Mitochondrial haplogroup background may influence Southeast Asian G11778A Leber hereditary optic neuropathy
| Autor: | Yutthana Joyjinda, Nopasak Phasukkijwatana, Supannee Kaewsutthi, Aung Win Tun, Patcharee Lertrit, Wanicha Chuenkongkaew, Bussaraporn Kunhapan, Bhoom Suktitipat |
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| Rok vydání: | 2011 |
| Předmět: |
Adult
Male Mitochondrial DNA genetic structures Adolescent DNA Mutational Analysis Visual Acuity Pedigree chart Optic Atrophy Hereditary Leber Biology Haploidy Southeast asian DNA Mitochondrial Haplogroup Young Adult Asian People Humans Genetic Predisposition to Disease Age of Onset Child Retrospective Studies Genetics Incidence Confounding nutritional and metabolic diseases NADH Dehydrogenase Middle Aged Thailand eye diseases Heteroplasmy Mitochondria Pedigree Survival Rate Phenotype Child Preschool Mutation Female Age of onset Human mitochondrial DNA haplogroup Follow-Up Studies |
| Zdroj: | Investigative ophthalmologyvisual science. 52(7) |
| ISSN: | 1552-5783 |
| Popis: | PURPOSE: To investigate the role of mitochondrial DNA (mt DNA) background on the expression of Leber hereditary optic neuropathy (LHON) in Southeast Asian carriers of the G11778A mutation. METHODS: Complete mtDNA sequences were analyzed from 53 unrelated Southeast Asian G11778A LHON pedigrees in Thailand and 105 normal Thai controls, and mtDNA haplogroups were determined. Clinical phenotypes were tested for association with mtDNA haplogroup, with adjustment for potential confounders such as sex and age at onset. RESULTS: mtDNA subhaplogroup B was significantly associated with LHON. Follow-up analysis narrowed the association down to subhaplogroup B5a1 (P = 0.008). Survival analyses with Cox's proportional hazards modeling on 469 samples (91 affected and 378 unaffected), adjusted for sex and heteroplasmy, revealed that haplogroup B5a1 tended to increase the risk of visual loss, but the trend was not statistically significant. Conversely, haplogroup F, the second most common haplogroup in the control population, was the least frequent haplogroup in LHON. This negative association was narrowed down to subhaplogroup F1 (P = 0.00043), suggesting that haplogroup F1 confers a protective effect. The distributions of sex, age at onset and heteroplasmy were not significantly different among haplogroups. CONCLUSIONS: The specific mtDNA background B5a1 was significantly associated with Southeast Asian G11778A LHON and appeared to modify the risk of visual loss. |
| Databáze: | OpenAIRE |
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