Search Results - "Major, Tanya J."
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Evaluation of the diet wide contribution to serum urate levels: meta-analysis of population based cohorts
Published in BMJ (Online) (10-10-2018)“…AbstractObjectiveTo systematically test dietary components for association with serum urate levels and to evaluate the relative contributions of estimates of…”
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Pleiotropic effect of the ABCG2 gene in gout: involvement in serum urate levels and progression from hyperuricemia to gout
Published in Arthritis research & therapy (12-03-2020)“…The ABCG2 Q141K (rs2231142) and rs10011796 variants associate with hyperuricaemia (HU). The effect size of ABCG2 rs2231142 on urate is ~ 60% that of SLC2A9,…”
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The comparative effect of exposure to various risk factors on the risk of hyperuricaemia: diet has a weak causal effect
Published in Arthritis research & therapy (04-03-2021)“…Prevention of hyperuricaemia (HU) is critical to the prevention of gout. Understanding causal relationships and relative contributions of various risk factors…”
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The relationship between ferritin and urate levels and risk of gout
Published in Arthritis research & therapy (15-08-2018)“…Ferritin positively associates with serum urate and an interventional study suggests that iron has a role in triggering gout flares. The objective of this…”
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Mediation analysis to understand genetic relationships between habitual coffee intake and gout
Published in Arthritis research & therapy (05-07-2018)“…Increased coffee intake is associated with reduced serum urate concentrations and lower risk of gout. Specific alleles of the GCKR, ABCG2, MLXIPL, and CYP1A2…”
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Association of rs9939609 in FTO with BMI among Polynesian peoples living in Aotearoa New Zealand and other Pacific nations
Published in Journal of human genetics (01-07-2023)“…The fat mass and obesity associated (FTO) locus consistently associates with higher body mass index (BMI) across diverse ancestral groups. However, previous…”
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Mid-pass whole genome sequencing enables biomedical genetic studies of diverse populations
Published in BMC genomics (01-11-2021)“…Historically, geneticists have relied on genotyping arrays and imputation to study human genetic variation. However, an underrepresentation of diverse…”
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Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects
Published in Journal of human genetics (01-02-2021)“…Gout is a complex inflammatory arthritis affecting ~20% of people with an elevated serum urate level (hyperuricemia). Gout and hyperuricemia are essentially…”
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A Polynesian-specific missense CETP variant alters the lipid profile
Published in HGG advances (13-07-2023)“…Identifying population-specific genetic variants associated with disease and disease-predisposing traits is important to provide insights into the genetic…”
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CREBRF missense variant rs373863828 has both direct and indirect effects on type 2 diabetes and fasting glucose in Polynesian peoples living in Samoa and Aotearoa New Zealand
Published in BMJ open diabetes research & care (01-02-2022)“…IntroductionThe minor allele of a missense variant, rs373863828, in CREBRF is associated with higher body mass index (BMI), lower fasting glucose, and lower…”
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An update on the genetics of hyperuricaemia and gout
Published in Nature reviews. Rheumatology (01-06-2018)“…A central aspect of the pathogenesis of gout is elevated urate concentrations, which lead to the formation of monosodium urate crystals. The clinical features…”
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Genomic dissection of 43 serum urate-associated loci provides multiple insights into molecular mechanisms of urate control
Published in Human molecular genetics (15-04-2020)“…Abstract High serum urate is a prerequisite for gout and associated with metabolic disease. Genome-wide association studies (GWAS) have reported dozens of loci…”
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The epigenome: key to understanding and predicting gout flares
Published in Pathology (01-12-2021)“…Gout is a form of arthritis, resulting from an inflammatory reaction to the deposition of monosodium urate (MSU) crystals in the synovial fluid of the joint…”
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A Polynesian-specific copy number variant encompassing the MICA gene associates with gout
Published in Human molecular genetics (28-10-2022)“…Abstract Gout is of particularly high prevalence in the Māori and Pacific (Polynesian) populations of Aotearoa New Zealand (NZ). Here, we investigated the…”
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Subtype-specific gout susceptibility loci and enrichment of selection pressure on ABCG2 and ALDH2 identified by subtype genome-wide meta-analyses of clinically defined gout patients
Published in Annals of the rheumatic diseases (01-05-2020)“…Genome-wide meta-analyses of clinically defined gout were performed to identify subtype-specific susceptibility loci. Evaluation using selection pressure…”
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Aotearoa New Zealand Māori and Pacific Population-amplified Gout Risk Variants: CLNK Is a Separate Risk Gene at the SLC2A9 Locus
Published in Journal of rheumatology (01-11-2021)“…Objective The Māori and Pacific (Polynesian) population of Aotearoa New Zealand has a high prevalence of gout. Our aim was to identify potentially functional…”
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Discordant association of the CREBRF rs373863828 A allele with increased BMI and protection from type 2 diabetes in Māori and Pacific (Polynesian) people living in Aotearoa/New Zealand
Published in Diabetologia (01-07-2018)“…Aims/hypothesis The A (minor) allele of CREBRF rs373863828 has been associated with increased BMI and reduced risk of type 2 diabetes in the Samoan populations…”
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Multivariate analysis of a missense variant in CREBRF reveals associations with measures of adiposity in people of Polynesian ancestries
Published in Genetic epidemiology (01-02-2023)“…The minor allele of rs373863828, a missense variant in CREB3 Regulatory Factor, is associated with several cardiometabolic phenotypes in Polynesian peoples. To…”
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Dietary Sodium Modifies Serum Uric Acid Concentrations in Humans
Published in American journal of hypertension (06-11-2017)“…Subjects with hypertension are frequently obese or insulin resistant, both conditions in which hyperuricemia is common. Obese and insulin-resistant subjects…”
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