title: Mitochondrial DNA haplogroup Y is associated to Leigh syndrome in Chinese population.
abstract: Although Leigh syndrome (LS) is a well characterized clinical mitochondrial disorder; the exact mutation is not found in all cases and it is not clear whether matrilineal background has contributed to this disease. To address this issue, we extensively studied and compared the haplogroup composition of a sample of 171 Chinese LS patients with that of 1597 controls. Our results show that haplogroup Y may increase the risk of LS in Chinese by 2.867 fold (95% CI=1.135-7.240, P=0.020). Haplogroup B5 has also this trend (1.737 fold, 95% CI=0.961-3.139), but with a borderline P-value (P=0.065). Both haplogroups belong to macro-haplogroup N and share a common reverse mutation on nucleotide position 10398 (A10398G). In fact, the combined haplogroup N with 10398G is also associated with an increased risk for LS (OR=1.882, 95% CI=1.134-3.124, P=0.013).
authors.affiliation: State Key Laboratory of Genetic Resources and Evolution and Yunnan Laboratory of Molecular Biology of Domestic Animals, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China.
authors.forename: Xiao-Dan
authors.initials: XD
authors.lastname: Hao
authors.forename: Yan-Ling
authors.initials: YL
authors.lastname: Yang
authors.forename: Nelson Leung Sang
authors.initials: NL
authors.lastname: Tang
authors.forename: Qing-Peng
authors.initials: QP
authors.lastname: Kong
authors.forename: Shi-Fang
authors.initials: SF
authors.lastname: Wu
authors.forename: Ya-Ping
authors.initials: YP
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D044466:Asian People; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002681:China; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007888:Leigh Disease / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation
chemical_list: D004272:DNA, Mitochondrial