G. Debenedictis et al., DNA MULTIALLELIC SYSTEMS REVEAL GENE LONGEVITY ASSOCIATIONS NOT DETECTED BY DIALLELIC SYSTEMS - THE APO-B LOCUS/, Human genetics, 99(3), 1997, pp. 312-318
To identify possible genetic factors affecting human longevity we comp
ared allele pools at two candidate loci for longevity between a sample
of 143 centenarians (S) and a control sample of 158 individuals (C).
The candidate loci were APOB and TPO, which code for apolipoprotein B
and thyroid peroxidase, respectively. Both restriction fragment length
(RFL) (XbaI(2488) and EcoRI(4154)) and variable number of tandem repe
at (VNTR) (3'-APOB-VNTR) polymorphisms were analysed at the APOB locus
; the TPO-VNTR polymorphism (intron 10) was analysed at the TPO locus.
The main result of the investigation was that there is an association
between the APOB locus and longevity that is revealed only when multi
allelic polymorphisms are considered. In particular: (i) the frequency
of 3'APOB-VNTR alleles with fewer than 35 repeats is significantly lo
wer in cases than in controls; (ii) the linkage disequilibrium between
the XbaI-RFLP and the EcoRI-RFLP is significantly different from 0 in
cases but not in controls; (iii) the EcoRI-RFLP and XbaI-RFLP allele
frequencies do not discriminate between cases and controls. The differ
ences observed between case and control allele pools are specific to t
he APOB locus, since no significant difference was observed at the TPO
locus.