DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Fasting plasma glucose. The EFO term fasting blood glucose measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: fasting blood glucose measurement

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

WM Chen, MR Erdos, AU Jackson, R Saxena, S Sanna, KD Silver, NJ Timpson, T Hansen, M Orrù, M Grazia Piras, LL Bonnycastle, CJ Willer, V Lyssenko, H Shen, J Kuusisto, S Ebrahim, N Sestu, WL Duren, MC Spada, HM Stringham, LJ Scott, N Olla, AJ Swift, S Najjar, BD Mitchell, DA Lawlor, GD Smith, Y Ben-Shlomo, G Andersen, K Borch-Johnsen, T Jørgensen, J Saramies, TT Valle, TA Buchanan, AR Shuldiner, E Lakatta, RN Bergman, M Uda, J Tuomilehto, O Pedersen, A Cao, L Groop, KL Mohlke, M Laakso, D Schlessinger, FS Collins, D Altshuler, GR Abecasis, M Boehnke, A Scuteri, RM Watanabe

TITLE:

Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.

JOURNAL:

The Journal of clinical investigation Jul 2008, Vol 118, pp. 2620-8

ABSTRACT:

Identifying the genetic variants that regulate fasting glucose concentrations may further our understanding of the pathogenesis of diabetes. We therefore investigated the association of fasting glucose levels with SNPs in 2 genome-wide scans including a total of 5,088 nondiabetic individuals from Finland and Sardinia. We found a significant association between the SNP rs563694 and fasting glucose concentrations (P = 3.5 x 10(-7)). This association was further investigated in an additional 18,436 nondiabetic individuals of mixed European descent from 7 different studies. The combined P value for association in these follow-up samples was 6.9 x 10(-26), and combining results from all studies resulted in an overall P value for association of 6.4 x 10(-33). Across these studies, fasting glucose concentrations increased 0.01-0.16 mM with each copy of the major allele, accounting for approximately 1% of the total variation in fasting glucose. The rs563694 SNP is located between the genes glucose-6-phosphatase catalytic subunit 2 (G6PC2) and ATP-binding cassette, subfamily B (MDR/TAP), member 11 (ABCB11). Our results in combination with data reported in the literature suggest that G6PC2, a glucose-6-phosphatase almost exclusively expressed in pancreatic islet cells, may underlie variation in fasting glucose, though it is possible that ABCB11, which is expressed primarily in liver, may also contribute to such variation. PUBMED: 18521185
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