Background: It has been suggested that pituitary adenoma results from accumulation of multiple genetic and/or epigenetic aberrations, which may be identified through association studies. As pituitary tumor transforming gene-1 (PTTG1)/securin plays a critical role in promoting genomic instability in pituitary neoplasia, the present study explored the association of PTTG1 haplotypes with the risk of pituitary adenoma.
Methods: We genotyped five PTTG1 haplotype-tagging SNPs (htSNP) by PCR-RFLP assays in a case-control study, which included 280 Han Chinese patients diagnosed with pituitary adenoma and 280 age-, gender- and geographically matched Han Chinese controls. Haplotypes were reconstructed according to the genotyping data and linkage disequilibrium status of the htSNPs.
Results: No significant differences in allele and genotype frequencies of the htSNPs were observed between pituitary adenoma patients and controls, indicating that none of the individual PTTG1 SNPs examined in this study is associated with the risk of pituitary adenoma. In addition, no significant association was detected between the reconstructed PTTG1 haplotypes and pituitary adenoma cases or the controls.
Conclusions: Though no significant association was found between PTTG1 haplotypes and the risk of pituitary adenoma, this is the first report on the association of individual PTTG1 SNPs or PTTG1 haplotypes with the risk of pituitary adenoma based on a solid study; it will provide an important reference for future studies on the association between genetic alterations in PTTG1 and the risk of pituitary adenoma or other tumors.