Haptoglobin and sickle cell polymorphisms and risk of active trachoma in Gambian children.
BACKGROUND:Susceptibility and resistance to trachoma, the leading infectious cause of blindness, have been associated with a range of host genetic factors. In vitro studies of the causative organism, Chlamydia trachomatis, demonstrate that iron availability regulates its growth, suggesting that host...
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doaj-67fd2305b639466dac6725c91275a2c02020-11-25T02:12:17ZengPublic Library of Science (PLoS)PLoS ONE1932-62032010-06-0156e1107510.1371/journal.pone.0011075Haptoglobin and sickle cell polymorphisms and risk of active trachoma in Gambian children.Mathilde SavyBranwen J HennigConor P DohertyAnthony J FulfordRobin BaileyMartin J HollandGiorgio SirugoKirk A RockettDominic P KwiatkowskiAndrew M PrenticeSharon E CoxBACKGROUND:Susceptibility and resistance to trachoma, the leading infectious cause of blindness, have been associated with a range of host genetic factors. In vitro studies of the causative organism, Chlamydia trachomatis, demonstrate that iron availability regulates its growth, suggesting that host genes involved in regulating iron status and/or availability may modulate the risk of trachoma. The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional polymorphism (Hp1/Hp2) plus the functional promoter SNPs -61A-C (rs5471) and -101C-G (rs5470), or sickle cell trait (HbAS, rs334) were associated with risk of active trachoma when stratified by age and sex, in rural Gambian children. METHODOLOGY AND PRINCIPAL FINDINGS:In two cross sectional surveys of children aged 6-78 months (n = 836), the prevalence of the clinical signs of active trachoma was 21.4%. Within boys, haplotype E (-101G, -61A, Hp1), containing the variant allele of the -101C-G promoter SNP, was associated with a two-fold increased risk of active trachoma (OR = 2.0 [1.17-3.44]). Within girls, an opposite association was non-significant (OR = 0.58 [0.32-1.04]; P = 0.07) and the interaction by sex was statistically significant (P = 0.001). There was no association between trachoma and HbAS. CONCLUSIONS:These data indicate that genetic variation in Hp may affect susceptibility to active trachoma differentially by sex in The Gambia.http://europepmc.org/articles/PMC2884021?pdf=render |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Mathilde Savy Branwen J Hennig Conor P Doherty Anthony J Fulford Robin Bailey Martin J Holland Giorgio Sirugo Kirk A Rockett Dominic P Kwiatkowski Andrew M Prentice Sharon E Cox |
spellingShingle |
Mathilde Savy Branwen J Hennig Conor P Doherty Anthony J Fulford Robin Bailey Martin J Holland Giorgio Sirugo Kirk A Rockett Dominic P Kwiatkowski Andrew M Prentice Sharon E Cox Haptoglobin and sickle cell polymorphisms and risk of active trachoma in Gambian children. PLoS ONE |
author_facet |
Mathilde Savy Branwen J Hennig Conor P Doherty Anthony J Fulford Robin Bailey Martin J Holland Giorgio Sirugo Kirk A Rockett Dominic P Kwiatkowski Andrew M Prentice Sharon E Cox |
author_sort |
Mathilde Savy |
title |
Haptoglobin and sickle cell polymorphisms and risk of active trachoma in Gambian children. |
title_short |
Haptoglobin and sickle cell polymorphisms and risk of active trachoma in Gambian children. |
title_full |
Haptoglobin and sickle cell polymorphisms and risk of active trachoma in Gambian children. |
title_fullStr |
Haptoglobin and sickle cell polymorphisms and risk of active trachoma in Gambian children. |
title_full_unstemmed |
Haptoglobin and sickle cell polymorphisms and risk of active trachoma in Gambian children. |
title_sort |
haptoglobin and sickle cell polymorphisms and risk of active trachoma in gambian children. |
publisher |
Public Library of Science (PLoS) |
series |
PLoS ONE |
issn |
1932-6203 |
publishDate |
2010-06-01 |
description |
BACKGROUND:Susceptibility and resistance to trachoma, the leading infectious cause of blindness, have been associated with a range of host genetic factors. In vitro studies of the causative organism, Chlamydia trachomatis, demonstrate that iron availability regulates its growth, suggesting that host genes involved in regulating iron status and/or availability may modulate the risk of trachoma. The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional polymorphism (Hp1/Hp2) plus the functional promoter SNPs -61A-C (rs5471) and -101C-G (rs5470), or sickle cell trait (HbAS, rs334) were associated with risk of active trachoma when stratified by age and sex, in rural Gambian children. METHODOLOGY AND PRINCIPAL FINDINGS:In two cross sectional surveys of children aged 6-78 months (n = 836), the prevalence of the clinical signs of active trachoma was 21.4%. Within boys, haplotype E (-101G, -61A, Hp1), containing the variant allele of the -101C-G promoter SNP, was associated with a two-fold increased risk of active trachoma (OR = 2.0 [1.17-3.44]). Within girls, an opposite association was non-significant (OR = 0.58 [0.32-1.04]; P = 0.07) and the interaction by sex was statistically significant (P = 0.001). There was no association between trachoma and HbAS. CONCLUSIONS:These data indicate that genetic variation in Hp may affect susceptibility to active trachoma differentially by sex in The Gambia. |
url |
http://europepmc.org/articles/PMC2884021?pdf=render |
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