Identification of two novel missense mutations in the human OB gene

S M Echwald; S B Rasmussen; T I Sørensen; T Andersen; A Tybjaerg-Hansen; J O Clausen; L Hansen; T Hansen; O Pedersen

doi:10.1038/sj.ijo.0800408

Identification of two novel missense mutations in the human OB gene

S M Echwald, S B Rasmussen, T I Sørensen, T Andersen, A Tybjaerg-Hansen, J O Clausen, L Hansen, T Hansen, O Pedersen

37 Citations (Scopus)

Abstract

OBJECTIVE: To clone the human OB gene and to investigate if mutations in the OB gene are related to juvenile onset obesity in Caucasians.

DESIGN: Case-cohort study with mutational scanning of the OB gene in an obese cohort and in a population sample of young Caucasians.

SUBJECTS: An obese cohort of 156 subjects with juvenile onset obesity and a population sample of 380 healthy young Caucasians.

MEASUREMENTS: Various anthropometric and biochemical measures of obesity and insulin sensitivity and single strand conformation polymorphism scanning and nucleotide sequencing.

RESULTS: Analysis of the coding region of the OB gene in the 536 participants revealed that one obese subject was heterozygous for a mutation at codon Phe17Leu and one normal weight subject was heterozygous for a mutation at codon Val110Met. The phenotypes of the carriers were not different from matched non-mutation carrying subjects.

CONCLUSIONS: Mutations exist in the OB gene among obese as well as lean subjects although they are rare. However, it is unlikely that mutations in the coding region of the OB gene are a common cause of juvenile onset obesity among Caucasians.

Original language	English
Journal	International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity
Volume	21
Issue number	4
Pages (from-to)	321-6
Number of pages	6
DOIs	https://doi.org/10.1038/sj.ijo.0800408
Publication status	Published - Apr 1997
Externally published	Yes

Keywords

Adult
Autoradiography
Base Sequence
Cloning, Molecular
Cohort Studies
DNA Primers/chemistry
Humans
Leptin
Male
Mutation/genetics
Obesity/blood
Phenotype
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Proteins/analysis
Reference Values
Sequence Analysis, DNA
White People

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10.1038/sj.ijo.0800408

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Echwald, S. M., Rasmussen, S. B., Sørensen, T. I., Andersen, T., Tybjaerg-Hansen, A., Clausen, J. O., Hansen, L., Hansen, T., & Pedersen, O. (1997). Identification of two novel missense mutations in the human OB gene. International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity, 21(4), 321-6. https://doi.org/10.1038/sj.ijo.0800408

Identification of two novel missense mutations in the human OB gene. / Echwald, S M; Rasmussen, S B; Sørensen, T I et al.
In: International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity, Vol. 21, No. 4, 04.1997, p. 321-6.

Research output: Contribution to journal › Journal article › Research › peer-review

Echwald, SM, Rasmussen, SB, Sørensen, TI, Andersen, T, Tybjaerg-Hansen, A, Clausen, JO, Hansen, L, Hansen, T & Pedersen, O 1997, 'Identification of two novel missense mutations in the human OB gene', International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity, vol. 21, no. 4, pp. 321-6. https://doi.org/10.1038/sj.ijo.0800408

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abstract = "OBJECTIVE: To clone the human OB gene and to investigate if mutations in the OB gene are related to juvenile onset obesity in Caucasians.DESIGN: Case-cohort study with mutational scanning of the OB gene in an obese cohort and in a population sample of young Caucasians.SUBJECTS: An obese cohort of 156 subjects with juvenile onset obesity and a population sample of 380 healthy young Caucasians.MEASUREMENTS: Various anthropometric and biochemical measures of obesity and insulin sensitivity and single strand conformation polymorphism scanning and nucleotide sequencing.RESULTS: Analysis of the coding region of the OB gene in the 536 participants revealed that one obese subject was heterozygous for a mutation at codon Phe17Leu and one normal weight subject was heterozygous for a mutation at codon Val110Met. The phenotypes of the carriers were not different from matched non-mutation carrying subjects.CONCLUSIONS: Mutations exist in the OB gene among obese as well as lean subjects although they are rare. However, it is unlikely that mutations in the coding region of the OB gene are a common cause of juvenile onset obesity among Caucasians.",

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doi = "10.1038/sj.ijo.0800408",

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AU - Echwald, S M

AU - Rasmussen, S B

AU - Sørensen, T I

AU - Andersen, T

AU - Tybjaerg-Hansen, A

AU - Clausen, J O

AU - Hansen, L

AU - Hansen, T

AU - Pedersen, O

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N2 - OBJECTIVE: To clone the human OB gene and to investigate if mutations in the OB gene are related to juvenile onset obesity in Caucasians.DESIGN: Case-cohort study with mutational scanning of the OB gene in an obese cohort and in a population sample of young Caucasians.SUBJECTS: An obese cohort of 156 subjects with juvenile onset obesity and a population sample of 380 healthy young Caucasians.MEASUREMENTS: Various anthropometric and biochemical measures of obesity and insulin sensitivity and single strand conformation polymorphism scanning and nucleotide sequencing.RESULTS: Analysis of the coding region of the OB gene in the 536 participants revealed that one obese subject was heterozygous for a mutation at codon Phe17Leu and one normal weight subject was heterozygous for a mutation at codon Val110Met. The phenotypes of the carriers were not different from matched non-mutation carrying subjects.CONCLUSIONS: Mutations exist in the OB gene among obese as well as lean subjects although they are rare. However, it is unlikely that mutations in the coding region of the OB gene are a common cause of juvenile onset obesity among Caucasians.

AB - OBJECTIVE: To clone the human OB gene and to investigate if mutations in the OB gene are related to juvenile onset obesity in Caucasians.DESIGN: Case-cohort study with mutational scanning of the OB gene in an obese cohort and in a population sample of young Caucasians.SUBJECTS: An obese cohort of 156 subjects with juvenile onset obesity and a population sample of 380 healthy young Caucasians.MEASUREMENTS: Various anthropometric and biochemical measures of obesity and insulin sensitivity and single strand conformation polymorphism scanning and nucleotide sequencing.RESULTS: Analysis of the coding region of the OB gene in the 536 participants revealed that one obese subject was heterozygous for a mutation at codon Phe17Leu and one normal weight subject was heterozygous for a mutation at codon Val110Met. The phenotypes of the carriers were not different from matched non-mutation carrying subjects.CONCLUSIONS: Mutations exist in the OB gene among obese as well as lean subjects although they are rare. However, it is unlikely that mutations in the coding region of the OB gene are a common cause of juvenile onset obesity among Caucasians.

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KW - Leptin

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KW - Obesity/blood

KW - Phenotype

KW - Polymerase Chain Reaction

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KW - Proteins/analysis

KW - Reference Values

KW - Sequence Analysis, DNA

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JF - International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity

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ER -

Identification of two novel missense mutations in the human OB gene

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