RT Journal Article
T1 Mitochondrial DNA haplogroup background affects LHON, but not suspected LHON, in chinese patients
A1 Zhang, A-Mei
A1 Jia, Xiaoyun
A1 Bi, Rui
A1 Salas Ellacuriaga, Antonio
A1 Li, Shiqiang
A1 Xiao, Xueshan
A1 Wang, Panfeng
A1 Guo, Xiangming
A1 Kong, Qing-Peng
A1 Zhang, Qingjiong
A1 Yao, Yong-Gang
AB Recent studies have shown that mtDNA background could affect the clinical expression of Leber hereditary optic neuropathy (LHON). We analyzed the mitochondrial DNA (mtDNA) variation of 304 Chinese patients with m.11778G>A (sample #1) and of 843 suspected LHON patients who lack the three primary mutations (sample #2) to discern mtDNA haplogroup effect on disease onset. Haplogroup frequencies in the patient group was compared to frequencies in the general Han Chinese population (n = 1,689; sample #3). The overall matrilineal composition of the suspected LHON population resembles that of the general Han Chinese population, suggesting no association with mtDNA haplogroup. In contrast, analysis of these LHON patients confirms mtDNA haplogroup effect on LHON. Specifically, the LHON sample significantly differs from the general Han Chinese and suspected LHON populations by harboring an extremely lower frequency of haplogroup R9, in particular of its main sub-haplogroup F (#1 vs. #3, P-value = 1.46×10−17, OR = 0.051, 95% CI: 0.016–0.162; #1 vs. #2, P-value = 4.44×10−17, OR = 0.049, 95% CI: 0.015–0.154; in both cases, adjusted P-value <10−5) and higher frequencies of M7b (#1 vs. #3, adjusted P-value = 0.001 and #1 vs. #2, adjusted P-value = 0.004). Our result shows that mtDNA background affects LHON in Chinese patients with m.11778G>A but not suspected LHON. Haplogroup F has a protective effect against LHON, while M7b is a risk factor.
PB PLOS
YR 2011
FD 2011
LK http://hdl.handle.net/10347/21886
UL http://hdl.handle.net/10347/21886
LA eng
NO Zhang A-M, Jia X, Bi R, Salas A, Li S, Xiao X, et al. (2011) Mitochondrial DNA Haplogroup Background Affects LHON, but Not Suspected LHON, in Chinese Patients. PLoS ONE 6(11): e27750. https://doi.org/10.1371/journal.pone.0027750
DS Minerva
RD 24 abr 2026