对对氧磷酶（PON1）基因座的遗传分析显示，百岁老人中192位精氨酸等位基因的频率增加。

Genetic analysis of Paraoxonase (PON1) locus reveals an increased frequency of Arg192 allele in centenarians.

作者信息

Bonafè Massimiliano, Marchegiani Francesca, Cardelli Maurizio, Olivieri Fabiola, Cavallone Luca, Giovagnetti Simona, Pieri Carlo, Marra Maurizio, Antonicelli Roberto, Troiano Leonarda, Gueresi Paola, Passeri Giovanni, Berardelli Maurizio, Paolisso Giuseppe, Barbieri Michelangela, Tesei Silvia, Lisa Rosmarie, De Benedictis Giovanna, Franceschi Claudio

机构信息

Department of Experimental Pathology, Bologna University, Bologna, Italy.

出版信息

Eur J Hum Genet. 2002 May;10(5):292-6. doi: 10.1038/sj.ejhg.5200806.

DOI:10.1038/sj.ejhg.5200806

PMID:12082503

Abstract

Human Paraoxonase (PON1) is a High-Density Lipoprotein (HDL)-associated esterase that hydrolyses lipo-peroxides. PON1 has recently attracted attention as a protective factor against oxidative modification of LDL and may therefore play an important role in the prevention of the atherosclerotic process. Two polymorphisms have been extensively studied: a Leucine (L allele) to Methionine (M allele) substitution at codon 55, and a Glutamine (A allele) to Arginine (B allele) substitution at codon 192. We have examined these two aminoacidic changes in 579 people aged 20 to 65 years old, and 308 centenarians. We found that the percentage of carriers of the B allele at codon 192 (B+ individuals) is higher in centenarians than in controls (0.539 vs 0.447), moreover we found that among the B+ individuals, the phenomenon was due to an increase of people carrying M alleles at codon 55 locus. In conclusion, we propose that genetic variability at PON1 locus affects survival at extreme advanced age.

摘要

人对氧磷酶（PON1）是一种与高密度脂蛋白（HDL）相关的酯酶，可水解脂过氧化物。最近，PON1作为一种抵抗低密度脂蛋白氧化修饰的保护因子受到关注，因此可能在预防动脉粥样硬化过程中发挥重要作用。两种多态性已得到广泛研究：第55位密码子处的亮氨酸（L等位基因）被甲硫氨酸（M等位基因）取代，以及第192位密码子处的谷氨酰胺（A等位基因）被精氨酸（B等位基因）取代。我们检测了579名20至65岁的人和308名百岁老人的这两种氨基酸变化。我们发现，百岁老人中第192位密码子B等位基因携带者（B+个体）的百分比高于对照组（0.539对0.447），此外，我们还发现，在B+个体中，这种现象是由于第55位密码子位点携带M等位基因的人数增加所致。总之，我们认为PON1基因座的遗传变异性会影响极高龄人群的生存。