Sini, Maria Elena (2011) Polimorfismi genetici dell'interleuchina 1 e dell'interleuchina 6 nella popolazione sarda con particolare riferimento alle fasce di età avanzata. Doctoral Thesis.
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A unique approach to the science of longevity is the natural model of centenarians. Studies of this kind are particularly interesting because they offer people the opportunity to know the critical factors that lead to aging successfully. It is indeed a population that is homogeneous for longevity, this term a long life regardless of its quality. The design and subsequent implementation of a genetic study is not without obstacles and barriers, both from an organizational perspective (research of centenarians and their validation by official records) and because we live in a multiethnic society.
The data reported in the literature indicate that human longevity could be related to the optimal functioning of the immune system. So one of the genetic determinants of longevity might reside in those polymorphisms that regulate immune response. Centenarians are exceptional individuals, who through a mechanism not yet clarified, have developed a level of biological homeostasis that is compatible with
the maintenance of life for an exceptional period of time.
The project AKeA studied for over ten years, the phenomenon of longevity in Sardinia, a region in which there are constantly 22 centenarians per 100,000 inhabitants.
The AKeA project is based on the methodology of certification: one study only individuals in possession of official documents and people in life who sign the
informed consent and accept the researchers 'home visit' s University of Sassari.
The work done in recent years has focused on the study of some cluster polymorphisms of interleukin 1 and interleukin 6.
The study of interleukin 1 genes in the cluster, which expresses three different proteins, two agonists, interleukin-1 alpha and interleukin 1 beta and an
antagonist, interleukin-1 Ra Materials and methods
1038 were examined DNA samples from Sardinian residents aged 60 years, and centenarians centenaries AKeA part of the project.
The DNA was extracted, after drawing blood from white blood cells with the standard method of phenol-chloroform
We studied three polymorphisms in the promoter of the gene for interleukin-6, -174 G / C, -597 G / A and -574 G / C.
We studied two olymorphisms in the promoter of the gene for interleukin-1, -511 C / C and -889 C / T
Furthermore, we studied interleukin-1 RA polymorphism that is linked to the presence of different alleles that differ in sequence repea t (VNTR) of 86 bp present in intron 2.
1038 samples were tested for DNA testing of which 849 were valid. The genotype distribution and allele frequency was estimated by dividing the individuals in the following age groups: centenarians, nova ntacinquenni, nonagenarians, octogenarians and sixties. In addition, a comparison was made between the sexes.
The distribution of genotypes of polymorphisms -174 G / C and -597 G / A for interleukin 6 follows the distribution expected under the Hardy-Weinberg equilibrium and there were no significant differences between the boomers and
The results for interleukin 1 did not show a meaningful if not for the distribution of genotypes among women nonagenarians, who do not follow the Hardy-Weinberg
equilibrium. This figure is still the subject of extensive studies for his confirmation through the analysis of a larger sample.
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