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Experimental Gerontology journal homepage: www.elsevier.com/locate/expgero.

Absence of Association Between Mitochondrial DNA C150T Polymorphism and Longevity in a Han Chinese Population

Hui Pan a,b,c, Qing-peng Kong a,b, Yao-ting Cheng a,b,c, Shi-gang Lian d, Juan Yang d, Shou-jun Gao e, Liang-you Xu e, Ya-ping Zhang a,b

a State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China 

b Laboratory for Conservation and Utilization of Bio-resource, Yunnan University, Kunming 650091, China 

c Graduate University of the Chinese Academy of Sciences, Beijing 100049, China 

d People's Hospital of Dujiangyan City, Dujiangyan 611830, China 

e Dujiangyan Longevity Research Centre, Dujiangyan 611830, China 

Human longevity has been associated with mitochondrial DNA (mtDNA) coding region polymorphisms as well as the C150T polymorphism in the non-coding region in previous studies, especially in Europeans. This study investigated the potential association between the mtDNA C150T polymorphism and longevity in a Han Chinese population. Leukocyte mtDNAs from two groups of a Han Chinese population living in Dujiangyan city of Sichuan province - including 556 longevous individuals (90-108 years old) and 403 unrelated controls - were analyzed. mtDNA haplogroups were determined by sequencing control regions and restriction fragment length polymorphisms (RFLPs) in coding regions. Our results did not show a universal association between the mitochondrial C150T polymorphism and longevity in this population. Even when mtDNA haplogroups defined by C150T and gender were taken into account, there was no significant association with longevity. In conclusion, the mtDNA C150T polymorphism could not present an accumulation in an elderly Han Chinese population. Previous association studies might have been influenced by nuclear DNA and/or environmental factors. 

2011 Elsevier Inc. All rights reserved.

Introduction

Numerous studies have investigated the putative association between the C150T mutation and longevity in different populations, leading to paradoxical findings. These studies have motivated broader investigations to clarify whether the C150T mutation contributes to human longevity and whether the association is universal or unique to particular ethnic groups. Most studies have focused on European populations, including Italian (Dato et al., 2004; De Benedictis et al., 1999; Rose et al., 2007), Finnish (Niemi et al., 2003, 2005), Irish (Ross et al., 2001), Spanish (Dominguez-Garrido et al., 2009), and Ashkenazi Jewish populations (Iwata et al., 2007). Populations from Japan (Niemi et al., 2005) and Xinjiang province in China (Ren et al., 2008) have also been investigated, but the former study was limited by a small sample size, and the latter was limited to Uygur subjects. To our knowledge, no previous study has investigated the putative association between the C150T mutation and longevity in a Han Chinese population, which is the largest ethnic group in the world.

The relationship between the human ageing process and mitochondrial DNA (mtDNA) changes - including germ-line point mutations, somatic point mutations, and fragment deletions - has been intensely investigated over the last decade. One of the most controversial associations reported is that of human longevity with a C150T mutation on mtDNA. An early report of mtDNA haplogroup J enrichment in elderly people focused on male centenarians of northern Italy (De Benedictis et al., 1999). Subsequently, the C150T mutation defining haplogroup J2 was revealed to be the true factor associated with longevity (Niemi et al., 2003). At the same time, an analysis of nascent heavy mtDNA strands revealed a new origin of replication at position 149, substituting for that at position 151, only in cell samples carrying the C150T mutation (Zhang et al., 2003). Indeed, a number of studies with positive or negative results have been published in this area based on different populations.