Mitochondrial DNA copy number, but not haplogroup is associated with keratoconus in Han Chinese population.
Exp Eye Res
; 132: 59-63, 2015 Mar.
Article
en En
| MEDLINE
| ID: mdl-25613073
ABSTRACT
Oxidative stress may play a role in the pathogenesis of keratoconus (KC). Mitochondrial DNA (mtDNA) is closely related to mitochondrion function, and variations may affect the generation of reactive oxygen species (ROS) and be involved in the pathogenesis of KC. To test whether mtDNA background and copy number confer genetic susceptibility to KC in the Han Chinese population, we performed this association study. We analyzed mtDNA sequence variations in 210 KC patients and 309 matched individuals from China, and classified each subject by haplogroup. Mitochondrial DNA copy number was measured in a subset of these subjects (193 patients and 103 controls). Comparison of matrilineal components of the cases and control populations revealed no significant difference. However, measurement of mtDNA copy number showed that KC patients had significantly lower mtDNA copy numbers than controls (P = 0.0002), even when age, gender, and mtDNA background were considered. Our results suggest that mtDNA copy number, but not haplogroup, is associated with keratoconus, and may contribute to its pathogenesis.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Haplotipos
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ADN Mitocondrial
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Estrés Oxidativo
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Predisposición Genética a la Enfermedad
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Queratocono
Tipo de estudio:
Observational_studies
/
Risk_factors_studies
Límite:
Adult
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Female
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Humans
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Male
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Middle aged
País como asunto:
Asia
Idioma:
En
Año:
2015
Tipo del documento:
Article