Genetic Variation in MMP-9 and Risk of Trachoma Scarring
Author Information
Author(s): Natividad Angels, Cooke Graham, Holland Martin J, Burton Matthew J, Joof Hassan M, Rockett Kirk, Kwiatkowski Dominic P, Mabey David CW, Bailey Robin L
Primary Institution: London School of Hygiene & Tropical Medicine
Hypothesis
Genetic variation in coding regions of MMP9 affects the risk of scarring sequelae of trachoma.
Conclusion
The study found that a specific genetic mutation in the MMP9 gene is associated with a reduced risk of severe scarring from trachoma.
Supporting Evidence
- The Q279R mutation in the MMP9 gene was associated with lower risk for severe disease sequelae.
- Heterozygotes for the Q279R mutation had a significantly reduced risk of both scarring trachoma and trichiasis.
- The study involved a large sample size of 1315 subjects from endemic areas.
Takeaway
Some people have a gene that helps protect their eyes from getting really hurt by a common eye infection, which can cause blindness.
Methodology
The study genotyped 651 case-control pairs for SNPs in the MMP9 gene using the Sequenom system and performed conditional logistic regression analysis.
Limitations
The study may have limited power for detecting effects in certain genotype groups due to sample size.
Participant Demographics
Participants were recruited from trachoma endemic villages in The Gambia, including 651 subjects with scarring trachoma and matched controls.
Statistical Information
P-Value
0.012
Confidence Interval
95%CI = 0.59, 0.94
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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