College of Public Health Studies Genetic Variants of Hypertension, Diabetes, and AD

Dr. Shaoqing Gong, 2017 alumnus of the doctoral program in Epidemiology in the East Tennessee State University College of Public Health, has authored an article in the American Journal of Hypertension. Dr. Kesheng Wang, Associate Professor and Dr. Ying Liu, Assistant Professor in the Department of Biostatistics and Epidemiology, Dr. Yongke Lu, Assistant Professor in the Department of Health Sciences, served as co-authors. The article, “Polymorphisms within RYR3 gene are Associated with Risk and Age at Onset of Hypertension, Diabetes and Alzheimer's Disease” discusses genetic variants associated with the risk and age at onset of hypertension, diabetes and Alzheimer's disease by using family-based data.

Worldwide, hypertension, type 2 diabetes and Alzheimer’s disease are common and increasing public health concerns. In recent decades, it has been widely described that hypertension and diabetes, as vascular risk factors, increase the risk of cognitive impairment and dementia. Hypertension affects 33% of Americans presently. In 2015, among people above 18 years, diabetes was estimated to affect 9.4% of the US population. However, among people above 65 years, the percentage increases to 25%. Studies have shown that 10% of people aged above 65 years suffer from Alzheimer’s disease.

The RYR3 gene has been shown to mediate the mobilization of stored calcium ions in cardiac and skeletal muscle to initiate muscle contraction, which suggests a potential role in hypertension and Alzheimer’s disease. The current study examined whether polymorphisms within RYR3 gene are associated with risk and age at onset of hypertension, Alzheimer’s disease, and diabetes. A family-based sample was available from the National Institute on Aging - Late Onset Alzheimer's Disease (NIA-LOAD) family study, with 279 single-nucleotide polymorphisms (SNPs) within the RYR3 gene.

In the current study the authors identified unique and shared genetic variants of the RYR3 in association with hypertension, Alzheimer’s disease and diabetes. In addition, the results obtained from haplotype analyses and disease risk SNP function predictions also support the role of the RYR3 gene variants in these three complex and multifactorial diseases.

The findings provide genetic evidence, for the first time, of unique and shared disease-associated RYR3 gene polymorphisms among these three complex traits. This suggests a potential etiologic relationship between these diseases, as well as with calcium disturbances and certain calcium signaling pathways which may be involved in pathophysiology of these three diseases. The discovery of novel genetic risk factors for these three diseases may lead to early diagnosis and new therapeutic interventions.

The American Journal of Hypertension is a monthly, peer-reviewed journal that provides a forum for scientific inquiry of the highest standards in the field of hypertension and related cardiovascular disease. The journal publishes high-quality original research and review articles on basic sciences, molecular biology, clinical and experimental hypertension, cardiology, epidemiology, pediatric hypertension, endocrinology, neurophysiology, and nephrology.