The role of a mineralocorticoid receptor gene functional polymorphism in the symptom dimensions of persistent ADHD

European Archives of Psychiatry and Clinical Neuroscience

Volumn 263, Issue 3, 2013, Pages 181-188

  Kortmann, Gustavo Lucena ^a,b   Contini, Verônica ^a,c,d   Bertuzzi, Guilherme Pinto ^a,c   Mota, Nina Roth ^a,c   Rovaris, Diego Luiz ^a,c   Paixão Côrtes, Vanessa Rodrigues ^a   De Lima, Leandro Leal ^a,c   Grevet, Eugenio Horacio ^c   Salgado, Carlos Alberto Iglesias ^c   Vitola, Eduardo Schneider ^c   Rohde, Luis Augusto ^c,d   Belmonte De Abreu, Paulo ^c   Bau, Claiton Henrique Dotto ^a,c  

^a FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^b Instituto Geral de Pericias   (Brazil)

^c HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^d National Institute of Developmental Psychiatry for Children and Adolescents   (Brazil)

Author keywords

ADHD; Cortisol; Mineralocorticoid receptor; MRI180V; Severity; Stress

Indexed keywords

MINERALOCORTICOID RECEPTOR;

ADULT; ARTICLE; ATTENTION DEFICIT DISORDER; COGNITIVE DEFECT; COMPARATIVE STUDY; CONTROLLED STUDY; DEPRESSION; DISABILITY SEVERITY; DISEASE PREDISPOSITION; DNA POLYMORPHISM; DSM-IV; FEMALE; GENE FREQUENCY; GENE FUNCTION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL PATIENT; OUTPATIENT; PHENOTYPE; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL; STRESS;

ADULT; ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, MINERALOCORTICOID; VALINE; YOUNG ADULT;

EID: 84879460290     PISSN: 09401334     EISSN: 14338491     Source Type: Journal    
DOI: 10.1007/s00406-012-0321-z     Document Type: Article

References (68)

1. Faraone SV, Biederman J, Mick E (2006) The age-dependent decline of attention deficit hyperactivity disorder: a meta-analysis of follow-up studies. Psychol Med 36:159-165 (Pubitemid 43126140)
2. Fayyad J, De Graaf R, Kessler R, Alonso J, Angermeyer M, Demyttenaere K, De Girolamo G, Haro JM, Karam EG, Lara C, Lépine JP, Ormel J, Posada-Villa J, Zaslavsky AM, Jin R (2007) Cross-national prevalence and correlates of adult attention-deficit hyperactivity disorder. Br J Psychiatry 190:402-409 (Pubitemid 46706952)
3. Polanczyk G, Lima MS, Horta BL, Biederman J, Rohde LA (2007) The Worldwide Prevalence of ADHD: a systematic review and metaregression analysis. Am J Psychiatry 164:942-948 (Pubitemid 46972911)
4. Simon V, Czobor P, Bálint S, Mészáros A, Bitter I (2009) Prevalence and correlates of adult attention deficit/hyperactivity disorder: meta-analysis. Br J Psychiatry 194:204-211
5. Gizer IR, Ficks C, Waldman ID (2009) Candidate gene studies of ADHD: a meta-analytic review. Hum Genet 126:51-90
6. Franke B, Neale BM, Faraone SV (2009) Genome-wide association studies in ADHD. Hum Genet 126:13-50
7. Alleva E, Francia N (2009) Psychiatric vulnerability: suggestions from animal models and role of neurotrophins. Neurosci Biobehav Rev 33:525-536
8. Maccari S, Darnaudery M, Morley-Fletcher S, Zuena AR, Cinque C, Van Reeth O (2003) Prenatal stress and long-term consequences: implications of glucocorticoid hormones. Neurosci Biobehav Rev 27:119-127 (Pubitemid 36535394)
9. Meier A (1985) Child psychiatric sequelae of maternal war stress. Acta Psychiatr Scand 72:505-511
10. Schell LM (1981) Environmental noise and human prenatal growth. Am J Physiol Anthropol 56:63-70 (Pubitemid 12193543)
11. Weinstock M (1997) Does prenatal stress impair coping and regulation of hypothalamic-pituitary-adrenal axis? Neurosci Biobehav Rev 21:1-10 (Pubitemid 27044546)
12. Weinstock M (2005) The potential influence of maternal stress hormones on development and mental health of the offspring. Brain Behav Immun 19:296-308 (Pubitemid 40797985)
13. King JA, Barkley RA, Barrett S (1998) Attention-deficit hyperactivity disorder and the stress response. Biol Psychiatry 44:72-74 (Pubitemid 28305545)
14. Hong HJ, Shin DW, Lee EH, Oh YH, Noh KS (2003) Hypothalamic-pituitary- adrenal reactivity in boys with attention deficit hyperactivity disorder. Yonsei Med J 44:608-614 (Pubitemid 37098880)
15. Yang SJ, Shin DW, Noh KS, Stein MA (2007) Cortisol is inversely correlated with aggression for those boys with attention deficit hyperactivity disorder who retain their reactivity to stress. Psychiatry Res 153:55-60 (Pubitemid 47374821)
16. Lackschewitz H, Huther G, Kroner-Herwig B (2008) Physiological and psychological stress responses in adults with attention-deficit/hyperactivity disorder (ADHD). Psychoneuroendocrinology 33:612-624
17. van West D, Claes S, Deboutte D (2009) Differences in hypothalamic-pituitary-adrenal axis functioning among children with ADHD predominantly inattentive and combined types. Eur Child Adolesc Psychiatry 9:543-553
18. Kariyawasam SH, Zaw F, Handley SL (2002) Reduced salivary cortisol in children with comorbid Attention deficit hyperactivity disorder and oppositional defiant disorder. Neuro Endocrinol Lett 1:45-48 (Pubitemid 34192868)
19. Ma L, Chen YH, Chen H, Liu YY, Wang YX (2011) The function of hypothalamus-pituitary-adrenal axis in children with ADHD. Brain Res 1368:159-162
20. Sondeijker FE, Ferdinand RF, Oldehinkel AJ, Veenstra R, Tiemeier H, Ormel J, Verhulst FC (2007) Disruptive behaviors and HPA-axis activity in young adolescent boys and girls from the general population. J Psychiatr Res 41:570-578 (Pubitemid 46330395)
21. de Kloet ER, Vreugdenhil E, Oitzl MS, Joëls M (1998) Brain corticosteroid receptor balance in health and disease. Endocr Rev 19:269-301 (Pubitemid 29117816)
22. de Kloet ER, Van Acker SA, Sibug RM, Oitzl MS, Meijer OC, Rahmouni K, de Jong W (2000) Brain mineralocorticoid receptors and centrally regulated functions. Kidney Int 57:1329-1336 (Pubitemid 30207887)
23. de Rijk RH, Wust S, Meijer OC, Zennaro MC, Federenko IS, Hellhammer DH, Giacchetti G, Vreugdenhil E, Zitman FG, de Kloet ER (2006) A common polymorphism in the mineralocorticoid receptor modulates stress responsiveness. J Clin Endocrinol Metab 91:5083-5089 (Pubitemid 44917354)
24. Reul JM, de Kloet ER (1985) Two receptor systems for corticosterone in rat brain: microdistribution and differential occupation. Endocrinology 117:2505-2511 (Pubitemid 16194083)
25. Funder JW (2004) Aldosterone, mineralocorticoid receptors and vascular inflammation. Mol Cell Endocrinol 217:263-269 (Pubitemid 38596652)
26. de Kloet ER (2003) Hormones, brain and stress. Endocr Regul 37:51-68 (Pubitemid 37420023)
27. Otte C, Moritz S, Yassouridis A, Koop M, Madrischewski AM, Wiedemann K, Kellner M (2007) Blockade of the mineralocorticoid receptor in healthy men: effects on experimentally induced panic symptoms, stress hormones, and cognition. Neuropsychopharmacology 32:232-238 (Pubitemid 44967802)
28. de Rijk RH, van Leeuwen N, Klok MD, Zitman FG (2008) Corticosteroid receptor-gene variants: modulators of the stress-response and implications for mental health. Eur J Pharmacol 585:492-501
29. de Rijk RH (2009) Single nucleotide polymorphisms related to HPA axis reactivity. NeuroImmunoModulation 16:340-352
30. Kuningas M, de Rijk RH, Westendorp RG, Jolles J, Slagboom PE, van Heemst D (2007) Mental performance in old age dependent on cortisol and genetic variance in the mineralocorticoid and glucocorticoid receptors. Neuropsychopharmacology 32:1295-1301 (Pubitemid 46788863)
31. Bogdan R, Perlis RH, Fagerness J, Pizzagalli DA (2010) The impact of mineralocorticoid receptor ISO/VAL genotype (rs5522) and stress on reward learning. Genes Brain Behav 9:658-667
32. Arai K, Nakagomi Y, Iketani M, Shimura Y, Amemiya S, Ohyama K, Shibasaki T (2003) Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism. Hum Genet 112:91-97 (Pubitemid 36869121)
33. de Rijk RH, de Kloet ER, Zitman FG, van Leeuwen N (2011) Mineralocorticoid receptor gene variants as determinants of HPA axis regulation and behavior. Endocr Dev 20:137-148
34. Luijk MP, Tharner A, Bakermans-Kranenburg MJ, van Ijzendoorn MH, Jaddoe VW, Hofman A, Verhulst FC, Tiemeier H (2011) The association between parenting and attachment security is moderated by a polymorphism in the mineralocorticoid receptor gene: evidence for differential susceptibility. Biol Psychol 88:37-40
35. American Psychiatric Association (1994) Diagnostic and statistical manual of mental disorders, 4th edn. American Psychiatric Press, Washington, DC
36. Kaplan E, Fein D, Morris R, Delis DC (1991) WAIS-R: manual. Psychological corporation, San Antonio
37. Salzano FM, Bortolini MC (2002) The evolution and genetics of Latin American populations. Cambridge University Press, Cambridge
38. Zembrzuski VM, Callegari-Jacques SM, Hutz MH (2006) Application of an African Ancestry Index as a genomic control approach in a Brazilian population. Ann Hum Genet 70:822-828 (Pubitemid 44530646)
39. Santos NP, Ribeiro-Rodrigues EM, Ribeiro-Dos-Santos AK, Pereira R, Gusmão L, Amorim A, Guerreiro JF, Zago MA, Matte C, Hutz MH, Santos SE (2010) Assessing individual interethnic admixture and population substructure using a 48-insertion-deletion (insel) ancestry-informative marker (aim) panel. Hum Mutat 31:184-190
40. Hutchison KE, Stallings M, McGeary J, Bryan A (2004) Population stratification in the candidate gene study: fatal threat or red herring? Psychol Bull 130:66-79 (Pubitemid 38085392)
41. Mercadante MT, Asbahar F, Rosário MC, Ayres AM, Karman L, Ferrari MC, Assumpcão FB, Miguel EC (1995) K-SADS, entrevista semi-estruturada para diagnóstico em psiquiatria da infância, versão epidemiológica. FMUSP, São Paulo
42. Grevet EH, Bau CH (2005) Interrater reliability for diagnosis in adults of attention deficit hyperactivity disorder and oppositional defiant disorder using K-SADS-E. Arq Neuropsiquiatr 63:307-310 (Pubitemid 40834728)
43. First MB, Spitzer RL, Gibbon M, Williams JB (1998) Structured clinical interview for DSMIV (SCID-I). Biomedics Research Department, New York
44. Sheehan DV, Lecrubier Y, Sheehan KH, Amorim P, Janavs J, Weiller E, Hergueta T, Baker R, Dunbar GC (1998) The Mini-International Neuropsychiatric Interview (M.I.N.I.): the development and validation of a structured diagnostic psychiatric interview for DSM-IV and ICD-10. J Clin Psychiatry 59(Suppl 20):22-33; quiz 34-57 (Pubitemid 29001829)
45. Wechsler D (1981) WAIS-R - Manual for the Wechsler Adult Intelligence Scale - Revised. The Psychological Corporation, San Antonio
46. Swanson JM (1992) School-based assessments and interventions for ADD students. KC Publishing, Irvine
47. Barkley RA, Murphy KR (1998) Attention deficit hyperactivity disorder: a clinical workbook, vol 2. The Guilford Press, New York
48. Grevet EH, Bau CH, Salgado CA, Ficher A, Kalil K, Victor MM, Garcia C, Sousa NO, Belmonte-de-Abreu P (2006) Lack of gender effects on subtype outcomes in adults with attention-deficit/hyperactivity disorder: support for the validity of subtypes. Eur Arch Psychiatry Clin Neurosci 256:311-319 (Pubitemid 44285056)
49. Fischer AG, Bau CH, Grevet EH, Salgado CA, Victor MM, Kalil KL, Sousa NO, Garcia CR, Belmonte-de-Abreu P (2007) The role of comorbid major depressive disorder in the clinical presentation of adult ADHD. J Psychiatr Res 41:991-996 (Pubitemid 47301943)
50. Contini V, Victor MM, Cerqueira CC, Polina ER, Grevet EH, Salgado CA, Karam RG, Vitola ES, Belmonte-de-Abreu P, Bau CH (2011) Adrenergic α2A receptor gene is not associated with methylphenidate response in adults with ADHD. Eur Arch Psychiatry Clin Neurosci 261:205-211
51. Karam RG, Bau CH, Salgado CA, Kalil KL, Victor MM, Sousa NO, Vitola ES, Picon FA, Zeni GD, Rohde LA, Belmonte-de-Abreu P, Grevet EH (2009) Late-onset ADHD in adults: milder, but still dysfunctional. J Psychiatr Res 43:697-701
52. Lahiri DK, Nurnberger JI Jr (1991) A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 19:5444
53. Sousa NO, Grevet EH, Salgado CA, Silva KL, Victor MM, Karam RG, Vitola ES, Picon FA, Zeni GD, Rohde LA, Belmonte-de-Abreu P, Bau CH (2011) Smoking and ADHD: an evaluation of self medication and behavioral disinhibition models based on comorbidity and personality patterns. J Psychiatr Res 6:829-834
54. Cole J, Ball HA, Martin NC, Scourfield J, McGuffin P (2009) Genetic overlap between measures of hyperactivity/inattention and mood in children and adolescents. J Am Acad Child Adolesc Psychiatry 11:1094-1101
55. Blase SL, Gilbert AN, Anastopoulos AD, Costello EJ, Hoyle RH, Swartzwelder HS, Rabiner DL (2009) Self-reported ADHD and adjustment in college: cross-sectional and longitudinal findings. J Attend Disord 3:297-309
56. Purper-Ouakil D, Franc N (2011) Emotional dysfunctions in attention deficit hyperactivity disorder. Arch Pediatr 6:679-685
57. Le Menuet D, Viengchareun S, Muffat-Joly M, Zennaro MC, Lombès M (2004) Expression and function of the human mineralocorticoid receptor: lessons from transgenic mouse models. Mol Cell Endocrinol 217:127-136 (Pubitemid 38596637)
58. Neale BM, Medland SE, Ripke S, Asherson P, Franke B, Lesch KP, Faraone SV, Nguyen TT, Schäfer H, Holmans P, Daly M, Steinhausen HC, Freitag C, Reif A, Renner TJ, Romanos M, Romanos J, Walitza S, Warnke A, Meyer J, Palmason H, Buitelaar J, Vasquez AA, Lambregts-Rommelse N, Gill M, Anney RJ, Langely K, O'Donovan M, Williams N, Owen M, Thapar A, Kent L, Sergeant J, Roeyers H, Mick E, Biederman J, Doyle A, Smalley S, Loo S, Hakonarson H, Elia J, Todorov A, Miranda A, Mulas F, Ebstein RP, Rothenberger A, Banaschewski T, Oades RD, Sonuga-Barke E, McGough J, Nisenbaum L, Middleton F, Hu X, Nelson S; Psychiatric GWAS Consortium: ADHD Subgroup (2010) Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry 49:884-897
59. Pan Y, Wang KS, Aragam N (2011) Ntm and nr3c2 polymorphisms influencing intelligence: Family-based association studies. Prog Neuropsychopharmacol Biol Psychiatry 35:154-160
60. Berrettini W, Yuan X, Tozzi F, Song K, Francks C, Chilcoat H, Waterworth D, Muglia P, Mooser V (2008) Alpha-5/alpha-3 nicotinic receptor subunit alleles increase risk for heavy smoking. Mol Psychiatry 13:368-373 (Pubitemid 351399826)
61. Shaw P, Gilliam M, Liverpool M, Weddle C, Malek M, Sharp W, Greenstein D, Evans A, Rapoport J, Giedd J (2011) Cortical development in typically developing children with symptoms of hyperactivity and impulsivity: support for a dimensional view of attention deficit hyperactivity disorder. Am J Psychiatry 168:143-151
62. Lubke GH, Hudziak JJ, Derks EM, van Bijsterveldt TC, Boomsma DI (2009) Maternal ratings of attention problems in ADHD: evidence for the existence of a continuum. J Am Acad Child Adolesc Psychiatry 48:1085-1093
63. Polderman TJ, Derks EM, Hudziak JJ, Verhulst FC, Posthuma D, Boomsma DI (2007) Across the continuum of attention skills: a twin study of the SWAN ADHD rating scale. J Child Psychol Psychiatry 48:1080-1087 (Pubitemid 350086159)
64. El Hage W, Powell JF, Surguladze SA (2009) Vulnerability to depression: what is the role of stress genes in gene x environment interaction? Psychol Med 39:1407-1411
65. Gillespie CF, Phifer J, Bradley B, Ressler KJ (2009) Risk and resilience: genetic and environmental influences on development of the stress response. Depress Anxiety 26:984-992
66. van Leeuwen N, Bellingrath S, de Kloet ER, Zitman FG, DeRijk RH, Kudielka BM, Wüst S (2011) Human mineralocorticoid receptor (MR) gene haplotypes modulate MR expression and transactivation: implication for the stress response. Psychoneuroendocrinology 5:699-709
67. van Leeuwen N, Kumsta R, Entringer S, de Kloet ER, Zitman FG, DeRijk RH, Wüst S (2010) Functional mineralocorticoid receptor (MR) gene variation influences the cortisol awakening response after dexamethasone. Psychoneuroendocrinology 35:339-349
68. Kebir O, Joober R (2011) Neuropsychological endophenotypes in attention-deficit/hyperactivity disorder: a review of genetic association studies. Eur Arch Psychiatry Clin Neurosci 261:583-594 Tecnológico Superior