Supplementary Material for: Genome-Wide Association Study of Erosive Tooth Wear in a Finnish Cohort

Erosive tooth wear is defined as irreversible loss of dental tissues due to intrinsic or extrinsic acids, exacerbated by mechanical forces. Recent studies have suggested a higher prevalence of erosive tooth wear in males, as well as a genetic contribution to susceptibility to erosive tooth wear. Our aim was to examine erosive tooth wear by performing a genome-wide association study (GWAS) in a sample of the Northern Finland Birth Cohort 1966 (n = 1,962). Erosive tooth wear was assessed clinically using the basic erosive wear examination. A GWAS was performed for the whole sample as well as separately for males and females. We identified one genome-wide significant signal (rs11681214) in the GWAS of the whole sample near the genes PXDN and MYT1L. When the sample was stratified by sex, the strongest genome-wide significant signals were observed in or near the genes FGFR1, C8orf86, CDH4, SCD5, F2R, and ING1. Additionally, multiple suggestive association signals were detected in all GWASs performed. Many of the signals were in or near the genes putatively related to oral environment or tooth development, and some were near the regions considered to be associated with dental caries, such as 2p24, 4q21, and 13q33. Replications of these associations in other samples, as well as experimental studies to determine the biological functions of associated genetic variants, are needed.牙侵蚀症（erosive tooth wear）被定义为由内源性或外源性酸导致的牙组织不可逆丧失，且可因机械作用力而加重。近期研究显示，男性群体中牙侵蚀症的患病率更高，且遗传因素会影响个体对牙侵蚀症的易感性。本研究旨在通过对芬兰北部1966年出生队列（Northern Finland Birth Cohort 1966，n=1962）的样本开展全基因组关联研究（genome-wide association study，GWAS），分析牙侵蚀症的相关遗传特征。牙侵蚀症采用基本侵蚀磨损检查进行临床评估。本研究对全部样本分别开展了整体GWAS分析，以及按性别分层的GWAS分析。在全部样本的GWAS分析中，我们于PXDN与MYT1L基因附近区域检测到1个全基因组显著性关联信号（rs11681214）。按性别分层分析后，在FGFR1、C8orf86、CDH4、SCD5、F2R及ING1基因内部或其附近区域，观测到最强的全基因组显著性关联信号。此外，在所有开展的GWAS分析中均检测到多个提示性关联信号。多数关联信号位于与口腔环境或牙齿发育相关的推定基因内部或其附近，部分信号则位于与龋病相关的染色体区域附近，例如2p24、4q21及13q33。未来仍需在其他队列样本中对上述关联信号进行验证，并开展实验研究以明确关联遗传变异的生物学功能。