Evaluation of Single Nucleotide Polymorphism Responsible for the Determination of Earwax Type in Koreans / 체질인류학회지

ABSTRACT

The ABCC11 gene is a member of the ATP-binding cassette gene family. A single nucleotide polymorphism (SNP) in the ABCC11 gene is associated with the determination of human earwax type. The purpose of this research is to evaluate the allelic frequencies of this gene in Korean population samples. A total of 619 individuals were analyzed by Dde I restriction fragment length polymorphisms (RFLPs). The genotype frequency of dry earwax in Koreans was very high. The proportions of dry/dry genotype found were 99% (99/100) in normal controls; 98.1% (207/211) in patients with schizophrenia; 99% (99/100) in patients with breast cancer; 96% (48/50) patients with uterine myoma; 98.3% (59/60) in obesity subjects; 100% (43/43) in patients with stomach cancer, and 98.2% (54/55) in attention deficit hyperactivity disorder (ADHD) patients. The wet/wet genotype was not found. There were no significant differences in the distribution of earwax genotypes between controls and experimental groups. These results suggest that the frequency of dry earwax are very high, and therefore the SNP determining earwax type will not be useful in genetic studies of the process involved in various diseases or pathologic conditions in Korean populations.