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Titolo:
Polymorphism in the 5 '-leader cistron of the beta(2)-adrenergic receptor gene associated with obesity and type 2 diabetes
Autore:
Yamada, K; Ishiyama-Shigemoto, S; Ichikawa, F; Yuan, XH; Koyanagi, A; Koyama, W; Nonaka, K;
Indirizzi:
Kurume0011,, Sch Med, Dept Med, Div Endocrinol & Metab, Kurume, Fukuoka 830 Kurume Univ Kurume Fukuoka Japan 8300011 nol & Metab, Kurume, Fukuoka 830 Kumamoto Red Cross Hlth Care Ctr, Kumamoto 8620932, Japan Kumamoto Red Cross Hlth Care Ctr Kumamoto Japan 8620932 o 8620932, Japan
Titolo Testata:
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
fascicolo: 5, volume: 84, anno: 1999,
pagine: 1754 - 1757
SICI:
0021-972X(199905)84:5<1754:PIT5'C>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
BODY-MASS INDEX; BETA(3)-ADRENERGIC RECEPTOR; ADRENERGIC-RECEPTOR; BETA-2-ADRENERGIC RECEPTOR; METAANALYSIS; MUTATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
13
Recensione:
Indirizzi per estratti:
Indirizzo: Yamada, K Kurumeme,iv, Sch Med, Dept Med, Div Endocrinol & Metab, 67 Asahimachi, Kuru Kurume Univ 67 Asahimachi Kurume Fukuoka Japan 8300011 chi, Kuru
Citazione:
K. Yamada et al., "Polymorphism in the 5 '-leader cistron of the beta(2)-adrenergic receptor gene associated with obesity and type 2 diabetes", J CLIN END, 84(5), 1999, pp. 1754-1757

Abstract

We screened the 5'-untranslated region of the beta(2)-adrenergic receptor gene from 40 obese subjects by the PCR-direct sequencing technique. Two polymorphic sites were identified; a T-->C substitution at -47 and a T-->C substitution at -20. We further analyzed the association of the polymorphisms with obesity in 574 subjects by PCR and restriction digestion. The substitution at -47 was in tight linkage disequilibrium with that at -20. The polymorphisms were also in linkage disequilibrium with codon 16 and codon 27 polymorphisms. Subjects carrying the -47C/-20C allele had greater body mass index (25.5+/-4.5 vs. 24.4+/-4.1 kg/m(2), p=0.007) and higher serum triglyceride levels (166+/-160 vs. 139+/-95 mg/dl, p=0.015) than -47T/-20T homozygotes. The variant allele frequency was significantly higher in obese subjectsthan in non-obese subjects (0.18 vs. 0.11, p=0.0026). Furthermore, an increased frequency of the variant allele was shown in diabetic patients compared with non-diabetic subjects (0.19 vs. 0.11, p=0.0005). The association may be attributable to the greater proportion of diabetic patients in the obese group. The exchange at -47 may alter the expression level of the pz-adrenergic receptor gene, because the nucleotide substitution at -47 results ina Cys-->Arg exchange at the C terminal of the leader peptide. The -47C/-20C allele may be associated with genetic predisposition to obesity and obesity-related metabolic disorders.

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Documento generato il 20/09/20 alle ore 09:36:17