ASSOCIATIONS BETWEEN COPY NUMBER VARIATIONS OF α-AMYLASE AND TEETH LOSS IN INDIVIDUALS WITH INTELLECTUAL DISABILITY

Caries is a widespread chronic disease. It is thought that changes in composition of salivary proteins could influence oral health [1]. One of such proteins is α-amylase enzyme, which metabolizes starch and may be related to the development of dental caries [2]. The aim of this study was to evaluate the association between AMY1 copy number variation (CNV) and tooth loss in individuals with intellectual disabilities.

This pilot study included 38 individuals (14 males and 21 females) with mental disability, who underwent oral treatment under general anesthesia at the Zalgiris Clinic, a branch of Vilnius University Hospital Santaros Clinics, Vilnius. The mean age (±SD) of participants was 32±9 for males and 29±7 for females. The missing teeth number was assessed by one trained clinician. Participants were referred to one of three study groups: a group with no missing teeth, a group with 1-2 missing teeth, and a group with ≥3 missing teeth. Molecular analysis was performed from buccal swabs collected during dental examination. The MagMAX Nucleic Acid Isolation Kit and KingFisher Flex automated extraction system were used for DNA purification. AMY1 CNV values were determined using droplet PCR assays with the QuantStudio Absolute Q Digital PCR System (Thermo Fisher Scientific). Statistical analysis was conducted using IBM SPSS 27.0 software, assessing possible trends in the correlation between AMY1 CNV and tooth loss.

The mean AMY1 CNV value was 12 and ranged from 1 to 38 (Fig. 1), while the mean number of missing teeth was 4 and ranged from 0 to 14. A trend toward a negative correlation between AMY1 CNV and tooth loss was observed: the mean AMY1 CNV was 15±9 in individuals with no missing teeth, 11±4 in those with 1–2 missing teeth, and 11±6 in individuals with ≥3 missing teeth. There were no significant associations between AMY1 CNV values and age, and no notable differences were found between males and females.

This pilot study indicates a possible association between lower AMY1 copy numbers and higher tooth loss in individuals with intellectual disabilities. However, further large-scale studies are required to validate these findings.