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Haplotype structure...
Haplotype structures and large-scale association testing of the 5 ' AMP-activated protein kinase genes PRK4A2, PRKAB1, and PRK4B1 with type 2 diabetes
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Sun, MW (author)
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Lee, JY (author)
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de Bakker, PIW (author)
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Burtt, NP (author)
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- Almgren, Peter (author)
- Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups
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- Råstam, Lennart (author)
- Lund University,Lunds universitet,Samhällsmedicin,Forskargrupper vid Lunds universitet,Community Medicine,Lund University Research Groups
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Tuomi, T (author)
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Gaudet, D (author)
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Daly, MJ (author)
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Hirschhorn, JN (author)
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Altshuler, D (author)
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Groop, L (author)
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Florez, JC (author)
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(creator_code:org_t)
- American Diabetes Association, 2006
- 2006
- English.
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In: Diabetes. - : American Diabetes Association. - 1939-327X .- 0012-1797. ; 55:3, s. 849-855
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Abstract
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- AMP-activated protein kinase (AMPK) is a key molecular regulator of cellular metabolism, and its activity is induced by both metformin and thiazolidinedione antidiabetic medications. It has therefore been proposed both as a putative agent in the pathophysiology of type 2 diabetes and as a valid target for therapeutic intervention. Thus, the genes that encode the various AMPK subunits are intriguing candidates for the inherited basis of type 2 diabetes. We therefore set out to test for the association of common variants in the genes that encode three selected AMPK subunits with type 2 diabetes and related phenotypes. Of the seven genes that encode AMPK isoforms, we initially chose PRKAA2, PRKAB1, and PRKAB2 because of their higher prior probability of association with type 2 diabetes, based on previous reports of genetic linkage, functional molecular studies, expression patterns, and pharmacological evidence. We determined their haplotype structure, selected a subset of tag single nucleotide polymorphisms that comprehensively capture the extent of common genetic variation in these genes, and genotyped them in family-based and case/control samples comprising 4,206 individuals. Analysis of single-marker and multi-marker tests revealed no association with type 2 diabetes, fasting plasma glucose, or insulin sensitivity. Several nominal associations of variants in PRKAA2 and PRKAB1 with BMI appear to be consistent with statistical noise.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
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- art (subject category)
- ref (subject category)
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Diabetes
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- By the author/editor
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Sun, MW
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Lee, JY
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de Bakker, PIW
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Burtt, NP
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Almgren, Peter
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Råstam, Lennart
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show more...
-
Tuomi, T
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Gaudet, D
-
Daly, MJ
-
Hirschhorn, JN
-
Altshuler, D
-
Groop, L
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Florez, JC
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Endocrinology an ...
- Articles in the publication
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Diabetes
- By the university
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Lund University