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The impact of low-frequency and rare variants on lipid levels.

Surakka, Ida (author)
Horikoshi, Momoko (author)
Mägi, Reedik (author)
show more...
Sarin, Antti-Pekka (author)
Mahajan, Anubha (author)
Lagou, Vasiliki (author)
Marullo, Letizia (author)
Ferreira, Teresa (author)
Miraglio, Benjamin (author)
Timonen, Sanna (author)
Kettunen, Johannes (author)
Pirinen, Matti (author)
Karjalainen, Juha (author)
Thorleifsson, Gudmar (author)
Hägg, Sara (author)
Karolinska Institutet,Uppsala universitet,Molekylär epidemiologi,Science for Life Laboratory, SciLifeLab
Hottenga, Jouke-Jan (author)
Isaacs, Aaron (author)
Ladenvall, Claes (author)
Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups
Beekman, Marian (author)
Esko, Tõnu (author)
Ried, Janina S (author)
Nelson, Christopher P (author)
Willenborg, Christina (author)
Gustafsson, Stefan (author)
Uppsala universitet,Molekylär epidemiologi,Science for Life Laboratory, SciLifeLab
Westra, Harm-Jan (author)
Blades, Matthew (author)
de Craen, Anton J M (author)
de Geus, Eco J (author)
Deelen, Joris (author)
Grallert, Harald (author)
Hamsten, Anders (author)
Karolinska Institutet
Havulinna, Aki S (author)
Hengstenberg, Christian (author)
Houwing-Duistermaat, Jeanine J (author)
Hyppönen, Elina (author)
Karssen, Lennart C (author)
Lehtimäki, Terho (author)
Lyssenko, Valeriya (author)
Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups
Magnusson, Patrik K E (author)
Karolinska Institutet
Mihailov, Evelin (author)
Müller-Nurasyid, Martina (author)
Mpindi, John-Patrick (author)
Lind, Lars (author)
Karolinska Institutet,Uppsala universitet,Kardiovaskulär epidemiologi
Penninx, Brenda W J H (author)
Perola, Markus (author)
Pers, Tune H (author)
Peters, Annette (author)
Rung, Johan (author)
Smit, Johannes H (author)
Steinthorsdottir, Valgerdur (author)
Tobin, Martin D (author)
Tsernikova, Natalia (author)
van Leeuwen, Elisabeth M (author)
Viikari, Jorma S (author)
Willems, Sara M (author)
Willemsen, Gonneke (author)
Schunkert, Heribert (author)
Erdmann, Jeanette (author)
Samani, Nilesh J (author)
Kaprio, Jaakko (author)
Lind, Lars (author)
Gieger, Christian (author)
Metspalu, Andres (author)
Slagboom, P Eline (author)
Groop, Leif (author)
Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups
van Duijn, Cornelia M (author)
Eriksson, Johan G (author)
Jula, Antti (author)
Salomaa, Veikko (author)
Boomsma, Dorret I (author)
Power, Christine (author)
Raitakari, Olli T (author)
Ingelsson, Erik (author)
Uppsala universitet,Molekylär epidemiologi,Science for Life Laboratory, SciLifeLab
Järvelin, Marjo-Riitta (author)
Thorsteinsdottir, Unnur (author)
Franke, Lude (author)
Ikonen, Elina (author)
Kallioniemi, Olli (author)
Pietiäinen, Vilja (author)
Lindgren, Cecilia M (author)
Stefansson, Kari (author)
Palotie, Aarno (author)
McCarthy, Mark I (author)
Morris, Andrew P (author)
Prokopenko, Inga (author)
Ripatti, Samuli (author)
Karjalainen, Julia (author)
show less...
 (creator_code:org_t)
2015-05-11
2015
English.
In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 47:6, s. 589-597
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • Using a genome-wide screen of 9.6 million genetic variants achieved through 1000 Genomes Project imputation in 62,166 samples, we identify association to lipid traits in 93 loci, including 79 previously identified loci with new lead SNPs and 10 new loci, 15 loci with a low-frequency lead SNP and 10 loci with a missense lead SNP, and 2 loci with an accumulation of rare variants. In six loci, SNPs with established function in lipid genetics (CELSR2, GCKR, LIPC and APOE) or candidate missense mutations with predicted damaging function (CD300LG and TM6SF2) explained the locus associations. The low-frequency variants increased the proportion of variance explained, particularly for low-density lipoprotein cholesterol and total cholesterol. Altogether, our results highlight the impact of low-frequency variants in complex traits and show that imputation offers a cost-effective alternative to resequencing.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

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By the author/editor
Surakka, Ida
Horikoshi, Momok ...
Mägi, Reedik
Sarin, Antti-Pek ...
Mahajan, Anubha
Lagou, Vasiliki
show more...
Marullo, Letizia
Ferreira, Teresa
Miraglio, Benjam ...
Timonen, Sanna
Kettunen, Johann ...
Pirinen, Matti
Karjalainen, Juh ...
Thorleifsson, Gu ...
Hägg, Sara
Hottenga, Jouke- ...
Isaacs, Aaron
Ladenvall, Claes
Beekman, Marian
Esko, Tõnu
Ried, Janina S
Nelson, Christop ...
Willenborg, Chri ...
Gustafsson, Stef ...
Westra, Harm-Jan
Blades, Matthew
de Craen, Anton ...
de Geus, Eco J
Deelen, Joris
Grallert, Harald
Hamsten, Anders
Havulinna, Aki S
Hengstenberg, Ch ...
Houwing-Duisterm ...
Hyppönen, Elina
Karssen, Lennart ...
Lehtimäki, Terho
Lyssenko, Valeri ...
Magnusson, Patri ...
Mihailov, Evelin
Müller-Nurasyid, ...
Mpindi, John-Pat ...
Lind, Lars
Penninx, Brenda ...
Perola, Markus
Pers, Tune H
Peters, Annette
Rung, Johan
Smit, Johannes H
Steinthorsdottir ...
Tobin, Martin D
Tsernikova, Nata ...
van Leeuwen, Eli ...
Viikari, Jorma S
Willems, Sara M
Willemsen, Gonne ...
Schunkert, Herib ...
Erdmann, Jeanett ...
Samani, Nilesh J
Kaprio, Jaakko
Gieger, Christia ...
Metspalu, Andres
Slagboom, P Elin ...
Groop, Leif
van Duijn, Corne ...
Eriksson, Johan ...
Jula, Antti
Salomaa, Veikko
Boomsma, Dorret ...
Power, Christine
Raitakari, Olli ...
Ingelsson, Erik
Järvelin, Marjo- ...
Thorsteinsdottir ...
Franke, Lude
Ikonen, Elina
Kallioniemi, Oll ...
Pietiäinen, Vilj ...
Lindgren, Cecili ...
Stefansson, Kari
Palotie, Aarno
McCarthy, Mark I
Morris, Andrew P
Prokopenko, Inga
Ripatti, Samuli
Karjalainen, Jul ...
show less...
About the subject
MEDICAL AND HEALTH SCIENCES
MEDICAL AND HEAL ...
and Clinical Medicin ...
and Endocrinology an ...
MEDICAL AND HEALTH SCIENCES
MEDICAL AND HEAL ...
and Basic Medicine
and Medical Genetics
Articles in the publication
Nature Genetics
By the university
Lund University
Uppsala University
Karolinska Institutet

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