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PTPN22 1858C>T (R620W) functional polymorphism and human longevity.

Valerio Napolioni¹, Annalia Natali, Patrizia Saccucci

¹Laboratory of Human Genetics, School of Biosciences and Biotechnologies, University of Camerino, Via Gentile III da Varano, 62032, Camerino, Italy.

Molecular Biology Reports

|November 30, 2010

Summary

The PTPN22 gene variant (1858C>T) does not impact longevity. This lymphoid protein tyrosine phosphatase (LYP) polymorphism

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Area of Science:

Immunology
Genetics
Gerontology

Background:

The PTPN22 gene encodes lymphoid protein tyrosine phosphatase (LYP), critical for T lymphocyte regulation.
Age-related decline in T-cell signaling impacts cell-mediated immunity.
The PTPN22 1858C>T polymorphism (R620W) is studied for its role in immune function and aging.

Purpose of the Study:

To investigate if the PTPN22 1858C>T polymorphism influences survival to old age and exceptional longevity.
To determine the association between PTPN22 gene variants and lifespan in a healthy Italian population.

Main Methods:

A population-based association study was conducted on 892 healthy individuals from central Italy (age 8-106 years).
Allele and genotype frequencies of the PTPN22 1858C>T polymorphism were analyzed across different age groups.
Data were compared with previously published studies on Italian control populations (N=1393).

Main Results:

The frequency of PTPN22*T1858 allele carriers did not significantly differ between centenarians/nonagenarians, octogenarians, and younger individuals.
Comparison with larger control cohorts confirmed these findings, indicating no negative selection against the PTPN22*T1858 allele in older age groups.
The PTPN22*T1858 allele appears not to be disadvantageous for reaching advanced ages.

Conclusions:

The PTPN22 1858C>T polymorphism is not associated with reduced lifespan or exceptional longevity.
The PTPN22*T1858 allele may offer protection against infectious diseases, potentially balancing any detrimental effects on the immune system.
Further research is warranted to fully understand the complex interplay between PTPN22 variants, immunity, and aging.