Practical Experience of the Application of a Weighted Burden Test to Whole Exome Sequence Data for Obesity and Schizophrenia.
London, United Kingdom. In Ann Hum Genet, Jan 2016
These include MC4R, NLGN2, CRP, DONSON, GTF3A, IL36B, ADCYAP1R1, ARSA, DLG1, SIK2, SLAIN1, UBE2Q2, ZNF507, CRHR1, MUSK, NSF, SNORD115, GDF3 and HIBADH.
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
Freiburg, Germany. In Nat Genet, 2013
By combining data from >140,000 individuals of European ancestry within the Global Urate Genetics Consortium (GUGC), we identified and replicated 28 genome-wide significant loci in association with serum urate concentrations (18 new regions in or near TRIM46, INHBB, SFMBT1, TMEM171, VEGFA, BAZ1B, PRKAG2, STC1, HNF4G, A1CF, ATXN2, UBE2Q2, IGF1R, NFAT5, MAF, HLF, ACVR1B-ACVRL1 and B3GNT4).
Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD.
Regensburg, Germany. In Plos Genet, 2011
SNPs at 11 of the 16 loci (UMOD, PRKAG2, ANXA9, DAB2, SHROOM3, DACH1, STC1, SLC34A1, ALMS1/NAT8, UBE2Q2, and GCKR) were associated with incident CKD; p-values ranged from p = 4.1e-9 in UMOD to p = 0.03 in GCKR.
Chronic kidney disease: novel insights from genome-wide association studies.
Regensburg, Germany. In Kidney Blood Press Res, 2010
UMOD, SHROOM3, STC1, LASS2, GCKR, ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, PRKAG2, PIP5K1B, ATXN2/SH2B3, DACH1, UBE2Q2, and SLC7A9 were uncovered as loci associated with estimated glomerular filtration rate (eGFR) and CKD, and CUBN as a locus for albuminuria in cross-sectional data of general population studies.
Genome-wide association studies in nephrology research.
Freiburg, Germany. In Am J Kidney Dis, 2010
For example, common variants in the UMOD and PRKAG2 genes are associated with risk of chronic kidney disease; variants in CLDN14 with risk of kidney stone disease; and variants in or near SHROOM3, STC1, LASS2, GCKR, NAT8/ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, FAM122A/PIP5K1B, ATXN2, DACH1, UBE2Q2/FBXO22, and SLC7A9, with differences in glomerular filtration rate.
New loci associated with kidney function and chronic kidney disease.
Baltimore, United States. In Nat Genet, 2010
Follow-up of the 23 new genome-wide-significant loci (P < 5 x 10(-8)) in 22,982 replication samples identified 13 new loci affecting renal function and CKD (in or near LASS2, GCKR, ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, PRKAG2, PIP5K1B, ATXN2, DACH1, UBE2Q2 and SLC7A9) and 7 loci suspected to affect creatinine production and secretion (CPS1, SLC22A2, TMEM60, WDR37, SLC6A13, WDR72 and BCAS3).
Overexpression of the novel human gene, UBE2Q2, in breast cancer.
Shīrāz, Iran. In Cancer Genet Cytogenet, 2010
In the 21 breast cancer cases investigated, a high increase in UBE2Q2 expression was found in 8 breast cancers (38.1%), a moderately increased UBE2Q2 expression was observed in 7 cases (33.3%), and no sig. changes were detected in 6 cases (28.6%).
Feeding induced changes in the hypothalamic transcriptome.
Québec, Canada. In Clin Chim Acta, 2009
Among these, 2 transcripts have mitochondrial functions (MtCo1, Ppid), 3 are involved in protein transport and regulation (Ube2q2, Mup1, Sec13), 1 in cellular pH control (Slc4a3) and another 1 has a role in the epigenetic control of gene expression (Setd3).