Genome-wide association study identifies common genetic variants associated with salivary gland carcinoma and its subtypes.
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Genome-wide association study identifies common genetic variants associated with salivary gland carcinoma and its subtypes.
BACKGROUND salivary gland carcinoma (SGCs) is a rare malignancy with unknown etiology. The purpose of this research is to identify genetic variants modifying the risk of SGC and major subtypes: adenoid cystic carcinoma and mucoepidermoid carcinoma.
METHOD The author conducted a genome-wide association study in 309 cases defined SGC and 535 cancer-free controls. A single-nucleotide polymorphism (SNP) discovery -level studies conducted in non-Hispanic white individuals was followed by a replication study on Hispanic individuals. A logistic regression analysis was applied to calculate the odds ratio (OR) and 95% confidence intervals (95% CI). A meta-analysis of the results is done.
RESULTS A genome-wide significant association with SGC in non-Hispanic white individuals detected in the coding SNP in CHRNA2 (cholinergic receptor, nicotinic, alpha 2 [neuronal]) (OR, 8.55; 95% CI, 4.53 to 16.13 [ P = 3.6 × 10 (-11)]), OR4F15 (olfactory receptor, family 4, subfamily M, member 15) (OR, 5.26; 95% CI, 3.13 to 8.83 [P = 3 , 5 × 10 (-10)]), ZNF343 (zinc finger protein 343) (OR, 3.28; 95% CI, 2.12 to 5.07 [P = 9.1 × 10 (-8)]), and PARP4 (poly (ADP-ribose) polymerase family, member 4) (OR, 2:00; 95% CI, 1.54 to 2.59 [P = 1.7 × 10 (-7)]).
Meta-analysis of a cohort of non-Hispanic white and Hispanic identified another significant genome-wide SNP in ELL2 (meta-OR, 1.86; 95% CI, 1.48 to 2.34 [P = 1.3 × 10 (-7 )]). most of the risk allele enriched in mucoepidermoid carcinoma, in which the SNP in CHRNA2, OR4F15, and ZNF343 had an OR of 15.71 (95% CI, 6.59 to 37.47 [P = 5.2 × 10 (-10)]), 15.60 (95% CI, 6.50 to 37.41 [P = 7.5 × 10 (-10)]), and 6.49 (95% CI, 3.36 to 12.52 [P = 2.5 × 10 (-8)]), respectively. None of these SNPs maintained a significant relationship with adenoid cystic carcinoma.
CONCLUSION To the best of the authors’ knowledge, this is the first study to identify SNPs associated with the risk panel SGC. Confirmation of these findings along with the functional analysis of SNPs identified necessary.
Genome-wide association study identifies common genetic variants associated with salivary gland carcinoma and its subtypes.
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