Association of genetic variants at 3q22 with nephropathy in patients with type 1 diabetes mellitus.
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field Diabetic nephropathy (DN) is the primary cause of morbidity and mortality in patients with type 1 diabetes mellitus (T1DM) and affects about 30% of these patients. We have previously locali...
Published in: | The American Journal of Human Genetics |
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ftlandspitaliuni:oai:www.hirsla.lsh.is:2336/108323 2023-05-15T16:51:49+02:00 Association of genetic variants at 3q22 with nephropathy in patients with type 1 diabetes mellitus. He, Bing Osterholm, Anne-May Hoverfält, Anna Forsblom, Carol Hjorleifsdottir, Eyrun Edda Nilsson, Ann-Sofie Parkkonen, Maikki Pitkäniemi, Janne Hreidarsson, Astradur Sarti, Cinzia McKnight, Amy Jayne Maxwell, A Peter Tuomilehto, Jaakko Groop, Per-Henrik Tryggvason, Karl Division of Matrix Biology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 171 77 Stockholm, Sweden. 2010-07-26 http://hdl.handle.net/2336/108323 https://doi.org/10.1016/j.ajhg.2008.11.012 en eng http://dx.doi.org/10.1016/j.ajhg.2008.11.012 Am. J. Hum. Genet. 2009, 84(1):5-13 1537-6605 19084216 doi:10.1016/j.ajhg.2008.11.012 http://hdl.handle.net/2336/108323 American journal of human genetics Adult Aged Chromosomes Human Pair 3 Diabetes Mellitus Type 1 Diabetic Nephropathies Female Genetic Predisposition to Disease Genetic Variation Humans Linkage (Genetics) Male Middle Aged Polymorphism Single Nucleotide Article 2010 ftlandspitaliuni https://doi.org/10.1016/j.ajhg.2008.11.012 2022-05-29T08:21:34Z To access publisher full text version of this article. Please click on the hyperlink in Additional Links field Diabetic nephropathy (DN) is the primary cause of morbidity and mortality in patients with type 1 diabetes mellitus (T1DM) and affects about 30% of these patients. We have previously localized a DN locus on chromosome 3q with suggestive linkage in Finnish individuals. Linkage to this region has also been reported earlier by several other groups. To fine map this locus, we conducted a multistage case-control association study in T1DM patients, comprising 1822 cases with nephropathy and 1874 T1DM patients free of nephropathy, from Finland, Iceland, and the British Isles. At the screening stage, we genotyped 3072 tag SNPs, spanning a 28 Mb region, in 234 patients and 215 controls from Finland. SNPs that met the significance threshold of p < 0.01 at this stage were followed up by a series of sample sets. A genetic variant, rs1866813, in the noncoding region at 3q22 was associated with increased risk of DN (overall p = 7.07 x 10(-6), combined odds ratio [OR] of the allele = 1.33). The estimated genotypic ORs of this variant in all Finnish samples suggested a codominant effect, resulting in significant association, with a p value of 4.7 x 10(-5) (OR = 1.38; 95% confidence interval = 1.18-1.62). Additionally, an 11 kb segment flanked by rs62408925 and rs1866813, two strongly correlated variants (r(2) = 0.95), contains three elements highly conserved across multiple species. Independent replication will clarify the role of the associated variants at 3q22 in influencing the risk of DN. Article in Journal/Newspaper Iceland Hirsla - Landspítali University Hospital research archive The American Journal of Human Genetics 84 1 5 13 |
institution |
Open Polar |
collection |
Hirsla - Landspítali University Hospital research archive |
op_collection_id |
ftlandspitaliuni |
language |
English |
topic |
Adult Aged Chromosomes Human Pair 3 Diabetes Mellitus Type 1 Diabetic Nephropathies Female Genetic Predisposition to Disease Genetic Variation Humans Linkage (Genetics) Male Middle Aged Polymorphism Single Nucleotide |
spellingShingle |
Adult Aged Chromosomes Human Pair 3 Diabetes Mellitus Type 1 Diabetic Nephropathies Female Genetic Predisposition to Disease Genetic Variation Humans Linkage (Genetics) Male Middle Aged Polymorphism Single Nucleotide He, Bing Osterholm, Anne-May Hoverfält, Anna Forsblom, Carol Hjorleifsdottir, Eyrun Edda Nilsson, Ann-Sofie Parkkonen, Maikki Pitkäniemi, Janne Hreidarsson, Astradur Sarti, Cinzia McKnight, Amy Jayne Maxwell, A Peter Tuomilehto, Jaakko Groop, Per-Henrik Tryggvason, Karl Association of genetic variants at 3q22 with nephropathy in patients with type 1 diabetes mellitus. |
topic_facet |
Adult Aged Chromosomes Human Pair 3 Diabetes Mellitus Type 1 Diabetic Nephropathies Female Genetic Predisposition to Disease Genetic Variation Humans Linkage (Genetics) Male Middle Aged Polymorphism Single Nucleotide |
description |
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field Diabetic nephropathy (DN) is the primary cause of morbidity and mortality in patients with type 1 diabetes mellitus (T1DM) and affects about 30% of these patients. We have previously localized a DN locus on chromosome 3q with suggestive linkage in Finnish individuals. Linkage to this region has also been reported earlier by several other groups. To fine map this locus, we conducted a multistage case-control association study in T1DM patients, comprising 1822 cases with nephropathy and 1874 T1DM patients free of nephropathy, from Finland, Iceland, and the British Isles. At the screening stage, we genotyped 3072 tag SNPs, spanning a 28 Mb region, in 234 patients and 215 controls from Finland. SNPs that met the significance threshold of p < 0.01 at this stage were followed up by a series of sample sets. A genetic variant, rs1866813, in the noncoding region at 3q22 was associated with increased risk of DN (overall p = 7.07 x 10(-6), combined odds ratio [OR] of the allele = 1.33). The estimated genotypic ORs of this variant in all Finnish samples suggested a codominant effect, resulting in significant association, with a p value of 4.7 x 10(-5) (OR = 1.38; 95% confidence interval = 1.18-1.62). Additionally, an 11 kb segment flanked by rs62408925 and rs1866813, two strongly correlated variants (r(2) = 0.95), contains three elements highly conserved across multiple species. Independent replication will clarify the role of the associated variants at 3q22 in influencing the risk of DN. |
author2 |
Division of Matrix Biology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 171 77 Stockholm, Sweden. |
format |
Article in Journal/Newspaper |
author |
He, Bing Osterholm, Anne-May Hoverfält, Anna Forsblom, Carol Hjorleifsdottir, Eyrun Edda Nilsson, Ann-Sofie Parkkonen, Maikki Pitkäniemi, Janne Hreidarsson, Astradur Sarti, Cinzia McKnight, Amy Jayne Maxwell, A Peter Tuomilehto, Jaakko Groop, Per-Henrik Tryggvason, Karl |
author_facet |
He, Bing Osterholm, Anne-May Hoverfält, Anna Forsblom, Carol Hjorleifsdottir, Eyrun Edda Nilsson, Ann-Sofie Parkkonen, Maikki Pitkäniemi, Janne Hreidarsson, Astradur Sarti, Cinzia McKnight, Amy Jayne Maxwell, A Peter Tuomilehto, Jaakko Groop, Per-Henrik Tryggvason, Karl |
author_sort |
He, Bing |
title |
Association of genetic variants at 3q22 with nephropathy in patients with type 1 diabetes mellitus. |
title_short |
Association of genetic variants at 3q22 with nephropathy in patients with type 1 diabetes mellitus. |
title_full |
Association of genetic variants at 3q22 with nephropathy in patients with type 1 diabetes mellitus. |
title_fullStr |
Association of genetic variants at 3q22 with nephropathy in patients with type 1 diabetes mellitus. |
title_full_unstemmed |
Association of genetic variants at 3q22 with nephropathy in patients with type 1 diabetes mellitus. |
title_sort |
association of genetic variants at 3q22 with nephropathy in patients with type 1 diabetes mellitus. |
publishDate |
2010 |
url |
http://hdl.handle.net/2336/108323 https://doi.org/10.1016/j.ajhg.2008.11.012 |
genre |
Iceland |
genre_facet |
Iceland |
op_relation |
http://dx.doi.org/10.1016/j.ajhg.2008.11.012 Am. J. Hum. Genet. 2009, 84(1):5-13 1537-6605 19084216 doi:10.1016/j.ajhg.2008.11.012 http://hdl.handle.net/2336/108323 American journal of human genetics |
op_doi |
https://doi.org/10.1016/j.ajhg.2008.11.012 |
container_title |
The American Journal of Human Genetics |
container_volume |
84 |
container_issue |
1 |
container_start_page |
5 |
op_container_end_page |
13 |
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1766041919610159104 |