TP53 polymorphism may contribute to genetic susceptibility to develop Hashimoto's thyroiditis.
OBJECTIVE
p53, which is encoded by the tumor suppressor gene TP53, plays a crucial role in the regulation of mechanisms of cell cycle arrest and apoptosis. Some SNPs of TP53, involving a different apoptotic ability of p53, have been associated with increased susceptibility to develop autoimmune diseases as well as cancer. We investigated the genotypic distribution of TP53 exon 4 SNPs in a cohort of Caucasian patients affected by Hashimoto's thyroiditis (HT).


METHODS
Peripheral blood for DNA extraction was collected from 109 Caucasian unrelated subjects, 79 HT patients and 30 healthy controls. SNPs analysis was carried out by amplification and sequencing of exon 4 TP53.


RESULTS
For the Pro72Arg (rs 1042522) SNP we found these rates in HT patients: 11.4% wild-type C/C (Pro72Pro), 24.0% heterozygous G/C (Pro72Arg), 64.6% homozygous G/G (Arg72Arg). The corresponding rates in healthy controls were 10, 46.7 and 43.3%, respectively. Thus, significantly different were G/C heterozygosity (24.0 vs 46.7 %, p = 0.039) and G/G homozygosity (64.6 vs 43.3%, p = 0.042). These differences were also confirmed when comparing our study population to published Caucasian control groups. The other described SNPs (Pro34Pro rs 11575998, Pro36Pro rs1800370, Pro47Ser rs1800371, and Arg110Leu rs 11540654) were absent or very rare in our study population.


CONCLUSIONS
Our preliminary data, the first on a Caucasian population, indicate an increased prevalence of the homozygous genotype Arg/Arg and a decreased prevalence of heterozygous genotype Arg/Pro of rs 1042522 in HT patients compared to controls, suggesting that such SNP may contribute to confer susceptibility to HT.
Department of Clinical and Experimental Medicine, Endocrine Unit, University of Messina, Padiglione H, 4 Piano, AOU Policlinico Universitario "G. Martino", via Consolare Valeria, 1, 98125, Messina, Italy. rmruggeri@unime.it.
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Ruggeri
Department of Clinical and Experimental Medicine, Endocrine Unit, University of Messina, Padiglione H, 4 Piano, AOU Policlinico Universitario "G. Martino", via Consolare Valeria, 1, 98125, Messina, Italy.
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Vicchio
Department of Clinical and Experimental Medicine, Endocrine Unit, University of Messina, Padiglione H, 4 Piano, AOU Policlinico Universitario "G. Martino", via Consolare Valeria, 1, 98125, Messina, Italy.
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Giovinazzo
Department of Clinical and Experimental Medicine, Endocrine Unit, University of Messina, Padiglione H, 4 Piano, AOU Policlinico Universitario "G. Martino", via Consolare Valeria, 1, 98125, Messina, Italy.
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Certo
Department of Statistical Sciences (SEFISAST), University of Messina, Messina, Italy.
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Alibrandi
Department of Clinical and Experimental Medicine, Endocrine Unit, University of Messina, Padiglione H, 4 Piano, AOU Policlinico Universitario "G. Martino", via Consolare Valeria, 1, 98125, Messina, Italy.
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Trimarchi
Department of Clinical and Experimental Medicine, Endocrine Unit, University of Messina, Padiglione H, 4 Piano, AOU Policlinico Universitario "G. Martino", via Consolare Valeria, 1, 98125, Messina, Italy.
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Benvenga
Department of Clinical and Experimental Medicine, Endocrine Unit, University of Messina, Padiglione H, 4 Piano, AOU Policlinico Universitario "G. Martino", via Consolare Valeria, 1, 98125, Messina, Italy.|Department of Human Pathology, University of Messina, Messina, Italy.
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Trovato
D000328:Adult; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D050031:Hashimoto Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D044465:White People / Q000235:genetics
C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53
Hashimoto’s thyroiditis; Single nucleotide polymorphism (SNP); p53; p53 mutations