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Mitochondrial Haplogroup Background May Influence Genetics Mitochondrial Haplogroup Background May Influence Southeast Asian G11778A Leber Hereditary Optic Neuropathy Supannee Kaewsutthi,1,2 Nopasak Phasukkijwatana,2,3 Yutthana Joyjinda,1 Wanicha Chuenkongkaew,3,4 Bussaraporn Kunhapan,1 Aung Win Tun,1 Bhoom Suktitipat,1 and Patcharee Lertrit1,4 PURPOSE. To investigate the role of mitochondrial DNA markedly incomplete penetrance. The three most common (mt DNA) background on the expression of Leber hereditary primary LHON mutations, G3460A in ND1, G11778A in ND4, optic neuropathy (LHON) in Southeast Asian carriers of the and T14484C in ND6, account for more than 90% of LHON G11778A mutation. cases worldwide2 with G11778A being the most common. In 3 4–6 METHODS. Complete mtDNA sequences were analyzed from 53 Thailand and other Asian countries, G11778A is responsi- unrelated Southeast Asian G11778A LHON pedigrees in Thai- ble for approximately 90% of LHON families. land and 105 normal Thai controls, and mtDNA haplogroups The sex bias and the marked incomplete penetrance of were determined. Clinical phenotypes were tested for associ- LHON indicate that there must be other factors that modify disease expression. Mitochondrial background,7–8 nuclear ation with mtDNA haplogroup, with adjustment for potential 9–11 12 confounders such as sex and age at onset. background, and environmental factors have been impli- cated in disease expression, although the precise mechanisms RESULTS. mtDNA subhaplogroup B was significantly associated of pathogenesis are largely undefined. with LHON. Follow-up analysis narrowed the association down ϭ It is well-known that European haplogroup J is associated to subhaplogroup B5a1 (P 0.008). Survival analyses with with LHON,13–15 and recently a large pan-European study Cox’s proportional hazards modeling on 469 samples (91 af- showed that the risk of visual loss was increased in haplogroup fected and 378 unaffected), adjusted for sex and heteroplasmy, J2 for LHON cases with G11778A and in haplogroup J1 for revealed that haplogroup B5a1 tended to increase the risk of cases with T14484C.8 It is believed that interactions between visual loss, but the trend was not statistically significant. Con- multiple alleles on haplogroup J and the primary LHON muta- versely, haplogroup F, the second most common haplogroup tion increase susceptibility to visual loss, although no clear in the control population, was the least frequent haplogroup in evidence has been demonstrated in this regard. However, LHON. This negative association was narrowed down to sub- ϭ LHON with the G11778A mutation is also found in different haplogroup F1 (P 0.00043), suggesting that haplogroup F1 mtDNA lineages in other populations, including in Southeast confers a protective effect. The distributions of sex, age at Asia where there is essentially no haplogroup J.16–19 Yet, onset and heteroplasmy were not significantly different among G11778A LHON in Southeast Asians as prevalent as in Europe- haplogroups. ans. A recent study of LHON in the Chinese also provided CONCLUSIONS. The specific mtDNA background B5a1 was signif- evidence that haplogroups M7b1Ј2 and M8a influence the icantly associated with Southeast Asian G11778A LHON and clinical expression of LHON.7 Given the different ethnic ori- appeared to modify the risk of visual loss. (Invest Ophthalmol gins of Southeast Asians and Chinese, it is likely that there are Vis Sci. 2011;52:4742–4748) DOI:10.1167/iovs.10-5816 also different mtDNA backgrounds modulating G11778A LHON expression in Southeast Asia. eber hereditary optic neuropathy (LHON, OMIM 535000) In the present study, mtDNA haplogroups were determined L is a maternally inherited optic neuropathy, predominantly by complete mtDNA sequencing, which allows more accurate affecting young men.1 The mitochondrial DNA (mtDNA) and more specific haplogroup determination. Haplogroups LHON mutation is necessary but not sufficient for disease were tested for association with a variety of clinical pheno- expression, as reflected by the strict maternal inheritance and types to identify potential mtDNA variants that influence LHON in Southeast Asian carriers of the G11778A mutation. 1 3 From the Departments of Biochemistry and Ophthalmology and METHODS the 4Siriraj Neurogenetics Network, Faculty of Medicine Siriraj Hospi- tal, Mahidol University, Bangkok, Thailand. Blood Samples 2These authors contributed equally to the work presented here and should therefore be regarded as equivalent authors. Blood samples from patients with optic neuropathy who had clinically Supported by two Siriraj Research Development Fund Grants suspected LHON were sent to our laboratory for diagnostic work-up. 001(III)/50 and R015233001. From 1994 to 2007, individuals from 60 LHON pedigrees with the Submitted for publication May 3, 2010; revised January 6, 2011; G11778A mutation were identified and recruited into the study. All accepted February 18, 2011. these pedigrees are of Thai or Chinese-Thai ethnic origin, except for Disclosure: S. Kaewsutthi, None; N. Phasukkijwatana, None; one pedigree of Indian ethnic origin. The pedigrees were accessed Y. Joyjinda, None; W. Chuenkongkaew, None; B. Kunhapan, None; A.W. Tun, None; B. Suktitipat, None; P. Lertrit, None through the probands, and they were scattered across different regions Corresponding author: Patcharee Lertrit, Department of Biochem- of Thailand. We performed field investigations of the families, and istry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok blood samples were collected from other family members. In each field 10700, Thailand; [email protected]. investigation, details of familial relationships were confirmed, and eye Investigative Ophthalmology & Visual Science, June 2011, Vol. 52, No. 7 4742 Copyright 2011 The Association for Research in Vision and Ophthalmology, Inc. Downloaded from iovs.arvojournals.org on 09/25/2021 IOVS, June 2011, Vol. 52, No. 7 Mitochondrial DNA Background in Southeast Asian LHON 4743 examinations were performed by a neuro-ophthalmologist (WLC). Haplogroup Assignment These included Snellen’s visual acuity test, Ishihara’s color vision test, Complete mtDNA sequences of the samples were aligned with the and a funduscopic examination. Nine unexamined maternal relatives revised Cambridge Reference Sequence (rCRS)22 using Clustal W mul- were classified as affected, on the basis of a reliable history of acute tiple alignment.23 Nucleotide sequences differing from the rCRS were visual loss without other known cause. G11778A mutation status was manually rechecked from the electropherograms. Nucleotide variants determined in all collected blood samples, and one sample from each were used to assign mtDNA haplogroups according to a Phylotree.org- family was selected for sequencing the entire mtDNA genome. Global human mtDNA Phylogenetic Tree Build 7.24 Blood samples were also obtained from 105 unrelated normal control subjects across Thailand. The normal controls were healthy Statistical Analysis and were recruited from five different regions of Thailand: the north- ern, the southern, the western, the eastern, and the central. To ensure For comparing between proportions of individuals in the control and that the control subjects represented region-specific modern Thai LHON groups, ␹2 tests were used (or Fisher’s exact test when appro- samples, they were required to have maternal ancestors who had priate). The following criteria were applied to minimize ascertainment resided in the same region for at least two generations. The whole bias. First, 13 families with only one affected proband and little pedi- mtDNA genome of these samples was sequenced to assign mtDNA gree information were excluded. To avoid uncertainty about G11778A haplogroups. The study adhered to the tenets of the Declaration of status in distantly related, unexamined individuals, we included only Helsinki and was approved by the Siriaj Institutional Review Board first-degree maternal relatives (parents, siblings, or offspring) of indi- (SIRB), Mahidol University, Bangkok, Thailand, and all blood samples viduals whose mtDNA was tested and first-degree maternal relatives of were obtained with informed consent. unexamined affected individuals. To reduce selection bias in favor of affected persons, affected individuals and their siblings were included only if there was complete information on pedigree structure and Determination of the G11778A Mutation affection status for the whole sibship. Applying these filtering criteria mtDNA was isolated from the leukocytes in a whole-blood sample of resulted in 469 samples from 40 families, comprising 91 affected and each individual, by using the standard phenol-chloroform protocol. 378 unaffected and 229 males and 240 females. Since sex and hetero- The primary G11778A mutation was detected by polymerase chain plasmy appeared to be the predictors of disease expression, to study reaction–restriction fragment length polymorphism (PCR-RFLP) analy- the effects of mtDNA haplogroups on LHON expression, we per- ses, as described in Sudoyo et al.20 The heteroplasmy of the G11778A formed multivariate analyses to adjust for the confounding effects of mutation was quantitated in the first 30 pedigrees of our series by a those two predictors. We used survival analysis with Cox’s propor- method of radioactive restriction analysis modified from that described tional hazards modeling on our data set. The analysis was performed 25 by Moraes et al.,21 In brief, 35S-dATP was added to the PCR reaction at using the R statistical program. Survival time was
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