Maternal genotypes as predictors of offspring mental health: The next frontier of genomic medicine?

Future Neurology

Volumn 6, Issue 6, 2011, Pages 731-743

  Haavik, Jan ^a,b   Halmøy, Anne ^a,b   Hegvik, Tor Arne ^a   Johansson, Stefan ^a,b  

^a UNIVERSITY OF BERGEN   (Norway)

^b HAUKELAND UNIVERSITY HOSPITAL   (Norway)

Author keywords

ADHD; attention deficithyperactivity disorder; embryo; gene environment interaction; genome; schizophrenia; serotonin; teratogenic allele; tryptophan hydroxylase

Indexed keywords

CORTICOSTEROID; FATTY ACID; SEROTONIN; THYROID HORMONE; TRACE ELEMENT;

ATTENTION DEFICIT DISORDER; AUTISM; BASE PAIRING; BEHAVIOR; DEVELOPMENTAL DISORDER; EARLY INTERVENTION; ENVIRONMENTAL EXPOSURE; EPIGENETICS; GENOTYPE; HERITABILITY; HUMAN; MENTAL HEALTH; NERVOUS SYSTEM DEVELOPMENT; NONHUMAN; PRENATAL DEVELOPMENT; PRIORITY JOURNAL; PROGENY; REVIEW; RISK FACTOR; SCHIZOPHRENIA;

EID: 80155182138     PISSN: 14796708     EISSN: 17486971     Source Type: Journal    
DOI: 10.2217/fnl.11.54     Document Type: Review

References (108)

1. Gershon ES, Alliey-Rodriguez N, Liu C. After GWAS: searching for genetic risk for schizophrenia and bipolar disorder. Am. J. Psychiatry 168(3), 253-256 (2011).
2. Manolio TA, Collins FS, Cox NJ et al. Finding the missing heritability of complex diseases. Nature 461(7265), 747-753 (2009).
3. Eichler EE, Flint J, Gibson G et al. Missing heritability and strategies for finding the underlying causes of complex disease. Nat. Rev. Genet. 11(6), 446-450 (2010).
4. Barker DJ. The developmental origins of adult disease. J. Am. Coll. Nutr. 23(6 Suppl.), 588S-595S (2004). (Pubitemid 40096746)
5. Johnson WG. Teratogenic alleles and neurodevelopmental disorders. Bioessays 25(5), 464-477 (2003). (Pubitemid 36565684)
6. van Os J, Kapur S. Schizophrenia. Lancet 374(9690), 635-645 (2009).
7. Amaral DG, Schumann CM, Nordahl CW. Neuroanatomy of autism. Trends Neurosci. 31(3), 137-145 (2008).
8. Krain AL, Castellanos FX. Brain development and ADHD. Clin. Psychol. Rev. 26(4), 433-444 (2006).
9. Rice D, Barone S Jr. Critical periods of vulnerability for the developing nervous system: evidence from humans and animal models. Environ. Health Perspect. 108(Suppl. 3), 511-533 (2000). (Pubitemid 30466179)
10. Bale AS, Barone S Jr, Scott CS, Cooper GS. A review of potential neurotoxic mechanisms among three chlorinated organic solvents. Toxicol. Appl. Pharmacol. 255(1), 113-126 (2011).
11. Prescott SL, Clifton V. Asthma and pregnancy: emerging evidence of epigenetic interactions in utero. Curr. Opin. Allergy Clin. Immunol. 9(5), 417-426 (2009).
12. Pharoah PO, Buttfield IH, Hetzel BS. Neurological damage to the fetus resulting from severe iodine deficiency during pregnancy. Lancet 1(7694), 308-310 (1971).
13. Benton D. The influence of dietary status on the cognitive performance of children. Mol. Nutr. Food Res. 54(4), 457-470 (2010).
14. Botto LD, Moore CA, Khoury MJ, Erickson JD. Neural-tube defects. N. Engl. J. Med. 341(20), 1509-1519 (1999). (Pubitemid 29526355)
15. Susser E, Neugebauer R, Hoek HW et al. Schizophrenia after prenatal famine. Further evidence. Arch. Gen. Psychiatry 53(1), 25-31 (1996).
16. St Clair D, Xu M, Wang P et al. Rates of adult schizophrenia following prenatal exposure to the Chinese famine of 1959-1961. JAMA 294(5), 557-562 (2005). (Pubitemid 41126897)
17. Wattendorf DJ, Muenke M. Fetal alcohol spectrum disorders. Am. Fam. Physician 72(2), 279-282, 285 (2005).
18. Linnet KM, Wisborg K, Obel C et al. Smoking during pregnancy and the risk for hyperkinetic disorder in offspring. Pediatrics 116(2), 462-467 (2005). (Pubitemid 44161475)
19. Thapar A, Rice F, Hay D et al. Prenatal smoking might not cause attention-deficit/hyperactivity disorder: evidence from a novel design. Biol. Psychiatry 66(8), 722-727 (2009).
20. Linnet KM, Dalsgaard S, Obel C et al. Maternal lifestyle factors in pregnancy risk of attention deficit hyperactivity disorder and associated behaviors: review of the current evidence. Am. J. Psychiatry 160(6), 1028-1040 (2003). (Pubitemid 41070961)
21. Ekblad M, Gissler M, Lehtonen L, Korkeila J. Prenatal smoking exposure and the risk of psychiatric morbidity into young adulthood. Arch. Gen. Psychiatry 67(8), 841-849 (2010).
22. Deverman BE, Patterson PH. Cytokines and CNS development. Neuron 64(1), 61-78 (2009).
23. Shaw GM, Wasserman CR, Lammer EJ et al. Orofacial clefts, parental cigarette smoking, and transforming growth factor-a gene variants. Am. J. Hum. Genet. 58(3), 551-561 (1996). (Pubitemid 26062486)
24. Letterio JJ, Geiser AG, Kulkarni AB, Roche NS, Sporn MB, Roberts AB. Maternal rescue of transforming growth factor-b 1 null mice. Science 264(5167), 1936-1938 (1994). (Pubitemid 24245640)
25. Halmøy A, Melve KK, Skjærven R, Haavik J. Pre-and perinatal risk factors in adult ADHD. Biol. Psychiatry (2011) (In Press).
26. Ornoy A, Ratzon N, Greenbaum C, Wolf A, Dulitzky M. School-age children born to diabetic mothers and to mothers with gestational diabetes exhibit a high rate of inattention and fine and gross motor impairment. J. Pediatr. Endocrinol. Metab. 14(Suppl. 1), 681-689 (2001). (Pubitemid 32479521)
27. Van Lieshout RJ, Voruganti LP. Diabetes mellitus during pregnancy and increased risk of schizophrenia in offspring: a review of the evidence and putative mechanisms. J. Psychiatry Neurosci. 33(5), 395-404 (2008).
28. Hattersley AT, Beards F, Ballantyne E, Appleton M, Harvey R, Ellard S. Mutations in the glucokinase gene of the fetus result in reduced birth weight. Nat. Genet. 19(3), 268-270 (1998). (Pubitemid 28309340)
29. Freathy RM, Mook-Kanamori DO, Sovio U et al. Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. Nat. Genet. 42(5), 430-435 (2010).
30. Freathy RM, Weedon MN, Bennett A et al. Type 2 diabetes TCF7L2 risk genotypes alter birth weight: a study of 24,053 individuals. Am. J. Hum. Genet. 80(6), 1150-1161 (2007). (Pubitemid 47579350)
31. Maillot F, Cook P, Lilburn M, Lee PJ. A practical approach to maternal phenylketonuria management. J. Inherit. Metab. Dis. 30(2), 198-201 (2007). (Pubitemid 46488001)
32. Talkowski ME, McClain L, Allen T et al. Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples. Am. J. Med. Genet. B Neuropsychiatr. Genet. 150B(4), 560-569 (2009).
33. Byrne M, Agerbo E, Bennedsen B, Eaton WW, Mortensen PB. Obstetric conditions and risk of first admission with schizophrenia: a Danish national register based study. Schizophr. Res. 97(1-3), 51-59 (2007). (Pubitemid 350088389)
34. Pineda DA, Palacio LG, Puerta IC et al. Environmental influences that affect attention deficit/hyperactivity disorder: study of a genetic isolate. Eur. Child Adolesc. Psychiatry 16(5), 337-346 (2007). (Pubitemid 47305459)
35. Bilenberg N, Hougaard D, Norgaard-Pedersen B, Nordenbaek CM, Olsen J. Twin study on transplacental-acquired antibodies and attention deficit/hyperactivity disorder-a pilot study. J. Neuroimmunol. 236(1-2), 72-75 (2011).
36. Agartz I, Brown AA, Rimol LM et al. Common sequence variants in the major histocompatibility complex region associate with cerebral ventricular size in schizophrenia. Biol. Psychiatry 70(7), 696-698 (2011).
37. Williams TA, Mars AE, Buyske SG et al. Risk of autistic disorder in affected offspring of mothers with a glutathione S-transferase P1 haplotype. Arch. Pediatr. Adolesc. Med. 161(4), 356-361 (2007). (Pubitemid 46556366)
38. van Rooij IA, Wegerif MJ, Roelofs HM et al. Smoking, genetic polymorphisms in biotransformation enzymes, and nonsyndromic oral clefting: a gene-environment interaction. Epidemiology 12(5), 502-507 (2001). (Pubitemid 32761988)
39. Langevin F, Crossan GP, Rosado IV, Arends MJ, Patel KJ. Fancd2 counteracts the toxic effects of naturally produced aldehydes in mice. Nature 475(7354), 53-58 (2011).
40. Gilliam D, Valdez N, Branson S, Dixon A, Downing C. Maternal effects on ethanol teratogenesis in a cross between A/J and C57BL/6J mice. Alcohol 45(5), 441-449 (2011).
41. Hobbs CA, Sherman SL, Yi P et al. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. Am. J. Hum. Genet. 67(3), 623-630 (2000). (Pubitemid 30659593)
42. Steinfeld R, Grapp M, Kraetzner R et al. Folate receptor a defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am. J. Hum. Genet. 85(3), 354-363 (2009).
43. James SJ, Melnyk S, Jernigan S et al. Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism. Am. J. Med. Genet. B Neuropsychiatr. Genet. 141B(8), 947-956 (2006). (Pubitemid 44905454)
44. Nelson MM, Asling CW, Evans HM. Production of multiple congenital abnormalities in young by maternal pteroylglutamic acid deficiency during gestation. J. Nutr. 48(1), 61-79 (1952).
45. Burdge GC. Homocysteine: a role in fetal programming? Br. J. Nutr. 96(3), 415-417 (2006).
46. Doolin MT, Barbaux S, McDonnell M, Hoess K, Whitehead AS, Mitchell LE. Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida. Am. J. Hum. Genet. 71(5), 1222-1226 (2002). (Pubitemid 35305242)
47. Pilsner JR, Hu H, Wright RO et al. Maternal MTHFR genotype and haplotype predict deficits in early cognitive development in a lead-exposed birth cohort in Mexico City. Am. J. Clin. Nutr. 92(1), 226-234 (2010).
48. Yang QH, Botto LD, Gallagher M et al. Prevalence and effects of gene-gene and genenutrient interactions on serum folate and serum total homocysteine concentrations in the United States: findings from the third National Health and Nutrition Examination Survey DNA bank. Am. J. Clin. Nutr. 88(1), 232-246 (2008). (Pubitemid 351988705)
49. Zhang C, Xie B, Fang Y et al. Influence of maternal MTHFR A1298C polymorphism on the risk in offspring of schizophrenia. Brain Res. 1320, 130-134 (2010).
50. James SJ, Melnyk S, Jernigan S et al. A functional polymorphism in the reduced folate carrier gene and DNA hypomethylation in mothers of children with autism. Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B(6), 1209-1220 (2010).
51. do Carmo MDT, de Souza AS, Fernandes FS. Effects of maternal malnutrition and postnatal nutritional rehabilitation on brain fatty acids, learning, and memory. Nutr. Rev. 69(3), 132-144 (2011).
52. Sullivan EL, Smith MS, Grove KL. Perinatal exposure to high-fat diet programs energy balance, metabolism and behavior in adulthood. Neuroendocrinology 93(1), 1-8 (2011).
53. Morales E, Bustamante M, Gonzalez JR et al. Genetic variants of the FADS gene cluster and ELOVL gene family, colostrums LC-PUFA levels, breastfeeding, and child cognition. PLoS One 6(2), E17181 (2011).
54. Beversdorf DQ, Manning SE, Hillier A et al. Timing of prenatal stressors and autism. J. Autism Dev. Disord. 35(4), 471-478 (2005). (Pubitemid 41216433)
55. Malaspina D, Corcoran C, Kleinhaus KR et al. Acute maternal stress in pregnancy and schizophrenia in offspring: a cohort prospective study. BMC Psychiatry 8, 71 (2008).
56. Weinstock M. The long-term behavioural consequences of prenatal stress. Neurosci. Biobehav. Rev. 32(6), 1073-1086 (2008).
57. Fukumoto K, Morita T, Mayanagi T et al. Detrimental effects of glucocorticoids on neuronal migration during brain development. Mol. Psychiatry 14(12), 1119-1131 (2009).
58. Seckl JR, Holmes MC. Mechanisms of disease: glucocorticoids, their placental metabolism and fetal 'programming' of adult pathophysiology. Nat. Clin. Pract. Endocrinol. Metab. 3(6), 479-488 (2007). (Pubitemid 46808745)
59. Wyrwoll CS, Holmes MC, Seckl JR. 11b-hydroxysteroid dehydrogenases and the brain: from zero to hero, a decade of progress. Front. Neuroendocrinol. 32(3), 265-286 (2011).
60. Sinkus ML, Wamboldt MZ, Barton A, Fingerlin TE, Laudenslager ML, Leonard S. The a7 nicotinic acetylcholine receptor and the acute stress response: maternal genotype determines offspring phenotype. Physiol. Behav. 104(2), 321-326 (2011).
61. Boyages SC, Halpern JP. Endemic cretinism: toward a unifying hypothesis. Thyroid 3(1), 59-69 (1993). (Pubitemid 23134485)
62. Patel J, Landers K, Li H, Mortimer RH, Richard K. Thyroid hormones and fetal neurological development. J. Endocrinol. 209(1), 1-8 (2011).
63. Drews K, Seremak-Mrozikiewicz A. The optimal treatment of thyroid gland function disturbances during pregnancy. Curr. Pharm. Biotechnol. 12(5), 774-780 (2011).
64. Refetoff S, DeWind LT, DeGroot LJ. Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J. Clin. Endocrinol. Metab. 27(2), 279-294 (1967).
65. Haddow JE, Palomaki GE, Allan WC et al. Maternal thyroid deficiency during pregnancy and subsequent neuropsychological development of the child. N. Engl. J. Med. 341(8), 549-555 (1999). (Pubitemid 29384162)
66. Vermiglio F, Lo Presti VP, Moleti M et al. Attention deficit and hyperactivity disorders in the offspring of mothers exposed to mild-moderate iodine deficiency: a possible novel iodine deficiency disorder in developed countries. J. Clin. Endocrinol. Metab. 89(12), 6054-6060 (2004). (Pubitemid 39628414)
67. Grasberger H, Refetoff S. Genetic causes of congenital hypothyroidism due to dyshormonogenesis. Curr. Opin. Pediatr. 23(4), 421-428 (2011).
68. Teumer A, Rawal R, Homuth G et al. Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk. Am. J. Hum. Genet. 88(5), 664-673 (2011).
69. Clifton-Bligh RJ, Wentworth JM, Heinz P et al. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nat. Genet. 19(4), 399-401 (1998). (Pubitemid 28357916)
70. Castanet M, Polak M, Leger J. Familial forms of thyroid dysgenesis. Endocr. Dev. 10, 15-28 (2007).
71. Biebermann H, Gruters A, Schoneberg T, Gudermann T. Congenital hypothyroidism caused by mutations in the thyrotropin-receptor gene. N. Engl. J. Med. 336(19), 1390-1391 (1997). (Pubitemid 27208629)
72. Medeiros-Neto G, Herodotou DT, Rajan S et al. A circulating, biologically inactive thyrotropin caused by a mutation in the b subunit gene. J. Clin. Invest. 97(5), 1250-1256 (1996). (Pubitemid 26085481)
73. Targovnik HM, Citterio CE, Rivolta CM. Thyroglobulin gene mutations in congenital hypothyroidism. Horm. Res. Paediatr. 75(5), 311-321 (2011).
74. Abramowicz MJ, Targovnik HM, Varela V et al. Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. J. Clin. Invest. 90(4), 1200-1204 (1992).
75. Desouza LA, Sathanoori M, Kapoor R et al. Thyroid hormone regulates the expression of the sonic hedgehog signaling pathway in the embryonic and adult mammalian brain. Endocrinology 152(5), 1989-2000 (2011).
76. Sinha RA, Pathak A, Mohan V, Bandyopadhyay S, Rastogi L, Godbole MM. Maternal thyroid hormone: a strong repressor of neuronal nitric oxide synthase in rat embryonic neocortex. Endocrinology 149(9), 4396-4401 (2008).
77. Sittig LJ, Herzing LB, Shukla PK, Redei EE. Parent-of-origin allelic contributions to deiodinase-3 expression elicit localized hyperthyroid milieu in the hippocampus. Mol. Psychiatry 16(8), 786-787 (2011).
78. Sittig LJ, Redei EE. Paternal genetic contribution influences fetal vulnerability to maternal alcohol consumption in a rat model of fetal alcohol spectrum disorder. PLoS One 5(4), E10058 (2010).
79. Gaspar P, Cases O, Maroteaux L. The developmental role of serotonin: news from mouse molecular genetics. Nat. Rev. Neurosci. 4(12), 1002-1012 (2003). (Pubitemid 37486676)
80. Murphy DL, Lesch KP. Targeting the murine serotonin transporter: insights into human neurobiology. Nat. Rev. Neurosci. 9(2), 85-96 (2008). (Pubitemid 351164876)
81. Bevilacqua L, Doly S, Kaprio J et al. A population-specific HTR2B stop codon predisposes to severe impulsivity. Nature 468(7327), 1061-1066 (2010).
82. Haavik J, Blau N, Thony B. Mutations in human monoamine-related neurotransmitter pathway genes. Hum. Mutat. 29(7), 891-902 (2008). (Pubitemid 351951283)
83. Gleason G, Liu B, Bruening S et al. The serotonin1A receptor gene as a genetic and prenatal maternal environmental factor in anxiety. Proc. Natl Acad. Sci. USA 107(16), 7592-7597 (2010).
84. Walther DJ, Peter JU, Bashammakh S et al. Synthesis of serotonin by a second tryptophan hydroxylase isoform. Science 299(5603), 76 (2003). (Pubitemid 36042402)
85. Cote F, Fligny C, Bayard E et al. Maternal serotonin is crucial for murine embryonic development. Proc. Natl Acad. Sci. USA 104(1), 329-334 (2007). (Pubitemid 46068031)
86. McKinney J, Knappskog PM, Haavik J. Different properties of the central and peripheral forms of human tryptophan hydroxylase. J. Neurochem. 92(2), 311-320 (2005). (Pubitemid 40194022)
87. Savelieva KV, Zhao S, Pogorelov VM et al. Genetic disruption of both tryptophan hydroxylase genes dramatically reduces serotonin and affects behavior in models sensitive to antidepressants. PLoS One 3(10), E3301 (2008).
88. Halmoy A, Johansson S, Winge I, McKinney JA, Knappskog PM, Haavik J. Attention-deficit/hyperactivity disorder symptoms in offspring of mothers with impaired serotonin production. Arch. Gen. Psychiatry 67(10), 1033-1043 (2010).
89. Stefansson H, Rujescu D, Cichon S et al. Large recurrent microdeletions associated with schizophrenia. Nature 455(7210), 232-236 (2008).
90. McKinney JA, Turel B, Winge I, Knappskog PM, Haavik J. Functional properties of missense variants of human tryptophan hydroxylase 2. Hum. Mutat. 30(5), 787-794 (2009).
91. Winge I, McKinney JA, Knappskog PM, Haavik J. Characterization of wild-type and mutant forms of human tryptophan hydroxylase 2. J. Neurochem. 100(6), 1648-1657 (2007). (Pubitemid 46376200)
92. Wang L, Erlandsen H, Haavik J, Knappskog PM, Stevens RC. Three-dimensional structure of human tryptophan hydroxylase and its implications for the biosynthesis of the neurotransmitters serotonin and melatonin. Biochemistry 41(42), 12569-12574 (2002). (Pubitemid 35192485)
93. Baisden B, Sonne S, Joshi RM, Ganapathy V, Shekhawat PS. Antenatal dexamethasone treatment leads to changes in gene expression in a murine late placenta. Placenta 28(10), 1082-1090 (2007). (Pubitemid 47355230)
94. Bonnin A, Goeden N, Chen K et al. A transient placental source of serotonin for the fetal forebrain. Nature 472(7343), 347-350 (2011).
95. Pryce CR, Seifritz E. A translational research framework for enhanced validity of mouse models of psychopathological states in depression. Psychoneuroendocrinology 36(3), 308-329 (2011).
96. Nestler EJ, Hyman SE. Animal models of neuropsychiatric disorders. Nat. Neurosci. 13(10), 1161-1169 (2010).
97. The 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 467(7319), 1061-1073 (2010).
98. Mavroconstanti T, Winge I, McKinney JA, Knappskog PM, Haavik J. Functional studies of candidate genes involved in ADHD. Eur. Psychiatr. Rev. 3(1), 44-46 (2010).
99. Zeisel SH. Epigenetic mechanisms for nutrition determinants of later health outcomes. Am. J. Clin. Nutr. 89(5), 1488S-1493S (2009).
100. Kopsida E, Mikaelsson MA, Davies W. The role of imprinted genes in mediating susceptibility to neuropsychiatric disorders. Horm. Behav. 59(3), 375-382 (2011).
101. Murray C, Johnston C. Parenting in mothers with and without attention-deficit/hyperactivity disorder. J. Abnorm. Psychol. 115(1), 52-61 (2006).
102. Poelmans G, Pauls DL, Buitelaar JK, Franke B. Integrated genome-wide association study findings: identification of a neurodevelopmental network for attention deficit hyperactivity disorder. Am. J. Psychiatry 168(4), 365-377 (2011).
103. Sebat J, Lakshmi B, Malhotra D et al. Strong association of de novo copy number mutations with autism. Science 316(5823), 445-449 (2007). (Pubitemid 46651493)
104. Elia J, Gai X, Xie HM et al. Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol. Psychiatry 15(6), 637-646 (2010).
105. Williams NM, Zaharieva I, Martin A et al. Rare chromosomal deletions and duplications in attention-def?icit hyperactivity disorder: a genome-wide analysis. Lancet 376(9750), 1401-1408 (2010).
106. Kong A, Steinthorsdottir V, Masson G et al. Parental origin of sequence variants associated with complex diseases. Nature 462(7275), 868-874 (2009).
107. Innocenti P, Morrow EH, Dowling DK. Experimental evidence supports a sex-specific selective sieve in mitochondrial genome evolution. Science 332(6031), 845-848 (2011).
108. Rutter M. Understanding and testing risk mechanisms for mental disorders. J. Child Psychol. Psychiatry 50(1-2), 44-52 (2009).