Related Experiment Video
Updated: Jul 6, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Statistical analysis of the associations between polymorphisms within aldehyde dehydrogenase 2 (ALDH2), and
Junichiro Nose1, Akira Saito1, Naoyuki Kamatani2
1Division of Genomic Medicine, Department of Advanced Biomedical Engineering and Science and Institute of Rheumatology, Tokyo Women's Medical University, 10-22 Kawada-cho, Shinjuku-ku, Tokyo, 162-0054, Japan.
Abstract:
A scan of 4,190 single-nucleotide polymorphisms (SNPs) in 199 different genes using 38 different quantitative traits to search for associations between genotypes and phenotypes detected an association between the genotypes at rs671 of ALDH2 and gamma-glutamyltranspeptidase (gamma-GTP) levels. We examined the associations between five factors such as gender, age, rs671 genotype, alcohol-drinking habit, and serum gamma-GTP level and found that all pairs were associated except for the pair of rs671 genotype and gender and rs671 genotype and age. We further analyzed the data by both multiple regression and subgroup analyses and found that the associations between rs671 genotype and alcohol-drinking habit, alcohol-drinking habit and gamma-GTP level, gender and gamma-GTP, and age and gamma-GTP were independent of other factors. Conversely, the association between rs671 genotype and gamma-GTP level was dependent on alcohol-drinking habit. Associations between genetic and environmental factors will become a focus of medical and biological studies. Our study has shown that (1) a large sample size combined with a replication study is necessary to overcome the multiple-comparison problem, and (2) subgroup analysis along with logistic and linear multiple regression analysis may be useful to dissect a complicated relationship.
Related Concept Videos
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Single Nucleotide Polymorphisms-SNPs
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Principles of Pharmacogenetics: Types of Genetic Variants
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
