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Lysosome-associated protein transmembrane 4-β (LAPTM4B) contains a polymorphic region that contributes to the increased risk of numerous types of tumor. However, no study has yet demonstrated an association between the expression of the LAPTM4B gene and tumor differentiation, and the reason that LAPTM4B polymorphisms affect the susceptibility of individuals to cancer remains to be elucidated. The present study assessed the possible association between LAPTM4B polymorphism and the risk of papillary thyroid carcinoma (PTC), and attempted to identify the underlying mechanism for variation in patient susceptibility with respect to transcription regulation in the polymorphism region. The case control study included 183 papillary thyroid carcinoma patients (132 females, 51 males) and 697 healthy controls (249 females, 448 males). Genomic DNA was extracted from the blood and the genotype of LAPTM4B was identified using polymerase chain reaction (PCR). The results of the PCR revealed that LAPTM4B allele *2 was associated with PTC risk in comparison with LAPTM4B allele *1 [odds ratio (OR), 1.968; 95% confidence interval (CI), 1.363-2.841, P&lt;0.001] in females, while LAPTM4B*2 was not associated with PTC risk in males (OR, 0.996, 95% CI, 0.615-1.612, P=0.986). Notably, LAPTM4B polymorphism was not associated with clinical parameters in the female patient group. In addition, by performing a luciferase reporter assay in the PTC TPC1 and B-CPAP cell lines, the transcriptional activity of the +10/+311 plasmid, representing LAPTM4B*2 was reduced compared with that of the +10/+292 plasmid representing LAPTM4B*1. In conclusion, the results of the present study suggested that LAPTM4B*2 was a susceptibility factor for PTC in the female Chinese population and this may not be caused by the transcriptional regulation of LAPTM4B polymorphism region in TPC1 and B-CPAP cell lines.

LAPTM4B*2 allele is associated with the development of papillary thyroid carcinoma in Chinese women