmol. 2010: 88: 786–790 Abstract. Purpose: Endophthalmitis is a rare but sight‐threatening complication of intraocular surgery. β‐Defensins are antimicrobial peptides that appear to be important components of the ocular immune response. We propose that variation in defensin genes may alter susceptibility to endophthalmitis. Methods: Post‐cataract endophthalmitis patients (n = 28) and post‐cataract controls (n = 75) were recruited and DNA samples extracted. The β‐defensin 1 gene (DEFB1) was screened for single‐nucleotide polymorphisms (SNPs) using bidirectional sequencing. Case–control statistical assessment was undertaken for both the individual polymorphic loci observed and combined haplotypes using PHASE software. Results: We identified 19 SNPs and observed strong linkage disequilibrium within the gene. We found that the three‐SNP haplotype −688C/−44C/−20A was associated strongly with endophthalmitis [odds ratio (OR) = 8.88 (1.74, 45.42), corrected p = 0.0095]. Furthermore, we uncovered several trends, including increased prevalence of the −44CC genotype in the endophthalmitis group. Conclusion: We have shown previously that the −44CC SNP genotype was present in a single case of bilateral endophthalmitis. In this study, we found this genotype to be more common in the endophthalmitis group and a mini‐haplotype including this SNP was associated strongly with endophthalmitis. There is functional evidence that this genetic profile decreases transcription of the β‐defensin 1 peptide and could therefore reduce the innate ocular immune defence.

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Section: Discussionsupporting

confidence: 75%

“…Previously, we reported a case of bilateral endophthalmitis in which we identified a number of SNPs in β‐defensin 1 (Carter et al. 2007).…”

Section: Introductionmentioning

confidence: 99%

β‐Defensin 1 haplotype associated with postoperative endophthalmitis

Carter¹,

West

Painter

et al. 2009

Acta Ophthalmologica

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“…Gene copy number correlated with expression, suggesting that these variations may have significant consequences for the functioning of the immune system. DEFB1, the gene for hBD-1, only appears as a single copy but exhibits a number of single nucleotide polymorphisms which have been linked to a variety of disease conditions including chronic obstructive pulmonary disease, asthma, cancer and endophthalmitis [29,[57][58][59][60] .…”

Section: Introductionmentioning

confidence: 99%

The Role of Antimicrobial Peptides at the Ocular Surface

McDermott¹

2008

Ophthalmic Res

112

107

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Antimicrobial peptides (AMPs) such as defensins and cathelicidins are small peptides with broad-spectrum activity against bacteria, fungi and viruses. In addition, several AMPs modulate mammalian cell behaviours including migration, proliferation and cytokine production. This review describes findings from recent studies showing the presence of various AMPs at the human ocular surface and discusses their mechanism of antimicrobial action and potential non-microbicidal roles. Corneal and conjunctival epithelial cells produce β-defensins and the cathelicidin LL-37, whereas neutrophils, infiltrating in response to a specific stimulus, supply additional LL-37 as well as α-defensins. In vitro studies suggest that LL-37 and human β-defensin-3 are the most likely to have significant independent antimicrobial activity, while other AMPs may act synergistically to help protect the ocular surface from invading pathogens. Current evidence also supports a role for some AMPs in modulating wound healing responses. Although yet to be brought to fruition, AMPs hold significant potential as therapeutic agents for the prophylaxis and treatment of infection, promotion of wound healing and immune modulation.

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“…Interestingly, Carter et al . reported a case of bilateral endophthalmitis associated with the hBD-1 genotype -44CC, an allele previously shown to be associated with a predisposition to infection [93]. Endophthalmitis is a rare complication of cataract surgery.…”

Section: Role For Endogenous Host-defence Peptides In Eye Diseasesmentioning

confidence: 99%

Role of host-defence peptides in eye diseases

Kolar

McDermott

2011

Cell. Mol. Life Sci.

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The eye and its associated tissues including the lacrimal system and lids have evolved several defence mechanisms to prevent microbial invasion. Included among this armory are several host-defence peptides. These multifunctional molecules are being studied not only for their endogenous antimicrobial properties but also for their potential therapeutic effects. Here the current knowledge of host-defence peptide expression in the eye will be summarized. The role of these peptides in eye disease will be discussed with the primary focus being on infectious keratitis, inflammatory conditions including dry eye and wound healing. Finally the potential of using host-defence peptides and their mimetics/derivatives for the treatment and prevention of eye diseases is addressed.

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A case of bilateral endophthalmitis and carriage of -defensin 1 44CC genotype

Cited by 4 publications

References 7 publications

β‐Defensin 1 haplotype associated with postoperative endophthalmitis

β‐Defensin 1 haplotype associated with postoperative endophthalmitis

The Role of Antimicrobial Peptides at the Ocular Surface

Role of host-defence peptides in eye diseases

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