van der Walt Joelle M, Nicodemus Kristin K, Martin Eden R, Scott William K, Nance Martha A, Watts Ray L, Hubble Jean P, Haines Jonathan L, Koller William C, Lyons Kelly, Pahwa Rajesh, Stern Matthew B, Colcher Amy, Hiner Bradley C, Jankovic Joseph, Ondo William G, Allen Fred H, Goetz Christopher G, Small Gary W, Mastaglia Frank, Stajich Jeffrey M, McLaurin Adam C, Middleton Lefkos T, Scott Burton L, Schmechel Donald E, Pericak-Vance Margaret A, Vance Jeffery M
Department of Medicine, and Center for Human Genetics, Institute for Genome Sciences and Policy, Duke University Medical Center, Durham, NC 27710, USA.
Am J Hum Genet. 2003 Apr;72(4):804-11. doi: 10.1086/373937. Epub 2003 Feb 28.
Mitochondrial (mt) impairment, particularly within complex I of the electron transport system, has been implicated in the pathogenesis of Parkinson disease (PD). More than half of mitochondrially encoded polypeptides form part of the reduced nicotinamide adenine dinucleotide dehydrogenase (NADH) complex I enzyme. To test the hypothesis that mtDNA variation contributes to PD expression, we genotyped 10 single-nucleotide polymorphisms (SNPs) that define the European mtDNA haplogroups in 609 white patients with PD and 340 unaffected white control subjects. Overall, individuals classified as haplogroup J (odds ratio [OR] 0.55; 95% confidence interval [CI] 0.34-0.91; P=.02) or K (OR 0.52; 95% CI 0.30-0.90; P=.02) demonstrated a significant decrease in risk of PD versus individuals carrying the most common haplogroup, H. Furthermore, a specific SNP that defines these two haplogroups, 10398G, is strongly associated with this protective effect (OR 0.53; 95% CI 0.39-0.73; P=.0001). SNP 10398G causes a nonconservative amino acid change from threonine to alanine within the NADH dehydrogenase 3 (ND3) of complex I. After stratification by sex, this decrease in risk appeared stronger in women than in men (OR 0.43; 95% CI 0.27-0.71; P=.0009). In addition, SNP 9055A of ATP6 demonstrated a protective effect for women (OR 0.45; 95% CI 0.22-0.93; P=.03). Our results suggest that ND3 is an important factor in PD susceptibility among white individuals and could help explain the role of complex I in PD expression.
线粒体(mt)功能损害,尤其是电子传递系统复合体I内的功能损害,与帕金森病(PD)的发病机制有关。超过一半的线粒体编码多肽构成了还原型烟酰胺腺嘌呤二核苷酸脱氢酶(NADH)复合体I酶的一部分。为了验证线粒体DNA(mtDNA)变异导致PD表达的假说,我们对609例白人PD患者和340例未受影响的白人对照受试者中定义欧洲mtDNA单倍群的10个单核苷酸多态性(SNP)进行了基因分型。总体而言,与携带最常见单倍群H的个体相比,被归类为单倍群J(优势比[OR]0.55;95%置信区间[CI]0.34 - 0.91;P = 0.02)或K(OR 0.52;95% CI 0.30 - 0.90;P = 0.02)的个体患PD的风险显著降低。此外,定义这两个单倍群的一个特定SNP,即10398G,与这种保护作用密切相关(OR 0.53;95% CI 0.39 - 0.73;P = 0.0001)。SNP 10398G在复合体I的NADH脱氢酶3(ND3)内导致了从苏氨酸到丙氨酸的非保守氨基酸变化。按性别分层后,这种风险降低在女性中比在男性中更为明显(OR 0.43;95% CI 0.27 - 0.71;P = 0.0009)。此外,ATP6的SNP 9055A对女性表现出保护作用(OR 0.45;95% CI 0.22 - 0.93;P = 0.03)。我们的结果表明,ND3是白人个体中PD易感性的一个重要因素,并且有助于解释复合体I在PD表达中的作用。