Abstract: SA-PO535
Genome-Wide Association Study of Candidate Genes Associated with Hypomagnesemia in the MyCode Population
Session Information
- Acid-Base, Calcium, Potassium, and Magnesium Disorders: Clinical
October 26, 2024 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Fluid, Electrolytes, and Acid-Base Disorders
- 1102 Fluid, Electrolyte, and Acid-Base Disorders: Clinical
Authors
- Chafale, Adwait S., Geisinger Commonwealth School of Medicine, Scranton, Pennsylvania, United States
- Dinsmore, Ian, Geisinger Health, Danville, Pennsylvania, United States
- Mirshahi, Tooraj, Geisinger Health, Danville, Pennsylvania, United States
- Chang, Alexander R., Geisinger Health, Danville, Pennsylvania, United States
Background
Magnesium is the second most common intracellular cation with many critical roles in enzymatic reactions the body. Consequently, hypomagnesemia has been linked to dysfunction of multiple diseases. Our aim in this study was to identify potential genetic causes of hypomagnesemia.
Methods
We conducted a genome-wide association study (GWAS) using data from 68620 participants with outpatient serum magnesium levels in the Geisinger MyCode DiscovEHR study, a health system-based cohort in central and northeast Pennsylvania. Cases of hypomagnesemia were defined as magnesium levels <1.75 mg/dL (n=7704; 11.2%).
Results
Using a genome-wide significance cutoff (p < 5x10^-8), we identified numerous significant loci (Figure). The top loci associated with hypomagnesemia identified included rs11255473 located near the TAF3 gene (p =7.02E-14), rs2070803 located near MUC1/TRIM46 (p = 2.25E-13), rs7133329 located near MIR4491 (p=1.41E-10), rs78116544 located near HERC2P3 (p=1.07E-10), rs11079428 located near BCAS3 (p=1.26E-9), rs11079428 located near TBX2-AS1 (p=1.26E-9), rs1210864775 located near 5_8S-rRNA (p=3.78E-09), and rs2844882 on chromosome 14 (p=2.81E-09).
Conclusion
Our hypomagnesemia GWAS confirms an association between TAF3 and hypomagnesemia, and identifies several other novel loci associated with magnesium.
Figure. Manhattan Plot of Hypomagnesemia GWAS Results. Blue line p = 1x10^-5; red line p = 5x10^-8.
Funding
- NIDDK Support