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Ghrelin Receptor Gene: Identification of Several Sequence Variants in Extremely Obese Children and Adolescents, Healthy Normal-Weight and Underweight Students, and Children with Short Normal Stature
- Source :
- J. Clin. Endocrinol. Metab. 89, 157-162 (2004)
- Publication Year :
- 2004
- Publisher :
- The Endocrine Society, 2004.
-
Abstract
- GH secretagogue receptor (GHSR, ghrelin receptor) is involved in regulation of body weight and GH secretion. We initially analyzed two single-nucleotide polymorphisms of the GHSR in up to 184 extremely obese children and adolescents and up to 184 healthy underweight students. The frequency of the 171T allele of rs495225 was higher in our obese samples (75.0%) than in the underweight individuals (70.2%; nominal P = 0.14). This trend could not be substantiated in an additional association study in 270 obese and 145 underweight and normal weight individuals and in a transmission disequilibrium test based on 387 obesity trios (transmission rate of 171T, 51.8%; nominal P = 0.53). Additionally, the coding region of GHSR was systematically screened, and seven sequence variants were identified in 93 obese, 96 normal weight, and 94 underweight individuals and 43 children with short normal stature (SNS). Five silent single-nucleotide polymorphisms showed similar genotype frequencies in the different weight groups and SNS children (all nominal P > 0.3). Two novel missense variants were detected only in one obese carrier and one SNS child, respectively. In conclusion, we did not obtain conclusive evidence for an involvement of the ghrelin receptor gene in body weight regulation or SNS in our study groups.
- Subjects :
- Adult
Male
medicine.medical_specialty
Adolescent
Genotype
Endocrinology, Diabetes and Metabolism
Clinical Biochemistry
Medizin
Mutation, Missense
Single-nucleotide polymorphism
Biology
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Biochemistry
Receptors, G-Protein-Coupled
Endocrinology
Gene Frequency
Internal medicine
medicine
Humans
Obesity
Child
Receptors, Ghrelin
Students
Allele frequency
Alleles
Polymorphism, Single-Stranded Conformational
Body Weight
Biochemistry (medical)
Transmission disequilibrium test
medicine.disease
Body Height
Growth hormone secretion
Genotype frequency
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
Female
Ghrelin
Underweight
medicine.symptom
Polymorphism, Restriction Fragment Length
Subjects
Details
- ISSN :
- 19457197 and 0021972X
- Volume :
- 89
- Database :
- OpenAIRE
- Journal :
- The Journal of Clinical Endocrinology & Metabolism
- Accession number :
- edsair.doi.dedup.....791695523d91fc6b93a670e01eae598e