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Melanocortin 4 rece...
Melanocortin 4 receptor sequence variations are seldom a cause of human obesity: the Swedish Obese Subjects, the HERITAGE Family Study, and a Memphis cohort.
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- Jacobson, Peter, 1962 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för invärtesmedicin,Institute of Internal Medicine
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Ukkola, Olavi (author)
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Rankinen, Tuomo (author)
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Snyder, Eric E (author)
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Leon, Arthur S (author)
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Rao, D C (author)
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Skinner, James S (author)
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Wilmore, Jack H (author)
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- Lönn, Lars, 1956 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för särskilda specialiteter, Avdelningen för radiologi,Institutionen för invärtesmedicin, Avdelningen för kroppssammansättning och metabolism,Institute of Selected Clinical Sciences, Department of Radiology,Institute of Internal Medicine, Dept of Body Composition and Metabolism
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Cowan, George S (author)
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- Sjöström, Lars (author)
- Gothenburg University,Göteborgs universitet,Institutionen för invärtesmedicin, Avdelningen för kroppssammansättning och metabolism,Institute of Internal Medicine, Dept of Body Composition and Metabolism
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Bouchard, Claude (author)
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(creator_code:org_t)
- 2002
- 2002
- English.
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In: The Journal of clinical endocrinology and metabolism. - 0021-972X. ; 87:10, s. 4442-6
- Related links:
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https://gup.ub.gu.se...
Abstract
Subject headings
Close
- The prevalence of mutations within and in the flanking regions of the gene encoding the melanocortin 4 receptor was investigated in severely obese and normal-weight subjects from the Swedish Obese Subjects study, the Health, Risk Factors, Exercise Training, and Genetics (HERITAGE) Family study, and a Memphis cohort. A total of 433 white and 95 black subjects (94% females) were screened for mutations by direct sequencing. Three previously described missense variants and nine novel (three missense, six silent) variants were detected. None of them showed significant association with obesity or related phenotypes. In addition, two novel deletions were found in two heterozygous obese women: a -65_-64delTG mutation within the 5' noncoding region and a 171delC frameshift mutation predicted to result in a truncated nonfunctional receptor. No pathogenic mutations were found among obese blacks or nonobese controls. Furthermore, none of the null mutations found in other populations was present in this sample. In conclusion, our results do not support the prevailing notion that sequence variation in the melanocortin 4 receptor gene is a frequent cause of human obesity.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- 5' Untranslated Regions
- Adult
- African Continental Ancestry Group
- Amino Acid Sequence
- Base Sequence
- Cohort Studies
- DNA Mutational Analysis
- European Continental Ancestry Group
- Female
- Gene Deletion
- Heterozygote
- Humans
- Middle Aged
- Mutation
- Mutation
- Missense
- Obesity
- genetics
- Phenotype
- Polymerase Chain Reaction
- Receptor
- Melanocortin
- Type 4
- Receptors
- Corticotropin
- genetics
- Sequence Analysis
- DNA
- Sweden
- Tennessee
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Jacobson, Peter, ...
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Ukkola, Olavi
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Rankinen, Tuomo
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Snyder, Eric E
-
Leon, Arthur S
-
Rao, D C
-
show more...
-
Skinner, James S
-
Wilmore, Jack H
-
Lönn, Lars, 1956
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Cowan, George S
-
Sjöström, Lars
-
Bouchard, Claude
-
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 Basic Medicine
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and Medical Genetics
- Articles in the publication
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The Journal of c ...
- By the university
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University of Gothenburg