Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.
We carried out a genome-wide association study of hemoglobin levels in 16,001 individuals of European and Indian Asian ancestry. The most closely associated SNP (rs855791) results in nonsynonymous (V736A) change in the serine protease domain of TMPRSS6 and a blood hemoglobin concentration 0.13 (95%...
| Main Authors: | , , , , , , , , , , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2009
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| _version_ | 1797086691278716928 |
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| author | Chambers, J Zhang, W Li, Y Sehmi, J Wass, M Zabaneh, D Hoggart, C Bayele, H McCarthy, M Peltonen, L Freimer, N Srai, S Maxwell, P Sternberg, M Ruokonen, A Abecasis, G Jarvelin, MR Scott, J Elliott, P Kooner, J |
| author_facet | Chambers, J Zhang, W Li, Y Sehmi, J Wass, M Zabaneh, D Hoggart, C Bayele, H McCarthy, M Peltonen, L Freimer, N Srai, S Maxwell, P Sternberg, M Ruokonen, A Abecasis, G Jarvelin, MR Scott, J Elliott, P Kooner, J |
| author_sort | Chambers, J |
| collection | OXFORD |
| description | We carried out a genome-wide association study of hemoglobin levels in 16,001 individuals of European and Indian Asian ancestry. The most closely associated SNP (rs855791) results in nonsynonymous (V736A) change in the serine protease domain of TMPRSS6 and a blood hemoglobin concentration 0.13 (95% CI 0.09-0.17) g/dl lower per copy of allele A (P = 1.6 x 10(-13)). Our findings suggest that TMPRSS6, a regulator of hepcidin synthesis and iron handling, is crucial in hemoglobin level maintenance. |
| first_indexed | 2024-03-07T02:25:33Z |
| format | Journal article |
| id | oxford-uuid:a572c317-3302-44c5-b95b-b6eac659e2b7 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T02:25:33Z |
| publishDate | 2009 |
| record_format | dspace |
| spelling | oxford-uuid:a572c317-3302-44c5-b95b-b6eac659e2b72022-03-27T02:40:41ZGenome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:a572c317-3302-44c5-b95b-b6eac659e2b7EnglishSymplectic Elements at Oxford2009Chambers, JZhang, WLi, YSehmi, JWass, MZabaneh, DHoggart, CBayele, HMcCarthy, MPeltonen, LFreimer, NSrai, SMaxwell, PSternberg, MRuokonen, AAbecasis, GJarvelin, MRScott, JElliott, PKooner, JWe carried out a genome-wide association study of hemoglobin levels in 16,001 individuals of European and Indian Asian ancestry. The most closely associated SNP (rs855791) results in nonsynonymous (V736A) change in the serine protease domain of TMPRSS6 and a blood hemoglobin concentration 0.13 (95% CI 0.09-0.17) g/dl lower per copy of allele A (P = 1.6 x 10(-13)). Our findings suggest that TMPRSS6, a regulator of hepcidin synthesis and iron handling, is crucial in hemoglobin level maintenance. |
| spellingShingle | Chambers, J Zhang, W Li, Y Sehmi, J Wass, M Zabaneh, D Hoggart, C Bayele, H McCarthy, M Peltonen, L Freimer, N Srai, S Maxwell, P Sternberg, M Ruokonen, A Abecasis, G Jarvelin, MR Scott, J Elliott, P Kooner, J Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. |
| title | Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. |
| title_full | Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. |
| title_fullStr | Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. |
| title_full_unstemmed | Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. |
| title_short | Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. |
| title_sort | genome wide association study identifies variants in tmprss6 associated with hemoglobin levels |
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