Replication of the effect of SLC2A9 genetic variation on serum uric acid levels in American Indians

Voruganti, V. Saroja; Franceschini, Nora; Haack, Karin; Laston, Sandra; MacCluer, Jean W.; Umans, Jason G.; Comuzzie, Anthony G.; North, Kari E.; Cole, Shelley A.

doi:10.1038/ejhg.2013.264

Cited by 24 publications

(28 citation statements)

References 48 publications

(72 reference statements)

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“…Significant differences have been observed in the levels of SUA concentrations in men and women. Several studies have reported higher levels of SUA in men as compared to women [26,27,28,29,30,31,32,33], which is similar to our results. Similarly, sex-specific differences have also been reported with respect to association of SUA with CVD risk factors.…”

Section: Discussionsupporting

confidence: 92%

Blueberry Consumption Affects Serum Uric Acid Concentrations in Older Adults in a Sex-Specific Manner

et al. 2016

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Blueberries are rich in antioxidants and may protect against disease. Uric acid accounts for about 50% of the antioxidant properties in humans. Elevated levels of serum uric acid (SUA) or hyperuricemia is a risk factor for cardiovascular disease (CVD). The aim was to determine the effect of blueberries on SUA in older adults. Participants (n = 133, 65–80 years) experiencing mild cognitive impairment (MCI) were randomized in a double-blind 6-month clinical trial to either blueberry or placebo. A reference group with no MCI received no treatment. The mean (SD) SUA at baseline were 5.45 (0.9), 6.4 (1.3) and 5.8 (1.4) mg/dL in reference, placebo, and treatment groups, respectively. Baseline SUA was different in men and women (6.25 (1.1) vs. 5.35 (1.1), p = 0.001). During the first three months, SUA decreased in the blueberry group and was significantly different from the placebo group in both men and women (p < 0.0003). Sex-specific differences became apparent after 3 months, when only men showed an increase in SUA in the blueberry group and not in the placebo (p = 0.0006) between 3 and 6 months. At 6 months SUA had rebounded in both men and women and returned to baseline levels. Baseline SUA was correlated with CVD risk factors, waist circumference and triglycerides (p < 0.05), but differed by sex. Overall, 6 m SUA changes were negatively associated with triglycerides in men, but not in women. Group-wise association between 6 m SUA changes and CVD risk factors showed associations with diastolic blood pressure, triglycerides and high-density lipoprotein (HDL) cholesterol in women of the Blueberry group but not in men or any sex in the placebo group. In summary, blueberries may affect SUA and its relationship with CVD risk in a sex-specific manner.

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Section: Discussionsupporting

confidence: 92%

Blueberry Consumption Affects Serum Uric Acid Concentrations in Older Adults in a Sex-Specific Manner

et al. 2016

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“…A larger difference in the mean SUA levels between SLC22A12rs893006 genotypes was detected in males compared with females. Previous studies investigating the American Indian, Japanese and Korean populations have identified variants of SLC2A9 to be principal determinants of SUA levels (22,25,26). In particular, a meta-analysis of European populations demonstrated that the SLC2A9rs734553 polymorphism may be an independent genetic marker associated with SUA levels (7).…”

Section: Discussionmentioning

confidence: 99%

Prevalence of hyperuricemia among the Chinese population of the southeast coastal region and association with single nucleotide polymorphisms in urate‑anion exchanger genes: SLC22A12, ABCG2 and SLC2A9

et al. 2018

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Genome‑wide association studies identified that a series of genes, including solute carrier family (SLC) 2 member 9 (SLC2A9), SLC 22 member 12 (SLC22A12) and ATP‑binding cassette sub‑family G member 2 (ABCG2) polymorphisms were associated with serum uric acid (SUA) levels in the present study. High incidence rates of hyperuricemia were reported in the Chinese population of the southeast coastal region; however, no evidence has confirmed the genetic association with SUA levels in this region. The present study aimed to investigate the association between uric acid levels and hyperuricemia, and genotypes of the Chinese population of the southeast coastal region. In the present study, a total of 1,056 healthy patients attending routine checkups were employed to investigate the incidence of hyperuricemia; 300 subjects were then randomly selected from the 1,056 patients for the identification of genetic polymorphisms of SLC2A9rs11722228, SLC22A12rs893006 and ABCG2rs2231142 via high‑resolution melting. The present study reported that the incidence rate of hyperuricemia was 32.6% (42.5% in males and 22.7% in females, respectively). The prevalence of ABCG2rs2231142 polymorphisms (CC, CA and AA) was 44.4, 44.8 and 11.8%, respectively; SLC2A9rs11722228 polymorphisms (CC, CT and TT) were reported to be 49.3, 40.3 and 10.3%, respectively. Additionally, SLC22A12rs893006 polymorphisms (CC, CT and TT) were determined to be 57.2, 38.7 and 4.1%, respectively. The SUA levels were observed to be statistically different among each investigated genotype of ABCG2rs2231142 (P=0.047). The A allele was significantly associated with an increased risk of hyperuricemia (odds ratio=2.405 and 1.133 for CA and AA, respectively). The present study reported that high incidence rates of hyperuricemia in the Chinese population of the southeast coastal region may be closely associated with the variants of ABCG2rs2231142. Whether polymorphisms of SLC2A9rs11722228 and SLC22A12rs893006 are involved in hyperuricemia require further investigation.

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“…It has to be investigated as a functional unit comprising of all uric acid transporters and other molecules. This is because the renal handling of urate transport involves several genes (e.g., solute carrier family 2, member 9 ( SLC2A9 ) and ATP-binding cassette ABC, subfamily G, member 2 ( ABCG2 ), solute carrier family 16, member 9 ( SLC16A9 ), solute carrier family 17, members 1, 3 and 4 ( SLC17A1 , SLC17A3 and SLC17A4 ), and, solute carrier family 22, members 11 and 12 ( SLC22A11 and SLC22A12 ), most of which have been implicated in the regulation of urate levels [26–29]. …”

Section: Discussionmentioning

confidence: 99%

Genetic variation underlying renal uric acid excretion in Hispanic children: the Viva La Familia Study

et al. 2017

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BackgroundReduced renal excretion of uric acid plays a significant role in the development of hyperuricemia and gout in adults. Hyperuricemia has been associated with chronic kidney disease and cardiovascular disease in children and adults. There are limited genome-wide association studies associating genetic polymorphisms with renal urate excretion measures. Therefore, we investigated the genetic factors that influence the excretion of uric acid and related indices in 768 Hispanic children of the Viva La Familia Study.MethodsWe performed a genome-wide association analysis for 24-h urinary excretion measures such as urinary uric acid/urinary creatinine ratio, uric acid clearance, fractional excretion of uric acid, and glomerular load of uric acid in SOLAR, while accounting for non-independence among family members.ResultsAll renal urate excretion measures were significantly heritable (p <2 × 10−6) and ranged from 0.41 to 0.74. Empirical threshold for genome-wide significance was set at p <1 × 10−7. We observed a strong association (p < 8 × 10−8) of uric acid clearance with a single nucleotide polymorphism (SNP) in zinc finger protein 446 (ZNF446) (rs2033711 (A/G), MAF: 0.30). The minor allele (G) was associated with increased uric acid clearance. Also, we found suggestive associations of uric acid clearance with SNPs in ZNF324, ZNF584, and ZNF132 (in a 72 kb region of 19q13; p <1 × 10−6, MAFs: 0.28–0.31).ConclusionFor the first time, we showed the importance of 19q13 region in the regulation of renal urate excretion in Hispanic children. Our findings indicate differences in inherent genetic architecture and shared environmental risk factors between our cohort and other pediatric and adult populations.Electronic supplementary materialThe online version of this article (doi:10.1186/s12881-016-0366-3) contains supplementary material, which is available to authorized users.

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Replication of the effect of SLC2A9 genetic variation on serum uric acid levels in American Indians

Cited by 24 publications

References 48 publications

Blueberry Consumption Affects Serum Uric Acid Concentrations in Older Adults in a Sex-Specific Manner

Blueberry Consumption Affects Serum Uric Acid Concentrations in Older Adults in a Sex-Specific Manner

Prevalence of hyperuricemia among the Chinese population of the southeast coastal region and association with single nucleotide polymorphisms in urate‑anion exchanger genes: SLC22A12, ABCG2 and SLC2A9

Genetic variation underlying renal uric acid excretion in Hispanic children: the Viva La Familia Study

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