Genetic variants of SLC17A1 are associated with cholesterol homeostasis and hyperhomocysteinaemia in Japanese men

Koyama, Teruhide; Matsui, Daisuke; Kuriyama, Nagato; Ozaki, Etsuko; Tanaka, Keitaro; Oze, Isao; Hamajima, Nobuyuki; Wakai, Kenji; Okada, Rieko; Arisawa, Kokichi; Mikami, Haruo; Shimatani, Keiichi; Hirata, Akie; Takashima, Naoyuki; Suzuki, Sadao; Nagata, Chisato; Kubo, Michiaki; Tanaka, Hideo

doi:10.1038/srep15888

Cited by 6 publications

(5 citation statements)

References 41 publications

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“…Taking into account genes containing at least suggestive significant markers, the list of positional candidates in this QTL region further comprises phosphate transporters ( SLC17A1 and SLC17A4 ) and nucleosome-related genes ( HIST1H3E , HIST1H1D , and HMGN4 ). In particular, the genetics of phosphate transporters are worth analyzing, as these play an important role in the Ca and P balance, even though corresponding polymorphisms have so far only been associated with gout and cholesterol homeostasis (Dehghan et al, 2008; Koyama et al, 2015). Other positional candidate genes mapped in the QTL identified for SSC1 and SSC8.…”

Section: Discussionmentioning

confidence: 99%

Genetic Contribution to Variation in Blood Calcium, Phosphorus, and Alkaline Phosphatase Activity in Pigs

et al. 2019

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Blood values of calcium (Ca), inorganic phosphorus (IP), and alkaline phosphatase activity (ALP) are valuable indicators for mineral status and bone mineralization. The mineral homeostasis is maintained by absorption, retention, and excretion processes employing a number of known and unknown sensing and regulating factors with implications on immunity. Due to the high inter-individual variation of Ca and P levels in the blood of pigs and to clarify molecular contributions to this variation, the genetics of hematological traits related to the Ca and P balance were investigated in a German Landrace population, integrating both single-locus and multi-locus genome-wide association study (GWAS) approaches. Genomic heritability estimates suggest a moderate genetic contribution to the variation of hematological Ca ( N = 456), IP ( N = 1049), ALP ( N = 439), and the Ca/P ratio ( N = 455), with values ranging from 0.27 to 0.54. The genome-wide analysis of markers adds a number of genomic regions to the list of quantitative trait loci, some of which overlap with previous results. Despite the gaps in knowledge of genes involved in Ca and P metabolism, genes like THBS2 , SHH , PTPRT , PTGS1 , and FRAS1 with reported connections to bone metabolism were derived from the significantly associated genomic regions. Additionally, genomic regions included TRAFD1 and genes coding for phosphate transporters ( SLC17A1 – SLC17A4 ), which are linked to Ca and P homeostasis. The study calls for improved functional annotation of the proposed candidate genes to derive features involved in maintaining Ca and P balance. This gene information can be exploited to diagnose and predict characteristics of micronutrient utilization, bone development, and a well-functioning musculoskeletal system in pig husbandry and breeding.

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Section: Discussionmentioning

confidence: 99%

Genetic Contribution to Variation in Blood Calcium, Phosphorus, and Alkaline Phosphatase Activity in Pigs

et al. 2019

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“…Instrumental activities of daily living (IADL) and metabolic equivalents (METs) were assessed as previously reported [16, 17]. The scoring guidelines recommend adding an additional point for people with less than 13 years of education [18].…”

Section: Methodsmentioning

confidence: 99%

Serum albumin to globulin ratio is related to cognitive decline via reflection of homeostasis: a nested case-control study

et al. 2016

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BackgroundRecent research suggests that several pathogenetic factors, including aging, genetics, inflammation, dyslipidemia, diabetes, and infectious diseases, influence cognitive decline (CD) risk. However, no definitive candidate causes have been identified. The present study evaluated whether certain serum parameters predict CD.MethodsA total of 151 participants were assessed for CD using the Mini-Mental State Examination (MMSE), and 34 participants were identified as showing CD.ResultsAmong CD predictive risk factors, Helicobacter pylori seropositivity was significantly predictive of CD risk, more so than classical risk factors, including white matter lesions and arterial stiffness [adjusted odds ratio (OR) = 4.786, 95% confidence interval (CI) = 1.710–13.39]. A multivariate analysis indicated that the albumin to globulin (A/G) ratio was the only factor that significantly lowered CD risk (OR = 0.092, 95% CI = 0.010–0.887). A/G ratio also was positively correlated with MMSE scores and negatively correlated with disruption of homeostatic factors (i.e., non-high-density lipoprotein, hemoglobin A1c, and high-sensitive C-reactive protein).ConclusionsThe current study results suggest that the A/G ratio is related to cognitive decline and may reflect homeostatic alterations.

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“…UA secretion in the renal proximal tubule [77,78] • Major alleles for rs1165196, rs1179086, and rs3757131 associated with higher UA levels in both sexes, where Japanese men also demonstrate high homocysteine and low folic acid levels, while women do not [117] [ 82,93,94,96,97,99,101,108] SLC22A7 OAT2…”

Section: Npt1mentioning

confidence: 99%

Sex Differences in Urate Handling

Kuhns

Woodward

2020

IJMS

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Hyperuricemia, or elevated serum urate, causes urate kidney stones and gout and also increases the incidence of many other conditions including renal disease, cardiovascular disease, and metabolic syndrome. As we gain mechanistic insight into how urate contributes to human disease, a clear sex difference has emerged in the physiological regulation of urate homeostasis. This review summarizes our current understanding of urate as a disease risk factor and how being of the female sex appears protective. Further, we review the mechanisms of renal handling of urate and the significant contributions from powerful genome-wide association studies of serum urate. We also explore the role of sex in the regulation of specific renal urate transporters and the power of new animal models of hyperuricemia to inform on the role of sex and hyperuricemia in disease pathogenesis. Finally, we advocate the use of sex differences in urate handling as a potent tool in gaining a further understanding of physiological regulation of urate homeostasis and for presenting new avenues for treating the constellation of urate related pathologies.

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Genetic variants of SLC17A1 are associated with cholesterol homeostasis and hyperhomocysteinaemia in Japanese men

Cited by 6 publications

References 41 publications

Genetic Contribution to Variation in Blood Calcium, Phosphorus, and Alkaline Phosphatase Activity in Pigs

Genetic Contribution to Variation in Blood Calcium, Phosphorus, and Alkaline Phosphatase Activity in Pigs

Serum albumin to globulin ratio is related to cognitive decline via reflection of homeostasis: a nested case-control study

Sex Differences in Urate Handling

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