Evaluation of the relationship between genetic variation of single nucleotide RNA MBL2 and risk of salivary gland tumor in Southwest Iran

Abstract

Abstract Background Salivary gland tumors (SGTs) are rare and diagnostically challenging. Genetic factors likely influence SGT susceptibility. Mannose-binding lectin (MBL) plays a key role in inflammation and immunity. Variants in the MBL2 gene can reduce MBL levels and have been linked to cancer risk. Long noncoding RNAs (lncRNAs) regulate gene expression and are dysregulated in tumors. This study explored associations between MBL2 polymorphisms and SGTs. Methods Ninety-nine SGT patients and fifty-nine healthy controls were recruited in Shiraz, Iran. DNA was extracted and genotyped using PCR and sequencing. MBL2 rs11003125 was analyzed using logistic regression under genetic models. LncRNA expression was evaluated in tumors. Results The GC genotype of rs11003125 was significantly associated with reduced SGT risk compared to GG under codominant (OR 0.30, p = 0.0008) and dominant (OR 0.33, p = 0.001) models. The C allele was associated with lower risk under overdominance (OR 0.49, p = 0.01). MBL2 expression was upregulated in tumors versus controls. No correlations existed between MBL2 variants and tumor features. Conclusions This first study of MBL2 and SGTs found that the GC genotype and C allele were associated with decreased SGT susceptibility. MBL2 upregulation in tumors warrants further exploration. These preliminary findings suggest that MBL2 polymorphisms may contribute to SGT risk in this population.