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Glycosuria is a condition where glucose is detected in urine at higher concentrations than normal (i.e. not detectable). Glycosuria at some point during pregnancy has an estimated prevalence of 50% and is associated with adverse outcomes in both mothers and offspring. Little is currently known about the genetic contribution to this trait or the extent to which it overlaps with other seemingly related traits, e.g. diabetes. We performed a genome-wide association study (GWAS) for self-reported glycosuria in pregnant mothers from the Avon Longitudinal Study of Parents and Children (ALSPAC; cases/controls = 1249/5140). We identified two loci, one of which (lead SNP = rs13337037; chromosome 16; odds ratio (OR) of glycosuria per effect allele: 1.42; 95%CI: 1.30,1.56; P = 1.97x10−13) was then validated using an obstetric-measure of glycosuria measured in the same cohort (227/6639). We performed a secondary GWAS in the 1986 Northern Finland Birth Cohort (NFBC1986; 747/2991) using midwife-reported glycosuria and offspring genotype as a proxy for maternal genotype. The combined results revealed evidence for a consistent effect on glycosuria at the chromosome 16 locus. In follow-up analyses, we saw little evidence of shared genetic underpinnings with the exception of urinary albumin-to-creatinine ratio (Rg = 0.64; SE = 0.22; P = 0.0042), a biomarker of kidney disease. In conclusion, we identified a genetic association with self-reported glycosuria during pregnancy, with the lead SNP located 15kB upstream of SLC5A2, a target of antidiabetic drugs. The lack of strong genetic correlation with seemingly related traits such as type 2 diabetes suggests different genetic risk factors exist for glycosuria during pregnancy.
|Number of pages||2098|
|Journal||Human Molecular Genetics|
|Early online date||30 Mar 2020|
|Publication status||Published - 15 Jun 2020|
- GWAS - genome-wide association study
FingerprintDive into the research topics of 'Common variation at 16p11.2 is associated with glycosuria in pregnancy: Findings from a genome-wide association study in European women'. Together they form a unique fingerprint.
- 1 Active
IEU: MRC Integrative Epidemiology Unit Quinquennial renewal
Gaunt, L. F. & Davey Smith, G.
1/04/18 → 31/03/23
Glycosuria GWAS results
Corbin, L. J. (Creator), Lee, M. (Creator) & Timpson, N. J. (Data Manager), University of Bristol, 31 Dec 2019
DOI: 10.5523/bris.9vjsikubd658257lbu6lrizog, http://data.bris.ac.uk/data/dataset/9vjsikubd658257lbu6lrizog
HPC (High Performance Computing) Facility
Sadaf R Alam (Manager), Steven A Chapman (Manager), Polly E Eccleston (Other), Simon H Atack (Other) & D A G Williams (Manager)