Innate immunity in ocular Chlamydia trachomatis infection: contribution of IL8 and CSF2 gene variants to risk of trachomatous scarring in ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2009-12-16

AUTHORS

Angels Natividad, Jeremy Hull, Gaia Luoni, Martin Holland, Kirk Rockett, Hassan Joof, Matthew Burton, David Mabey, Dominic Kwiatkowski, Robin Bailey

ABSTRACT

BACKGROUND: Trachoma, a chronic keratoconjunctivitis caused by Chlamydia trachomatis, is the world's commonest infectious cause of blindness. Blindness is due to progressive scarring of the conjunctiva (trachomatous scarring) leading to in-turning of eyelashes (trichiasis) and corneal opacification. We evaluated the contribution of genetic variation across the chemokine and cytokine clusters in chromosomes 4q and 5q31 respectively to risk of scarring trachoma and trichiasis in a large case-control association study in a Gambian population. METHODS: Linkage disequilibrium (LD) mapping was used to investigate risk effects across the 4q and 5q31 cytokine clusters in relation to the risk of scarring sequelae of ocular Ct infection. Disease association and epistatic effects were assessed in a population based study of 651 case-control pairs by conditional logistic regression (CLR) analyses. RESULTS: LD mapping suggested that genetic effects on risk within these regions mapped to the pro-inflammatory innate immune genes interleukin 8 (IL8) and granulocyte-macrophage colony stimulatory factor (CSF2) loci. The IL8-251 rare allele (IL8-251 TT) was associated with protection from scarring trachoma (OR = 0.29 p = 0.027). The intronic CSF2_27348 A allele in chromosome 5q31 was associated with dose dependent protection from trichiasis, with each copy of the allele reducing risk by 37% (p = 0.005). There was evidence of epistasis, with effects at IL8 and CSF2 loci interacting with those previously reported at the MMP9 locus, a gene acting downstream to IL8 and CSF2 in the inflammatory cascade. CONCLUSION: innate immune response SNP-haplotypes are linked to ocular Ct sequelae. This work illustrates the first example of epistatic effects of two genes on trachoma. More... »

PAGES

138-138

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/1471-2350-10-138

DOI

http://dx.doi.org/10.1186/1471-2350-10-138

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1022632507

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/20015396


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45 schema:description BACKGROUND: Trachoma, a chronic keratoconjunctivitis caused by Chlamydia trachomatis, is the world's commonest infectious cause of blindness. Blindness is due to progressive scarring of the conjunctiva (trachomatous scarring) leading to in-turning of eyelashes (trichiasis) and corneal opacification. We evaluated the contribution of genetic variation across the chemokine and cytokine clusters in chromosomes 4q and 5q31 respectively to risk of scarring trachoma and trichiasis in a large case-control association study in a Gambian population. METHODS: Linkage disequilibrium (LD) mapping was used to investigate risk effects across the 4q and 5q31 cytokine clusters in relation to the risk of scarring sequelae of ocular Ct infection. Disease association and epistatic effects were assessed in a population based study of 651 case-control pairs by conditional logistic regression (CLR) analyses. RESULTS: LD mapping suggested that genetic effects on risk within these regions mapped to the pro-inflammatory innate immune genes interleukin 8 (IL8) and granulocyte-macrophage colony stimulatory factor (CSF2) loci. The IL8-251 rare allele (IL8-251 TT) was associated with protection from scarring trachoma (OR = 0.29 p = 0.027). The intronic CSF2_27348 A allele in chromosome 5q31 was associated with dose dependent protection from trichiasis, with each copy of the allele reducing risk by 37% (p = 0.005). There was evidence of epistasis, with effects at IL8 and CSF2 loci interacting with those previously reported at the MMP9 locus, a gene acting downstream to IL8 and CSF2 in the inflammatory cascade. CONCLUSION: innate immune response SNP-haplotypes are linked to ocular Ct sequelae. This work illustrates the first example of epistatic effects of two genes on trachoma.
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53 CSF2 gene variants
54 CSF2 loci
55 CT infection
56 Chlamydia trachomatis
57 Chlamydia trachomatis infection
58 Ct sequelae
59 Gambian population
60 Gambians
61 IL8
62 IL8-251 rare allele
63 LD mapping
64 MMP9 locus
65 SNP haplotypes
66 alleles
67 analysis
68 association
69 association studies
70 blindness
71 cascade
72 case-control association study
73 case-control pairs
74 cause
75 chemokines
76 chromosome 4q
77 chromosome 5q31
78 chronic keratoconjunctivitis
79 clusters
80 colony stimulatory factor (CSF2) loci
81 common infectious cause
82 conditional logistic regression analysis
83 conjunctiva
84 contribution
85 contribution of IL8
86 copies
87 corneal opacification
88 cytokine cluster
89 dependent protection
90 disease associations
91 disequilibrium mapping
92 dose-dependent protection
93 effect
94 epistasis
95 epistatic effects
96 evidence
97 evidence of epistasis
98 example
99 eyelashes
100 factor (CSF2) loci
101 first example
102 gene variants
103 genes
104 genes interleukin 8
105 genetic effects
106 genetic variation
107 granulocyte-macrophage colony stimulatory factor (CSF2) loci
108 immune genes interleukin 8
109 immune response SNP-haplotypes
110 immunity
111 infection
112 infectious cause
113 inflammatory cascade
114 innate immune response SNP-haplotypes
115 innate immunity
116 interleukin-8
117 keratoconjunctivitis
118 large case-control association study
119 linkage disequilibrium mapping
120 loci
121 logistic regression analysis
122 mapping
123 ocular Chlamydia trachomatis infection
124 ocular Ct infection
125 ocular Ct sequelae
126 opacification
127 pairs
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129 pro-inflammatory innate immune genes interleukin 8
130 progressive scarring
131 protection
132 rare alleles
133 region
134 regression analysis
135 relation
136 response SNP-haplotypes
137 risk
138 risk effects
139 scarring
140 scarring sequelae
141 scarring trachoma
142 sequelae
143 stimulatory factor (CSF2) loci
144 study
145 trachoma
146 trachomatis
147 trachomatis infection
148 trachomatous scarring
149 trichiasis
150 turning
151 turning of eyelashes
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