Errigo Alessandra, Dore Maria Pina, Mocci Giammarco, Pes Giovanni Mario
Dipartimento di Medicina, Chirurgia e Farmacia, University of Sassari, Viale San Pietro 43, Sassari, 07100, Italy.
Baylor College of Medicine, One Baylor Plaza Blvd, Houston, TX, 77030, USA.
Sci Rep. 2024 Dec 28;14(1):30773. doi: 10.1038/s41598-024-80497-w.
More than two decades ago, in the central-eastern region of the Mediterranean island of Sardinia, a mountain area was identified where the population displays exceptional longevity, especially among men (the Longevity Blue Zone, LBZ). This community was thoroughly investigated to understand the underlying causes of the phenomenon. The present study analyzed 11 genetic markers previously associated with increased survival in several long-lived populations. APOE (rs429358 and rs7412), APOE promoter (rs449647, rs769446, and rs405509), ACE1 (rs1799752), IL6 ‒174G/C (rs1800795), TNFα ‒308G/A (rs1800629), FOXO3A (rs2802292), KLOTHO (rs9536314) and G6PD (rs5030868) polymorphisms were investigated. PCR-based genotyping was performed following genomic DNA extraction from 150 nonagenarians living in the LBZ and 150 controls from a nearby area. No significant deviation in the frequency of the analyzed markers was detected between the two subgroups except for a weak association with the - 174G > C gene variant in the IL-6 gene (p = 0.040), which codes for a major modulator of the inflammatory response. Overall, the findings of this study do not support a significant association of known genetic variants on survival in the population of the Sardinian LBZ, suggesting that other genetic or epigenetic traits not yet identified might play a role.
二十多年前,在地中海撒丁岛的中东部地区,人们发现了一个山区,该地区的人口显示出超长的寿命,尤其是男性(长寿蓝区,LBZ)。对这个社区进行了全面调查,以了解这一现象的潜在原因。本研究分析了11个先前在几个长寿人群中与生存时间延长相关的基因标记。研究了APOE(rs429358和rs7412)、APOE启动子(rs449647、rs769446和rs405509)、ACE1(rs1799752)、IL6 -174G/C(rs1800795)、TNFα -308G/A(rs1800629)、FOXO3A(rs2802292)、KLOTHO(rs9536314)和G6PD(rs5030868)的多态性。从居住在LBZ的150名九旬老人和附近地区的150名对照者中提取基因组DNA后,进行基于PCR的基因分型。除了与IL-6基因中的-174G>C基因变体存在弱关联(p = 0.040)外,两个亚组之间未检测到分析标记频率的显著差异,IL-6基因编码炎症反应的主要调节因子。总体而言,本研究结果不支持已知基因变体与撒丁岛LBZ人群生存之间存在显著关联,这表明尚未确定的其他遗传或表观遗传特征可能起作用。