| Mitochondrial DNA Haplogroup Background Affects LHON, but Not Suspected LHON, in Chinese Patients | |
| Zhang AM1,5; Jia XY2; Bi R1,5; Salas A3; Li SQ2; Xiao XS2; Wang PF2; Guo XM2; Kong QP4; Zhang QJ*2; Yao YG*1; qingjiongzhang@yahoo.com; ygyaozh@yahoo.com | |
| 2011 | |
| 发表期刊 | PLOS ONE
 |
| 卷号 | 6期号:11页码:e27750 |
| 合作性质 | 其它 |
| 摘要 | 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 = 1.46x10(-17), OR = 0.051, 95% CI: 0.016-0.162; # 1 vs. # 2, P-value = 4.44x10(-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. |
| 资助者 | This work was supported by the Ministry of Science and Technology of China (2011CB910900), the National Natural Science Foundation of China (30925021), Yunnan Province (2009CI119), and Guangdong Province (2009B091300150) ; This work was supported by the Ministry of Science and Technology of China (2011CB910900), the National Natural Science Foundation of China (30925021), Yunnan Province (2009CI119), and Guangdong Province (2009B091300150) ; This work was supported by the Ministry of Science and Technology of China (2011CB910900), the National Natural Science Foundation of China (30925021), Yunnan Province (2009CI119), and Guangdong Province (2009B091300150) ; This work was supported by the Ministry of Science and Technology of China (2011CB910900), the National Natural Science Foundation of China (30925021), Yunnan Province (2009CI119), and Guangdong Province (2009B091300150) |
| 收录类别 | SCI |
| 语种 | 英语 |
| 资助者 | This work was supported by the Ministry of Science and Technology of China (2011CB910900), the National Natural Science Foundation of China (30925021), Yunnan Province (2009CI119), and Guangdong Province (2009B091300150) ; This work was supported by the Ministry of Science and Technology of China (2011CB910900), the National Natural Science Foundation of China (30925021), Yunnan Province (2009CI119), and Guangdong Province (2009B091300150) ; This work was supported by the Ministry of Science and Technology of China (2011CB910900), the National Natural Science Foundation of China (30925021), Yunnan Province (2009CI119), and Guangdong Province (2009B091300150) ; This work was supported by the Ministry of Science and Technology of China (2011CB910900), the National Natural Science Foundation of China (30925021), Yunnan Province (2009CI119), and Guangdong Province (2009B091300150) |
| 文献类型 | 期刊论文 |
| 条目标识符 | http://ir.kiz.ac.cn/handle/353002/6851 |
| 专题 | 科研部门_疾病机理遗传学和进化医学学科组（姚永刚） 科研部门_动物模型与人类重大疾病机理重点实验室 遗传资源与进化国家重点实验室 科研部门_分子人类学（孔庆鹏） |
| 通讯作者 | qingjiongzhang@yahoo.com; ygyaozh@yahoo.com |
| 作者单位 | 1.Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, China 2.State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China 3.Unidade de Xene ´tica, Instituto de Medicina Legal and Departamento de Anatomı ´a Patolo ´xica e Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain 4.State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China 5.Graduate School of the Chinese Academy of Sciences, Beijing, China |
| 推荐引用方式 GB/T 7714 | Zhang AM,Jia XY,Bi R,et al. Mitochondrial DNA Haplogroup Background Affects LHON, but Not Suspected LHON, in Chinese Patients[J]. PLOS ONE,2011,6(11):e27750. |
| APA | Zhang AM.,Jia XY.,Bi R.,Salas A.,Li SQ.,...&ygyaozh@yahoo.com.(2011).Mitochondrial DNA Haplogroup Background Affects LHON, but Not Suspected LHON, in Chinese Patients.PLOS ONE,6(11),e27750. |
| MLA | Zhang AM,et al."Mitochondrial DNA Haplogroup Background Affects LHON, but Not Suspected LHON, in Chinese Patients".PLOS ONE 6.11(2011):e27750. |
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