Abstract: SA-PO790
Genome Wide Association Study Identifies Novel SNPs Associated with Albuminuria in Japanese General Population
Session Information
- CKD: Epidemiology, Risk Factors, Prevention - III
October 27, 2018 | Location: Exhibit Hall, San Diego Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: CKD (Non-Dialysis)
- 1901 CKD (Non-Dialysis): Epidemiology, Risk Factors, and Prevention
Author
- Okuda, Hiroshi, Tohoku University, Sendai, Japan
Background
Urinary albumin excretion (UAE) is a good biomarker for chronic kidney disease, cardiovascular disease, diabetes mellitus or obesity. We usually expect the individual amounts of UAE show large variations among similar conditioned patients. The variations could be contributed with many genetic factors. However, a few Genome-wide association analysis studies (GWAS) of UAE based in European population were reported and there was not in Japanese general population. Here we conducted GWAS using health-survey data collected by Tohoku Medical Megabank Organization (ToMMo) and listed up several candidates of single nucleotide polymorphisms (SNPs) on UAE.
Methods
GWAS of continuous variables of UAE as an outcome was performed using about 1 million SNPs genotypes (Illmina HumanOmniExpressExome) from 9966 participants (Miyagi; 4974, Iwate; 4992) collected by ToMMo in 2013. As quality control, SNPs with low call rates (<0.98), low Hardy–Weinberg equilibrium exact test P-values (<1×10−4) or low minor allele frequencies (MAF; <0.01) were filtered out. As a covariate, age, sex, BMI, blood pressure, renal function (eGFR calculated by plasma cystatin C), HbA1c was used. Genotypic imputation was performed using a haplotype panel consisting of 2000 samples NGS data, further analysis was performed on the data, and each MAF and INFO value after imputing were adjusted.
Results
Analysis results were examined with p <5 × 10 - 8 as the significance level, and 18 candidates of novel SNPs related to UAE were identified. SNPs with particularly strong associations were observed on chromosome 14.
Conclusion
The 18 SNPs were identified associated with UAE and we are considering the mechanisms and the further verification necessarily.