Official websites use. Share sensitive information only on official, secure websites. E-mail: saroja txbiomedgenetics. Increased serum uric acid SUA or hyperuricemia, a risk factor for gout, renal and cardiovascular diseases, is caused by either increased production or decreased excretion of uric acid or a mix of both. The solute carrier protein 2 family, member 9 SLC2A9 gene encodes a transporter that mediates urate flux across the renal proximal tubule.
Genome-wide association studies have consistently shown the association of single-nucleotide polymorphisms in this gene with SUA in majority populations. American Indian participants of the Strong Heart Family Study, belonging to multigenerational families, have high prevalence of hyperuricemia.
Seven polymorphisms were selected for genotyping based on their association with SUA levels in other populations. These polymorphisms were also associated with the estimated glomerular filtration rate and serum creatinine but not albumin—creatinine ratio.
In summary, the association of polymorphisms in the uric acid transporter gene with SUA levels extends to a new population of American Indians. Uric acid is the end product of purine metabolism in humans and higher primates. Increased serum uric acid SUA , that is, hyperuricemia is a risk factor for gout and in some cases for nephrolithiasis. As well, it may contribute to cardiometabolic disorders, such as type 2 diabetes, 1 metabolic syndrome, 2 , 3 cardiovascular disease CVD and chronic kidney disease CKD.
Genetic factors also have a key role in SUA variation. Several twin and family-based studies have found SUA levels to be significantly heritable. However, the relevance of these genetic variants to minority populations is largely unknown. Besides genetic factors, environmental factors, particularly diet, disease state and certain medications seem to influence SUA. Epidemiologic and diet studies have shown fluctuations in SUA with increased intake of purine-rich foods, alcohol and fructose intake.
