Gender-dependent association of HSD11B1 single nucleotide polymorphisms with glucose and HDL-C levels

Turek, Luciane Viater; Leite, Neiva; Souza, Ricardo Lehtonen Rodrigues de; Lima, Jovana Karoline; Milano, Gerusa Eisfeld; Timossi, Luciana da Silva; Osiecki, Ana Claudia Vecchi; Osiecki, Raúl; Alle, Lupe Furtado

doi:10.1590/s1415-47572014000400003

Cited by 18 publications

(19 citation statements)

References 42 publications

(43 reference statements)

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“…In our study we restricted our analysis to obese women. Specific metabolic conditions associated with obesity and the influence of sex hormones, especially estrogen, on the lipid profile (Bataille et al ., 2005), can modulate the genetic polymorphisms' effect differently, as observed in previous studies (Ordovas, 2008; Tureck et al ., 2014; Locke,2015). …”

Section: Discussionsupporting

confidence: 55%

Effect of BCHE single nucleotide polymorphisms on lipid metabolism markers in women

et al. 2017

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Butyrylcholinesterase (BChE) activity and polymorphisms in its encoding gene had previously been associated with metabolic traits of obesity. This study investigated the association of three single nucleotide polymorphisms (SNPs) in the BCHE gene: -116G > A (rs1126680), 1615GA (rs1803274), 1914A < G (rs3495), with obesity and lipid metabolism markers, body mass index (BMI), total cholesterol (TC), low density lipoprotein cholesterol (LDL-C), high density lipoprotein cholesterol (HDL-C), triglyceride (TG) levels, and BChE enzymatic activity in obese (BMI≥30/n = 226) and non-obese women (BMI < 25/n = 81). BCHE SNPs genotyping was obtained by TaqMan allelic discrimination assay and by RFLP-PCR. Plasmatic BChE activity was measured using propionylthiocholine as substrate. Similar allele frequencies were found in obese and non-obese women for the three studied SNPs (p > 0.05). The dominant and recessive models were tested, and different effects were found. The -116A allele showed a dominant effect in BChE activity reduction in both non-obese and obese women (p = 0.045 and p < 0.001, respectively). The 1914A > G and 1615GA SNPs influenced the TG levels only in obese women. The 1914G and the 1615A alleles were associated with decreased plasma levels of TG. Thus, our results suggest that the obesity condition, characterized by loss of energy homeostasis, is modulated by BCHE polymorphisms.

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Section: Discussionsupporting

confidence: 55%

Effect of BCHE single nucleotide polymorphisms on lipid metabolism markers in women

et al. 2017

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“…On the basis of titles and abstracts, we selected 71 studies for full-text examination, of which 32 fulfilled the final inclusion criteria. Studies were grouped according to the relationship they set out to assess: 1) HSD11B1 gene expression in subcutaneous/visceral abdominal fat and MetS [ 6 - 8 ]; 2) HSD11B1 gene expression in subcutaneous/visceral abdominal fat and hyperglycemia [ 6 , 8 - 14 ]; 3) HSD11B1 gene expression in subcutaneous/visceral abdominal fat and obesity [ 4 , 6 - 11 , 13 , 15 - 28 ]; 4) HSD11B1 polymorphisms and obesity, MetS, or T2DM [ 29 - 37 ]. The main results of these studies are presented in Tables 1 , 2 , 3 and 4 .…”

Section: Resultsmentioning

confidence: 99%

Association of HSD11B1 polymorphic variants and adipose tissue gene expression with metabolic syndrome, obesity and type 2 diabetes mellitus: a systematic review

Nascimento

Piccoli

Beer

et al. 2015

Diabetol Metab Syndr

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The HSD11B1 gene is highly expressed in abdominal adipose tissue, and the enzyme it encodes catalyzes the interconversion of inactive cortisone to hormonally active cortisol. Genetic abnormalities of HSD11B1 have been associated with the development of abnormal glucose metabolism and body fat distribution. To systematically review studies evaluating the association of HSD11B1 gene expression in abdominal adipose tissue and HSD11B1 polymorphisms with obesity, the metabolic syndrome (MetS), and type 2 diabetes (T2DM), we conducted a search in MEDLINE, SCOPUS, and Cochrane Library databases in April 2015. The inclusion criteria were observational studies (cross-sectional, cohort, or case–control), conducted in adults, which analyzed the relationship of HSD11B1 polymorphisms and/or HSD11B1 expression in abdominal adipose tissue with obesity, MetS, or T2DM. Of 802 studies retrieved, 32 met the inclusion criteria (23 gene expression and 9 polymorphism studies). Twenty one studies analyzed the relationship between abdominal subcutaneous and/or visceral HSD11B1 expression with central and/or generalized obesity. Most studies reported that abdominal adipose HSD11B1 expression increased with increasing body mass index (15 studies) and abnormalities of glucose metabolism (7 studies), and varied with the presence of MetS (3 studies). Nine studies analyzed the association of 26 different HSD11B1 polymorphic variants with obesity, MetS, and T2DM. Only an Indian study found an association between a polymorphic variant at the HSD11B1 gene with MetS whereas in Pima Indians another polymorphic variant was found to be associated with T2DM. While the literature suggests that HSD11B1 is hyperexpressed in abdominal adipose tissue in subjects with obesity and abnormal glucose metabolism, this seems to be not true for HSD11B1 gene expression and MetS. Although an association of polymorphic variants of HSD11B1 with MetS in Indians and in the T2DM population of Pima Indians were found, most studies did not find a relationship between genetic polymorphic variants of HSD11B1 and obesity, MetS, and T2DM. Their reported conflicting and inconclusive results, suggesting that polymorphic variants of HSD11B1 may have only a small role in the development of metabolic abnormalities of susceptible populations in the development of MetS and T2DM.

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“…In Europeans, association with MetS was found in Italian women, while a small study in Bosnians revealed correlations with BP, HOMA-IR and LDL cholesterol values [15,32]. Moreover, HSD11B1 gene appeared to influence glucose and HDL cholesterol level in Brazilian females of European descent [33]. Although data from adults do not confirm direct effect of HSD11B1 polymorphisms on body mass, an association with obesity and its measures (BMI, WC, waist-to-hip ratio) was reported in Spanish, American and Chinese children [20,21,23].…”

Section: Discussionmentioning

confidence: 93%

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

Fichna

Krzyśko-Pieczka²,

Żurawek

et al. 2017

Clinical Diabetology

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Gender-dependent association of HSD11B1 single nucleotide polymorphisms with glucose and HDL-C levels

Cited by 18 publications

References 42 publications

Effect of BCHE single nucleotide polymorphisms on lipid metabolism markers in women

Effect of BCHE single nucleotide polymorphisms on lipid metabolism markers in women

Association of HSD11B1 polymorphic variants and adipose tissue gene expression with metabolic syndrome, obesity and type 2 diabetes mellitus: a systematic review

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

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