Associations between anthropometrical measurements, body composition, single-nucleotide polymorphisms of the hypothalamus/pituitary/adrenal (HPA) axis and HPA axis functioning

Rutters, Femke; Nieuwenhuizen, Arie G.; Lemmens, Sofie G T; Bouwman, Freek G.; Mariman, E.C.M.; Westerterp-Plantenga, Margriet S.

doi:10.1111/j.1365-2265.2011.03985.x

Cited by 11 publications

(7 citation statements)

References 27 publications

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“…No SNPs in the FKBP5 gene were included in this initial candidate gene study. Further, although no SNPs in POMC gene were associated with HPA measures in our study, a small study in women found an association with the rs1042571 CC genotype in the POMC gene and higher cortisol levels [24]. This POMC SNP was not included in our study, but is in moderately high LD with rs934778 (R 2 = 0.59), which was not associated with any HPA measures directly in our study, but there was limited evidence of an interaction between this SNP and birthweight (p-value = 0.014).…”

Section: Discussioncontrasting

confidence: 90%

“…Cortisol concentrations have been evaluated most frequently and polymorphisms in genes including the FK506 binding protein ( FKBP5 ) [23], glucocorticoid receptor ( NR3C1 ) [24], mineralcorticoid receptor ( NR3C2 ) and pro-opiomelanocortin ( POMC ) [24] have been associated with cortisol levels in adults. Haplotypes of the glucocorticoid receptor have been found to modify the association between birth length and fasting plasma cortisol in older adults [25].…”

Section: Introductionmentioning

confidence: 99%

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Investigation of Genetic Variants, Birthweight and Hypothalamic-Pituitary-Adrenal Axis Function Suggests a Genetic Variant in the SERPINA6 Gene Is Associated with Corticosteroid Binding Globulin in the Western Australia Pregnancy Cohort (Raine) Study

et al. 2014

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BackgroundThe hypothalamic-pituitary-adrenal (HPA) axis regulates stress responses and HPA dysfunction has been associated with several chronic diseases. Low birthweight may be associated with HPA dysfunction in later life, yet human studies are inconclusive. The primary study aim was to identify genetic variants associated with HPA axis function. A secondary aim was to evaluate if these variants modify the association between birthweight and HPA axis function in adolescents.MethodsMorning fasted blood samples were collected from children of the Western Australia Pregnancy Cohort (Raine) at age 17 (n = 1077). Basal HPA axis function was assessed by total cortisol, corticosteroid binding globulin (CBG), and adrenocorticotropic hormone (ACTH). The associations between 124 tag single nucleotide polymorphisms (SNPs) within 16 HPA pathway candidate genes and each hormone were evaluated using multivariate linear regression and penalized linear regression analysis using the HyperLasso method.ResultsThe penalized regression analysis revealed one candidate gene SNP, rs11621961 in the CBG encoding gene (SERPINA6), significantly associated with total cortisol and CBG. No other candidate gene SNPs were significant after applying the penalty or adjusting for multiple comparisons; however, several SNPs approached significance. For example, rs907621 (p = 0.002) and rs3846326 (p = 0.003) in the mineralocorticoid receptor gene (NR3C2) were associated with ACTH and SERPINA6 SNPs rs941601 (p = 0.004) and rs11622665 (p = 0.008), were associated with CBG. To further investigate our findings for SERPINA6, rare and common SNPs in the gene were imputed from the 1,000 genomes data and 8 SNPs across the gene were significantly associated with CBG levels after adjustment for multiple comparisons. Birthweight was not associated with any HPA outcome, and none of the gene-birthweight interactions were significant after adjustment for multiple comparisons.ConclusionsOur study suggests that genetic variation in the SERPINA6 gene may be associated with altered CBG levels during adolescence. Replication of these findings is required.

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Section: Discussioncontrasting

confidence: 90%

Section: Introductionmentioning

confidence: 99%

Investigation of Genetic Variants, Birthweight and Hypothalamic-Pituitary-Adrenal Axis Function Suggests a Genetic Variant in the SERPINA6 Gene Is Associated with Corticosteroid Binding Globulin in the Western Australia Pregnancy Cohort (Raine) Study

et al. 2014

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“…27 In addition, it has been shown that activation of the HPA axis is associated with visceral adiposity observed with a high WHR in women. 28 WHHR remained a significant predictor of CVD risk after adjustment for established risk factors in men and women in the cohort of 60-year-old men and women, whereas significance was only seen in men in the MDC-CC. This may be partly explained by the necessary age adjustments in the latter study, and may also explain why several measures were significant after adjustments for established CVD risk factors in men in the Stockholm cohort in contrast to findings from the Emerging Risk Factors Collaboration with pooled data from 58 cohorts.…”

Section: Potential Mechanismsmentioning

confidence: 83%

Novel and established anthropometric measures and the prediction of incident cardiovascular disease: a cohort study

et al. 2013

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“…In addition, the intronic SNP rs6713532 was marginally associated with AD or CD in EAs, and SNP rs6719226 in the 5′ flanking region was associated with OD in AAs (Zhang et al 2009). In another study, SNP rs1042571 in the 3′ UTR was associated with higher cortisol exposure and reduced negative feedback of the HPA axis, in a nonchallenged condition, in women (Rutters et al 2011). …”

Section: The Proopiomelanocortin Gene (Pomc)mentioning

confidence: 95%

The genetics of the opioid system and specific drug addictions

2012

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Addiction to drugs is a chronic, relapsing brain disease that has major medical, social, and economic complications. It has been established that genetic factors contribute to the vulnerability to develop drug addiction and to the effectiveness of its treatment. Identification of these factors may increase our understanding of the disorders, help in the development of new treatments and advance personalized medicine. In this review we will describe the genetics of the major genes of the opioid system (opioid receptors and their endogenous ligands) in connection to addiction to opioids, cocaine, alcohol and methamphetamines. Particular emphasis is given to association and functional studies of specific variants. We will provide information on the sample populations and the size of each study, as well as a list of the variants implicated in association with addiction-related phenotypes, and with the effectiveness of pharmacotherapy for addiction.

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Associations between anthropometrical measurements, body composition, single-nucleotide polymorphisms of the hypothalamus/pituitary/adrenal (HPA) axis and HPA axis functioning

Abstract: Our preliminary data show that in both men and women (18-55 years, BMI 19-41 kg/m(2) ), the SNP's BclI and C8246T of the HPA axis were primarily related to altered HPA axis functioning, rather than to altered anthropometric measurements and body composition.

Cited by 11 publications

References 27 publications

Investigation of Genetic Variants, Birthweight and Hypothalamic-Pituitary-Adrenal Axis Function Suggests a Genetic Variant in the SERPINA6 Gene Is Associated with Corticosteroid Binding Globulin in the Western Australia Pregnancy Cohort (Raine) Study

Investigation of Genetic Variants, Birthweight and Hypothalamic-Pituitary-Adrenal Axis Function Suggests a Genetic Variant in the SERPINA6 Gene Is Associated with Corticosteroid Binding Globulin in the Western Australia Pregnancy Cohort (Raine) Study

Novel and established anthropometric measures and the prediction of incident cardiovascular disease: a cohort study

The genetics of the opioid system and specific drug addictions

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