A single nucleotide polymorphism in the corticotropin receptor gene is associated with a blunted cortisol response during pediatric critical illness

Pediatric Critical Care Medicine

Volumn 15, Issue 8, 2014, Pages 698-705

  Jardine, David ^a   Emond, Mary ^a   Meert, Kathleen L ^b   Harrison, Rick ^c   Carcillo, Joseph A ^d   Anand, Kanwaljeet J S ^e   Berger, John ^f   Newth, Christopher J L ^g   Willson, Douglas F ^h   Nicholson, Carol ⁱ   Dean, J Michael ^j   Zimmerman, Jerry J ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b CHILDREN'S HOSPITAL OF MICHIGAN   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^e UNIVERSITY OF TENNESSEE   (United States)

^f CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^g CHILDREN S HOSPITAL LOS ANGELES   (United States)

^h UNIVERSITY OF VIRGINIA CHILDREN S HOSPITAL   (United States)

ⁱ EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^j UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

more..

Author keywords

Acth) receptor; Adrenocorticotropin hormone (corticotropin; Critical illness; Pediatric risk of mortality iii; Serum free cortisol; Single nucleotide polymorphism; Single nucleotide variant; Stress response

Indexed keywords

CORTICOTROPIN RECEPTOR; HYDROCORTISONE; CORTICOSTEROID; DNA; MELANOCORTIN 2 RECEPTOR; MINERALOCORTICOID RECEPTOR; NR3C2 PROTEIN, HUMAN; TUMOR NECROSIS FACTOR ALPHA;

ADULT; ALLELE; ARTICLE; BLOOD SAMPLING; CHILD; CHILDHOOD MORTALITY; CRITICAL ILLNESS; CRITICALLY ILL PATIENT; DISEASE SEVERITY; DNA ISOLATION; FEMALE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DIFFERENCE; GENETIC VARIABILITY; GENOTYPE; GESTATIONAL AGE; HORMONE ACTION; HORMONE METABOLISM; HORMONE RESPONSE; HORMONE SYNTHESIS; HUMAN; HYDROCORTISONE BLOOD LEVEL; INTENSIVE CARE; INTENSIVE CARE UNIT; MAJOR CLINICAL STUDY; MALE; MARKER GENE; OBSERVATIONAL STUDY; PROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; BIOSYNTHESIS; BLOOD; GENETICS; INFANT; NEWBORN; PRESCHOOL CHILD; SEVERITY OF ILLNESS INDEX;

ADOLESCENT; ADRENAL CORTEX HORMONES; ALLELES; CHILD; CHILD, PRESCHOOL; CRITICAL ILLNESS; DNA; FEMALE; GENOTYPE; HUMANS; HYDROCORTISONE; INFANT; INFANT, NEWBORN; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROSPECTIVE STUDIES; RECEPTOR, MELANOCORTIN, TYPE 2; RECEPTORS, MINERALOCORTICOID; SEVERITY OF ILLNESS INDEX; TUMOR NECROSIS FACTOR-ALPHA;

EID: 84918561462     PISSN: 15297535     EISSN: 19473893     Source Type: Journal    
DOI: 10.1097/PCC.0000000000000193     Document Type: Article

References (39)

1. Cuesta JM, Singer M: The stress response and critical illness: A review. Crit Care Med 2012; 40:3283-3289.
2. Molina PE: Neurobiology of the stress response: Contribution of the sympathetic nervous system to the neuroimmune axis in traumatic injury. Shock 2005; 24:3-10.
3. Chrousos GP: The hypothalamic-pituitary-adrenal axis and immunemediated inflammation. N Engl J Med 1995; 332:1351-1362.
4. Schumer W: Steroids in the treatment of clinical septic shock. Ann Surg 1976; 184:333-341.
5. Lefering R, Neugebauer EA: Steroid controversy in sepsis and septic shock: A meta-analysis. Crit Care Med 1995; 23:1294-1303.
6. Cronin L, Cook DJ, Carlet J, et al: Corticosteroid treatment for sepsis: A critical appraisal and meta-analysis of the literature. Crit Care Med 1995; 23:1430-1439.
7. Sprung CL, Annane D, Keh D, et al; CORTICUS Study Group: Hydrocortisone therapy for patients with septic shock. N Engl J Med 2008; 358:111-124.
8. Patel GP, Balk RA: Systemic steroids in severe sepsis and septic shock. Am J Respir Crit Care Med 2012; 185:133-139.
9. Contrael KM, Killian AJ, Gregg SR, et al: Prescribing patterns of hydrocortisone in septic shock: A single-center experience of how surviving sepsis guidelines are interpreted and translated into bedside practice. Crit Care Med 2013; 41:2310-2317.
10. Venkatesh B, Myburgh J, Finfer S, et al; ANZICS CTG investigators: The ADRENAL study protocol: Adjunctive corticosteroid treatment in critically ill patients with septic shock. Crit Care Resusc 2013; 15:83-88.
11. Marik PE: Critical illness-related corticosteroid insufficiency. Chest 2009; 135:181-193.
12. Arafah BM: Hypothalamic pituitary adrenal function during critical illness: Limitations of current assessment methods. J Clin Endocrinol Metab 2006; 91:3725-3745.
13. Hamrahian AH, Oseni TS, Arafah BM: Measurements of serum free cortisol in critically ill patients. N Engl J Med 2004; 350: 1629-1638.
14. Zimmerman JJ, Donaldson A, Barker RM, et al; Eunice Kennedy Shriver National Institute of Child Health and Human Development Collaborative Pediatric Critical Care Research Network: Real-time free cortisol quantification among critically ill children. Pediatr Crit Care Med 2011; 12:525-531.
15. Annane D, Maxime V, Ibrahim F, et al: Diagnosis of adrenal insufficiency in severe sepsis and septic shock. Am J Respir Crit Care Med 2006; 174:1319-1326.
16. Willson DF, Dean JM, Newth C, et al: Collaborative Pediatric Critical Care Research Network (CPCCRN). Pediatr Crit Care Med 2006; 7:301-307.
17. Pollack MM, Patel KM, Ruttimann UE: PRISM III: An updated Pediatric Risk of Mortality score. Crit Care Med 1996; 24:743-752.
18. Phillips C, Salas A, Sánchez JJ, et al; SNPforID Consortium: Inferring ancestral origin using a single multiplex assay of ancestry-informative marker SNPs. Forensic Sci Int Genet 2007; 1:273-280.
19. Fondevila M, Phillips C, Santos C, et al: Revision of the SNPforID 34-plex forensic ancestry test: Assay enhancements, standard reference sample genotypes and extended population studies. Forensic Sci Int Genet 2013; 7:63-74.
20. Seldin MF, Price AL: Application of ancestry informative markers to association studies in European Americans. PLoS Genet 2008; 4:e5.
21. Nassir R, Kosoy R, Tian C, et al: An ancestry informative marker set for determining continental origin: Validation and extension using human genome diversity panels. BMC Genet 2009; 10:39.
22. Reisch N, Slawik M, Zwermann O, et al: Genetic influence of an ACTH receptor promoter polymorphism on adrenal androgen secretion. Eur J Endocrinol 2005; 153:711-715.
23. Slawik M, Reisch N, Zwermann O, et al: Characterization of an adrenocorticotropin (ACTH) receptor promoter polymorphism leading to decreased adrenal responsiveness to ACTH. J Clin Endocrinol Metab 2004; 89:3131-3137.
24. Liu ZL, He B, Fang F, et al: Genetic polymorphisms of MC2R gene associated with responsiveness to adrenocorticotropic hormone therapy in infantile spasms. Chin Med J (Engl) 2008; 121:1627-1632.
25. Lappalainen S, Utriainen P, Kuulasmaa T, et al: ACTH receptor promoter polymorphism associates with severity of premature adrenarche and modulates hypothalamo-pituitary-adrenal axis in children. Pediatr Res 2008; 63:410-414.
26. Proudnikov D, Hamon S, Ott J, et al: Association of polymorphisms in the melanocortin receptor type 2 (MC2R, ACTH receptor) gene with heroin addiction. Neurosci Lett 2008; 435:234-239.
27. Forti FL, Dias MH, Armelin HA: ACTH receptor: Ectopic expression, activity and signaling. Mol Cell Biochem 2006; 293:147-160.
28. Chida D, Nakagawa S, Nagai S, et al: Melanocortin 2 receptor is required for adrenal gland development, steroidogenesis, and neonatal gluconeogenesis. Proc Natl Acad Sci U S A 2007; 104:18205-18210.
29. Metherell LA, Chan LF, Clark AJ: The genetics of ACTH resistance syndromes. Best Pract Res Clin Endocrinol Metab 2006; 20:547-560.
30. Chung TT, Webb TR, Chan LF, et al: The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface. J Clin Endocrinol Metab 2008; 93:4948-4954.
31. Chung TT, Chan LF, Metherell LA, et al: Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2. Clin Endocrinol (Oxf) 2010; 72:589-594.
32. Hall IP, Blakey JD: Genetic association studies in Thorax. Thorax 2005; 60:357-359.
33. Ding YX, Zou LP, He B, et al: ACTH receptor (MC2R) promoter variants associated with infantile spasms modulate MC2R expression and responsiveness to ACTH. Pharmacogenet Genomics 2010; 20:71-76.
34. Sherry ST, Ward MH, Kholodov M, et al: dbSNP: The NCBI database of genetic variation. Nucleic Acids Res 2001; 29:308-311.
35. Phuc Le P, Friedman JR, Schug J, et al: Glucocorticoid receptordependent gene regulatory networks. PLoS Genet 2005; 1:e16.
36. Jäättelä M, Carpén O, Stenman UH, et al: Regulation of ACTHinduced steroidogenesis in human fetal adrenals by rTNF-alpha. Mol Cell Endocrinol 1990; 68:R31-R36.
37. Jäättelä M, Ilvesmäki V, Voutilainen R, et al: Tumor necrosis factor as a potent inhibitor of adrenocorticotropin-induced cortisol production and steroidogenic P450 enzyme gene expression in cultured human fetal adrenal cells. Endocrinology 1991; 128:623-629.
38. Cai TQ, Wong B, Mundt SS, et al: Induction of 11beta-hydroxysteroid dehydrogenase type 1 but not -2 in human aortic smooth muscle cells by inflammatory stimuli. J Steroid Biochem Mol Biol 2001; 77:117-122.
39. Tomlinson JW, Moore J, Cooper MS, et al: Regulation of expression of 11beta-hydroxysteroid dehydrogenase type 1 in adipose tissue: Tissue-specific induction by cytokines. Endocrinology 2001; 142:1982-1989.