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Katherine C Hughes, Xiang Gao, Eilis J O'Reilly, Iris Y Kim, Molin Wang, Marc G Weisskopf, Michael A Schwarzschild, Alberto Ascherio
INTRODUCTION: Higher urate concentrations have been associated with a lower risk of developing Parkinson's disease (PD) and with slower rates of clinical decline in PD patients. Whether these associations reflect a neuroprotective effect of urate is unclear. Our objective was to assess whether genetic variants that modify circulating urate levels are also associated with altered PD risk. METHODS: Participants were from three large ongoing cohort studies: the Nurses' Health Study (NHS), the Health Professionals Follow-up Study (HPFS), and the Cancer Prevention Study II Nutrition Cohort (CPS-IIN)...
May 1, 2018: Parkinsonism & related Disorders
Hong-Ling Jia, Xiao-Qin Zeng, Feng Huang, Ya-Meng Liu, Bi-Shuang Gong, Kai-Zhao Zhang, Jiang-Hui Zeng, Dong-Guang Guo, Zhuo-Ya Wang, Yu-Gu Li
MicroRNAs (miRNAs) play key roles in the regulation of gene expression during multiple physiological processes, including early development, differentiation, and ageing. However, their involvement in age-related thymic involution is not clear. In this study, we profiled the global transcriptome and miRNAome of thymic epithelial cells in 1- and 3-month-old male and female mice, and predicted the possible transcription factors and target genes of the four most significantly differentially expressed miRNAs (DEMs) (miR-183-5p, miR-199b-5p, miR-205-5p, and miR-200b-3p) by performing bioinformatics analyses...
May 4, 2018: IUBMB Life
Jan René Nkeck, Madeleine Singwé Ngandeu, Vicky Ama Moor, Jériel Pascal Nkeck, Jean-Pierre Chedjou, Aude Laetitia Ndoadoumgue, Wilfred F Mbacham
OBJECTIVE: To determine the association of non-synonymous variants rs2280205 and rs2276961 of the SLC2A9 gene to gout in Cameroonians. RESULTS: In a case-control study including 30 patients with acute gout matched to 30 healthy volunteers. We searched for polymorphism of the targeted variants using Restriction Fragment Length Polymorphism following polymerize chain reaction. Fisher exact test and Student t-test were used to compare variables, with a threshold of significance set at 0...
April 3, 2018: BMC Research Notes
Weijing Wang, Dongfeng Zhang, Chunsheng Xu, Yili Wu, Haiping Duan, Shuxia Li, Qihua Tan
Serum uric acid (SUA), as the end product of purine metabolism, has proven emerging roles in human disorders. Here based on a sample of 379 middle and old-aged Chinese twin pairs, we aimed to explore the magnitude of genetic impact on SUA variation by performing sex-limitation twin modeling analyses and further detect specific genetic variants related to SUA by conducting a genome-wide association study. Monozygotic (MZ) twin correlation for SUA level (rMZ = 0.56) was larger than for dizygotic (DZ) twin correlation (rDZ = 0...
2018: Frontiers in Endocrinology
Jeonghwan Lee, Young Lee, Boram Park, Sungho Won, Jin Suk Han, Nam Ju Heo
Chronic kidney disease (CKD) is an important social health problem characterized by a decrease in the kidney glomerular filtration rate (GFR). In this study, we analyzed genome-wide association studies for kidney disease-related traits using data from a Korean adult health screening cohort comprising 7,064 participants. Kidney disease-related traits analyzed include blood urea nitrogen (BUN), serum creatinine, estimated GFR, and uric acid levels. We detected two genetic loci (SLC14A2 and an intergenic region) and 8 single nucleotide polymorphisms (SNPs) associated with BUN, 3 genetic loci (BCAS3, C17orf82, ALDH2) and 6 SNPs associated with serum creatinine, 3 genetic loci (BCAS3, C17orf82/TBX2, LRP2) and 7 SNPs associated with GFR, and 14 genetic loci (3 in ABCG2/PKD2, 2 in SLC2A9, 3 in intergenic regions on chromosome 4; OTUB1, NRXN2/SLC22A12, CDC42BPG, RPS6KA4, SLC22A9, and MAP4K2 on chromosome 11) and 84 SNPs associated with uric acid levels...
2018: PloS One
Xiaoying Han, Jing Yang, Dong Li, Zewei Guo
Hepatocellular carcinoma (HCC) is the third leading cause of cancer-associated mortality worldwide. While, the mechanisms of HCC progression are not well understood. Recent studies demonstrated the potential contribution of uric acid transporter SLC2A9 to tumor suppression. However, the roles and underlying mechanisms are still unknown. We aim to study the roles and mechanisms of SLC2A9 in HCC. The present study showed that SLC2A9 expression was decreased in human HCC tissues and cell lines. In addition, Overexpression of SLC2A9 inhibited HCC cell proliferation...
March 9, 2018: Oncology Research
Felix Claverie-Martin, Jorge Trujillo-Suarez, Hilaria Gonzalez-Acosta, Cristina Aparicio, Maria L Justa Roldan, Blanka Stiburkova, Kimiyoshi Ichida, Maria A Martín-Gomez, Maria Herrero Goñi, Marta Carrasco Hidalgo-Barquero, Victoria Iñigo, Ricardo Enriquez, Elizabeth Cordoba-Lanus, Victor M Garcia-Nieto
BACKGROUND: Renal hypouricemia (RHUC), a rare inherited disorder characterized by impaired uric acid (UA) reabsorption in the proximal tubule, is caused by mutations in SLC22A12 or SLC2A9. Most mutations have been identified in Japanese patients, and only a few have been detected in Europeans. METHODS: We report clinical, biochemical and genetics findings of fourteen Spanish patients, six Caucasians and eight of Roma ethnia, diagnosed with idiopathic RHUC. Two of the patients presented exercise-induced acute renal failure and another one had several episodes of nephrolithiasis and four of them had progressive deterioration of renal function, while the rest were asymptomatic...
June 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
Dandan Zhang, Min Yang, Dan Zhou, Zhenli Li, Libin Cai, Yuqian Bao, Hong Li, Zhongyan Shan, Juan Liu, Duo Lv, Yi Liu, Chunxiao Xu, Jie Ling, Yuyang Xu, Shuai Zhang, Qiong Huang, Yongyong Shi, Yimin Zhu, Maode Lai
Serum uric acid (SUA) levels are highly heritable and an increased SUA level is one of important risk factors for gout, diabetes, metabolic syndrome, and cardiovascular diseases. The genetic variants underlying SUA remains largely unexplored. The aim was to explore new genetic variants underlying SUA in Chinese Han. We performed a genome-wide association study of SUA levels in Han Chinese. The discovery set contained 1634 samples and subsequent replication was comprised of 1649 females and 1169 males. 2620 subjects were recruited in the detailed analysis of rs671, alcohol drinking and SUA...
April 20, 2018: Gene
Hung-Pin Tu, Albert Min-Shan Ko, Su-Shin Lee, Chi-Pin Lee, Tzer-Min Kuo, Chung-Ming Huang, Ying-Chin Ko
We investigated the interactions of ALPK1 variants and the loci of ABCG2, SLC2A9, and SLC22A12 on gout risk. We conducted two case-control studies. Participants were recruited from hospitals (n = 410; 104 gout cases and 306 controls) and communities (n = 678; 373 gout cases and 305 controls) in Taiwan. The genotypes of ALPK1 (rs11726117 M861T, rs231247 R1084R, and rs231253 3' UTR), ABCG2 (rs2231142 Q141K and rs2231137 V12M), SLC2A9 (rs3733591 R265H and rs1014290), and SLC22A12 (rs3825016 H86H, rs11231825 H142H, and rs475688) were genotyped...
January 2018: Journal of Human Genetics
Camilla J Kobylecki, Signe Vedel-Krogh, Shoaib Afzal, Sune F Nielsen, Børge G Nordestgaard
BACKGROUND: Urate is a strong antioxidant in plasma and may protect against lung function impairment. We tested the hypothesis that high plasma urate is causally associated with better lung function and low risk of respiratory symptoms and COPD. METHODS: We measured lung function and plasma urate in 114 979 individuals from the Copenhagen City Heart Study and the Copenhagen General Population Study and genotyped for SLC2A9 rs7442295 and ABCG2 rs2231142 variants, previously associated with high plasma urate, in 110 152 individuals...
November 29, 2017: Thorax
Jiangfang Miao, Jing Liu, Li Xiao, Jiedi Zheng, Chunfeng Liu, Zufu Zhu, Kai Li, Weifeng Luo
Individuals with Parkinson's disease (PD) have lower uric acid levels than those without PD, and the CC genotype and C minor allele of a single nucleotide polymorphism (SNP), rs1014290 of SLC2A9 , are associated with lower uric acid levels. We investigated the association of rs1014290 with uric acid metabolism in a cohort of PD cases (220) and controls (110) in a Han Chinese population. Uric acid levels were determined and rs1014290 was assayed using a mutation-sensitive on/off switch technology. PD uric acid levels (291...
2017: Parkinson's Disease
Nicola Dalbeth, Jordyn Allan, Gregory D Gamble, Amanda Phipps-Green, Tanya J Flynn, Borislav Mihov, Anne Horne, Robert Doughty, Lisa K Stamp, Tony R Merriman
OBJECTIVES: Genetic variation in the renal urate transporters SLC2A9 (GLUT9) and SLC22A11 (OAT4) has been reported to interact with diuretics to increase the risk of developing gout. The aim of this study was to determine whether variation in SLC2A9 or SLC22A11 influences acute renal handling of uric acid in response to frusemide. METHODS: Following an overnight fast, healthy participants (n=100) attended a study visit with oral intake of 40 mg frusemide. Blood and urine samples were obtained at baseline and 30, 60, 120 and 180 min after frusemide intake...
2017: RMD Open
Zhiqiang Li, Zhaowei Zhou, Xu Hou, Dajiang Lu, Xuan Yuan, Jie Lu, Can Wang, Lin Han, Lingling Cui, Zhen Liu, Jianhua Chen, Xiaoyu Cheng, Keke Zhang, Jue Ji, Zhaotong Jia, Lidan Ma, Ying Xin, Tian Liu, Qing Yu, Wei Ren, Xuefeng Wang, Xinde Li, Qing-Sheng Mi, Yongyong Shi, Changgui Li
Gout is a chronic disease resulting from elevated serum urate (SU). Previous genome-wide association studies (GWAS) have identified dozens of susceptibility loci for SU/gout, but few have been conducted for Chinese descent. Here, we try to extensively investigate whether these loci contribute to gout risk in Han Chinese. A total of 2255 variants in linkage disequilibrium (LD) with GWAS identified SU/gout associated variants were analyzed in a Han Chinese cohort of 1255 gout patients and 1848 controls. Cumulative genetic risk score analysis was performed to assess the cumulative effect of multiple "risk" variants on gout incidence...
June 22, 2017: Scientific Reports
Camilla J Kobylecki, Shoaib Afzal, Børge G Nordestgaard
BACKGROUND: Observationally, high plasma urate is associated with high risk of cancer. We used a Mendelian randomization design to test the hypothesis that high concentrations of plasma urate are associated with high cancer incidence and all-cause mortality observationally and genetically. METHODS: We performed observational and genetic analyses using plasma urate and the urate solute carrier family 2 member 9 (SLC2A9) rs7442295 genotype in 86210 individuals from the Copenhagen General Population Study...
June 2017: Clinical Chemistry
Wendy He, Amanda Phipps-Green, Lisa K Stamp, Tony R Merriman, Nicola Dalbeth
BACKGROUND: Tophi contribute to musculoskeletal disability, joint damage and poor health-related quality of life in people with gout. The aim of this study was to examine the role of SLC2A9 and ABCG2 variants in tophaceous disease in people with gout. METHODS: Participants (n = 1778) with gout fulfilling the 1977 American Rheumatism Association (ARA) classification criteria, who were recruited from primary and secondary care, attended a detailed study visit...
March 7, 2017: Arthritis Research & Therapy
Reka Nagy, Thibaud S Boutin, Jonathan Marten, Jennifer E Huffman, Shona M Kerr, Archie Campbell, Louise Evenden, Jude Gibson, Carmen Amador, David M Howard, Pau Navarro, Andrew Morris, Ian J Deary, Lynne J Hocking, Sandosh Padmanabhan, Blair H Smith, Peter Joshi, James F Wilson, Nicholas D Hastie, Alan F Wright, Andrew M McIntosh, David J Porteous, Chris S Haley, Veronique Vitart, Caroline Hayward
BACKGROUND: The Generation Scotland: Scottish Family Health Study (GS:SFHS) is a family-based population cohort with DNA, biological samples, socio-demographic, psychological and clinical data from approximately 24,000 adult volunteers across Scotland. Although data collection was cross-sectional, GS:SFHS became a prospective cohort due to of the ability to link to routine Electronic Health Record (EHR) data. Over 20,000 participants were selected for genotyping using a large genome-wide array...
March 7, 2017: Genome Medicine
Wentong Long, Rashmi Panigrahi, Pankaj Panwar, Kenneth Wong, Debbie O Neill, Xing-Zhen Chen, M Joanne Lemieux, Chris I Cheeseman
Human glucose transporter 9 (hSLC2A9) is critical in human urate homeostasis, for which very small deviations can lead to chronic or acute metabolic disorders. Human SLC2A9 is unique in that it transports hexoses as well as the organic anion, urate. This ability is in contrast to other homologous sugar transporters such as glucose transporters 1 and 5 (SLC2A1 &SLC2A5) and the xylose transporter (XylE), despite the fact that these transporters have similar protein structures. Our in silico substrate docking study has revealed that urate and fructose bind within the same binding pocket in hSLC2A9, yet with distinct orientations, and allowed us to identify novel residues for urate binding...
January 24, 2017: Scientific Reports
Saeid Saeidimehr, Ammar Ebrahimi, Najmaldin Saki, Parisa Goodarzi, Fakher Rahim
Ageing is a complex process and a broad spectrum of physical, psychological, and social changes over time. Accompanying diseases and disabilities, which can interfere with cancer treatment and recovery, occur in old ages. MicroRNAs (miRNAs) are a set of small non-coding RNAs, which have considerable roles in post-transcriptional regulation at gene expression level. In this review, we attempted to summarize the current knowledge of miRNAs functions in ageing, with mainly focuses on malignancies and all underlying genetic, molecular and epigenetics mechanisms...
July 2016: Cell Journal
Esha Das Gupta, Rajalingham Sakthiswary, Shing L Lee, Shew F Wong, Heselynn Hussein, Suk C Gun
AIM: The main objective of this study is to elucidate the clinical significance of the SLC2A9/GLUT9 rs11722228 polymorphism among male gout patients. METHOD: We consecutively recruited all newly diagnosed male gout patients who were treatment-naive from the rheumatology outpatient clinics of two Malaysian hospitals. Age-matched healthy male adults were employed as controls. All subjects were tested for the SLC2A9/GLUT9 rs11722228 genotypes, serum uric acid (SUA), urine uric acid and creatinine levels...
March 2018: International Journal of Rheumatic Diseases
Fengjiang Wei, Baocheng Chang, Xilin Yang, Yaogang Wang, Liming Chen, Wei-Dong Li
The aim of the study was to decipher the relationship between serum uric acid (SUA) and glycated hemoglobin A1c (HbA1c) or fasting plasma glucose (FPG) in both type 2 diabetes mellitus (T2DM) patients and normal subjects. A total of 2,250 unrelated T2DM patients and 4,420 Han Chinese subjects from a physical examination population were recruited for this study. In T2DM patients SUA levels were negatively correlated with HbA1c (rs = -0.109, P = 0.000) and 2 h plasma glucose levels (rs = -0.178, P = 0...
2016: Scientific Reports
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