Common variation at 16p11.2 is associated with glycosuria in pregnancy:Findings from a genome-wide association study in European women
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...
Published in: | Human Molecular Genetics |
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2020
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Online Access: | https://hdl.handle.net/1983/b624860f-54f2-4230-b53b-641073416a76 https://research-information.bris.ac.uk/en/publications/b624860f-54f2-4230-b53b-641073416a76 https://doi.org/10.1093/hmg/ddaa054 https://research-information.bris.ac.uk/ws/files/245595438/untitled.pdf |
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ftubristolcris:oai:research-information.bris.ac.uk:publications/b624860f-54f2-4230-b53b-641073416a76 2024-02-04T10:03:14+01:00 Common variation at 16p11.2 is associated with glycosuria in pregnancy:Findings from a genome-wide association study in European women Lee, Matthew McMahon, George Karhunen, Ville Wade, Kaitlin H Corbin, Laura J Hughes, David A Davey Smith, George Lawlor, Debbie A Jarvelin, Marjo-Riitta Timpson, Nicholas John 2020-06-15 application/pdf https://hdl.handle.net/1983/b624860f-54f2-4230-b53b-641073416a76 https://research-information.bris.ac.uk/en/publications/b624860f-54f2-4230-b53b-641073416a76 https://doi.org/10.1093/hmg/ddaa054 https://research-information.bris.ac.uk/ws/files/245595438/untitled.pdf eng eng info:eu-repo/semantics/openAccess Lee , M , McMahon , G , Karhunen , V , Wade , K H , Corbin , L J , Hughes , D A , Davey Smith , G , Lawlor , D A , Jarvelin , M-R & Timpson , N J 2020 , ' Common variation at 16p11.2 is associated with glycosuria in pregnancy : Findings from a genome-wide association study in European women ' , Human Molecular Genetics , vol. 29 , no. 12 , pp. 9 . https://doi.org/10.1093/hmg/ddaa054 /dk/atira/pure/core/keywords/alspac ALSPAC FGFP GWAS - genome-wide association study article 2020 ftubristolcris https://doi.org/10.1093/hmg/ddaa054 2024-01-11T23:42:42Z 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. Article in Journal/Newspaper Northern Finland University of Bristol: Bristol Research Human Molecular Genetics 29 12 2098 2106 |
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Open Polar |
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University of Bristol: Bristol Research |
op_collection_id |
ftubristolcris |
language |
English |
topic |
/dk/atira/pure/core/keywords/alspac ALSPAC FGFP GWAS - genome-wide association study |
spellingShingle |
/dk/atira/pure/core/keywords/alspac ALSPAC FGFP GWAS - genome-wide association study Lee, Matthew McMahon, George Karhunen, Ville Wade, Kaitlin H Corbin, Laura J Hughes, David A Davey Smith, George Lawlor, Debbie A Jarvelin, Marjo-Riitta Timpson, Nicholas John Common variation at 16p11.2 is associated with glycosuria in pregnancy:Findings from a genome-wide association study in European women |
topic_facet |
/dk/atira/pure/core/keywords/alspac ALSPAC FGFP GWAS - genome-wide association study |
description |
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. |
format |
Article in Journal/Newspaper |
author |
Lee, Matthew McMahon, George Karhunen, Ville Wade, Kaitlin H Corbin, Laura J Hughes, David A Davey Smith, George Lawlor, Debbie A Jarvelin, Marjo-Riitta Timpson, Nicholas John |
author_facet |
Lee, Matthew McMahon, George Karhunen, Ville Wade, Kaitlin H Corbin, Laura J Hughes, David A Davey Smith, George Lawlor, Debbie A Jarvelin, Marjo-Riitta Timpson, Nicholas John |
author_sort |
Lee, Matthew |
title |
Common variation at 16p11.2 is associated with glycosuria in pregnancy:Findings from a genome-wide association study in European women |
title_short |
Common variation at 16p11.2 is associated with glycosuria in pregnancy:Findings from a genome-wide association study in European women |
title_full |
Common variation at 16p11.2 is associated with glycosuria in pregnancy:Findings from a genome-wide association study in European women |
title_fullStr |
Common variation at 16p11.2 is associated with glycosuria in pregnancy:Findings from a genome-wide association study in European women |
title_full_unstemmed |
Common variation at 16p11.2 is associated with glycosuria in pregnancy:Findings from a genome-wide association study in European women |
title_sort |
common variation at 16p11.2 is associated with glycosuria in pregnancy:findings from a genome-wide association study in european women |
publishDate |
2020 |
url |
https://hdl.handle.net/1983/b624860f-54f2-4230-b53b-641073416a76 https://research-information.bris.ac.uk/en/publications/b624860f-54f2-4230-b53b-641073416a76 https://doi.org/10.1093/hmg/ddaa054 https://research-information.bris.ac.uk/ws/files/245595438/untitled.pdf |
genre |
Northern Finland |
genre_facet |
Northern Finland |
op_source |
Lee , M , McMahon , G , Karhunen , V , Wade , K H , Corbin , L J , Hughes , D A , Davey Smith , G , Lawlor , D A , Jarvelin , M-R & Timpson , N J 2020 , ' Common variation at 16p11.2 is associated with glycosuria in pregnancy : Findings from a genome-wide association study in European women ' , Human Molecular Genetics , vol. 29 , no. 12 , pp. 9 . https://doi.org/10.1093/hmg/ddaa054 |
op_rights |
info:eu-repo/semantics/openAccess |
op_doi |
https://doi.org/10.1093/hmg/ddaa054 |
container_title |
Human Molecular Genetics |
container_volume |
29 |
container_issue |
12 |
container_start_page |
2098 |
op_container_end_page |
2106 |
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1789970519167074304 |