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Vol 5, No 6 (2016)
Original articles (submitted)
Published online: 2017-03-31
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Lack of association of the HSD11B1 gene polymorphisms with obesity and other traits of metabolic syndrome in children and adolescents

Marta Fichna, Izabela Krzyśko-Pieczka, Magdalena Żurawek, Bogda Skowrońska, Anna Gertig-Kolasa, Piotr Fichna
DOI: 10.5603/DK.2016.0031
·
Clinical Diabetology 2016;5(6):178-184.

open access

Vol 5, No 6 (2016)
Original articles (submitted)
Published online: 2017-03-31

Abstract

Introduction. Obesity and its related disorders, clustered into metabolic syndrome (MetS), are increasingly diagnosed in children and adolescents. Clinical features, which define MetS are also encountered in patients with glucocorticoid excess. Since no evident hypercortisolaemia was detected in obesity and MetS, investigations turned to the local modulators of cortisol action. 11b-hydroxysteroid dehydrogenase type 1, encoded by HSD11B1 gene, controls tissue availability of cortisol by its regeneration from inert cortisone. Changes in HSD11B1 expression and enzyme activity may be influenced by its sequence variants and seem implicated in MetS pathogenesis. Our study was designed to evaluate plausible association of the HSD11B1 polymorphisms with early-onset obesity and features of MetS in Polish children and adolescents.

Material and methods. The study comprised of 258 obese children (136 females), aged 12.3 ± 3.6 years, with excessive body mass lasting 7.1 ± 3.8 years. Anthropometric and blood pressure measurements, baseline biochemical analyses and oral glucose tolerance test were performed in all participants. Genotyp­ing of the HSD11B1 variants rs12086634, rs846910, rs4844880, and rs3753519 was conducted in obese youth and compared with 568 lean blood donors.

Results. Mean relative body mass index in obese cohort was 164.7 ± 27.1%. Hypertension was detected in 12.4%, impaired fasting glucose in 8.9%, impaired glucose tolerance in 10.8%, diabetes in 2.7%, and dyslipidemia in 31.4% children and adolescents. None of the studied HSD11B1 polymorphisms displayed significant difference in frequency between obese and lean individuals. MetS was diagnosed in 27.6% of 203 patients with obesity aged 10–18 years. Further genotype-stratified analyses of relationship between HSD11B1 variants and particular features of MetS did not confirm increased susceptibility to develop early-onset hyperglycaemia, dyslipidaemia and hypertension in carriers of specific genotypes at rs4844880, rs846910, rs3753519, and rs12086634 (p ≥ 0.05 in all tests).

Conclusion. Our study does not support the implication of the HSD11B1 polymorphisms in early-onset obesity and other features of MetS.

Abstract

Introduction. Obesity and its related disorders, clustered into metabolic syndrome (MetS), are increasingly diagnosed in children and adolescents. Clinical features, which define MetS are also encountered in patients with glucocorticoid excess. Since no evident hypercortisolaemia was detected in obesity and MetS, investigations turned to the local modulators of cortisol action. 11b-hydroxysteroid dehydrogenase type 1, encoded by HSD11B1 gene, controls tissue availability of cortisol by its regeneration from inert cortisone. Changes in HSD11B1 expression and enzyme activity may be influenced by its sequence variants and seem implicated in MetS pathogenesis. Our study was designed to evaluate plausible association of the HSD11B1 polymorphisms with early-onset obesity and features of MetS in Polish children and adolescents.

Material and methods. The study comprised of 258 obese children (136 females), aged 12.3 ± 3.6 years, with excessive body mass lasting 7.1 ± 3.8 years. Anthropometric and blood pressure measurements, baseline biochemical analyses and oral glucose tolerance test were performed in all participants. Genotyp­ing of the HSD11B1 variants rs12086634, rs846910, rs4844880, and rs3753519 was conducted in obese youth and compared with 568 lean blood donors.

Results. Mean relative body mass index in obese cohort was 164.7 ± 27.1%. Hypertension was detected in 12.4%, impaired fasting glucose in 8.9%, impaired glucose tolerance in 10.8%, diabetes in 2.7%, and dyslipidemia in 31.4% children and adolescents. None of the studied HSD11B1 polymorphisms displayed significant difference in frequency between obese and lean individuals. MetS was diagnosed in 27.6% of 203 patients with obesity aged 10–18 years. Further genotype-stratified analyses of relationship between HSD11B1 variants and particular features of MetS did not confirm increased susceptibility to develop early-onset hyperglycaemia, dyslipidaemia and hypertension in carriers of specific genotypes at rs4844880, rs846910, rs3753519, and rs12086634 (p ≥ 0.05 in all tests).

Conclusion. Our study does not support the implication of the HSD11B1 polymorphisms in early-onset obesity and other features of MetS.

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Keywords

childhood obesity, HSD11B1 gene, polymorphism, cortisol, metabolic syndrome

About this article
Title

Lack of association of the HSD11B1 gene polymorphisms with obesity and other traits of metabolic syndrome in children and adolescents

Journal

Clinical Diabetology

Issue

Vol 5, No 6 (2016)

Pages

178-184

Published online

2017-03-31

DOI

10.5603/DK.2016.0031

Bibliographic record

Clinical Diabetology 2016;5(6):178-184.

Keywords

childhood obesity
HSD11B1 gene
polymorphism
cortisol
metabolic syndrome

Authors

Marta Fichna
Izabela Krzyśko-Pieczka
Magdalena Żurawek
Bogda Skowrońska
Anna Gertig-Kolasa
Piotr Fichna

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