MtDNA haplogroups M7 and B in southwestern Han Chinese at risk for acute mountain sickness

• Published in: Mitochondrion 2011-07, Vol.11 (4), p.553-558
• Main Authors: Li, Fu-Xiang, Ji, Fu-Yun, Zheng, Shi-Zhen, Yao, Wei, Xiao, Zhen-Liang, Qian, Gui-Sheng
• Format: Article
• Language: English
• Subjects: Acute Disease; Adolescent; Altitude; Altitude Sickness - ethnology; Altitude Sickness - genetics; Asian Continental Ancestry Group - genetics; Body Mass Index; Case-Control Studies; DNA, Mitochondrial - analysis; DNA, Mitochondrial - genetics; Genetic Predisposition to Disease; Haplotypes; Humans; Male; Mitochondria - genetics; Reactive Oxygen Species - metabolism; Risk Factors; Young Adult
• ISSN: 1567-7249; 1872-8278
• DOI: 10.1016/j.mito.2011.02.003

We conducted a case-control study to investigate the association of mitochondrial DNA (mtDNA) haplogroups with acute mountain sickness (AMS) in Han Chinese from southwestern (SW) China. Pearson's chi-square test or Fisher's exact test revealed significant reduction of mtDNA haplogroups D and M9, while a significant increase of haplogroup M7 in AMS subjects compared with non-AMS subjects. The multivariate logistic regression analysis after adjustment for body mass index (BMI), a risk factor of AMS in the present study, showed that both D and M9 were associated with significantly decreased risk of AMS, while M7 was associated with a significantly increased risk of AMS (OR=0.605, p=0.000; OR=0.037, p=0.001, and OR=2.419, p=0.001, respectively). In addition, further analysis stratified by the AMS severities indicated that haplogroup B was correlated with a 2.41-folds increased risk of developing severe AMS (95%C.I=1.288-4.514, p=0.006). Our findings provide evidence that, in SW Han Chinese, mtDNA haplogroups D and M9 are related to individual tolerance to AMS, while haplogroups M7 and B are risk factors for AMS.