Gene variants predisposing to SIDS: Current knowledge

Forensic Science, Medicine, and Pathology

Volumn 7, Issue 1, 2011, Pages 26-36

  Opdal, Siri H ^a,b   Rognum, Torleiv O ^a,b  

^a UNIVERSITY OF OSLO   (Norway)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

Genetics; Serotonin; SIDS; Sudden infant death

Indexed keywords

ATTITUDE TO HEALTH; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENETICS; HUMAN; INFANT; NEWBORN; REVIEW; RISK FACTOR; SUDDEN INFANT DEATH SYNDROME;

GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HEALTH KNOWLEDGE, ATTITUDES, PRACTICE; HUMANS; INFANT; INFANT, NEWBORN; RISK FACTORS; SUDDEN INFANT DEATH;

EID: 79651470563     PISSN: 1547769X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12024-010-9182-9     Document Type: Review

References (132)

1. Rognum TO, Saugstad OD. Biochemical and immunological studies in SIDS victims. Clues to understanding the death mechanism. Acta Paediatr Suppl. 1993; 82(Suppl 389): 82-5.
2. Filiano JJ, Kinney HC. A perspective on neuropathologic findings in victims of the sudden infant death syndrome: the triple-risk model. Biol Neonate. 1994; 65: 194-7.
3. Wang DW, Desai RR, Crotti L, Arnestad M, Insolia R, Pedrazzini M, et al. Cardiac sodium channel dysfunction in sudden infant death syndrome. Circulation. 2007; 115: 368-76.
4. Schoendorf KC, Kiely JL. Relationship of sudden infant death syndrome to maternal smoking during and after pregnancy. Pediatrics. 1992; 90: 905-8.
5. Markestad T, Skadberg B, Hordvik E, Morild I, Irgens LM. Sleeping position and sudden infant death syndrome (SIDS): effect of an intervention programme to avoid prone sleeping. Acta Paediatr. 1995; 84: 375-8.
6. Arnestad M, Andersen M, Vege A, Rognum TO. Changes in the epidemiological pattern of sudden infant death syndrome in southeast Norway, 1984-1998: implications for future prevention and research. Arch Dis Child. 2001; 85: 108-15.
7. Blair PS, Sidebotham P, Berry PJ, Evans M, Fleming PJ. Major epidemiological changes in sudden infant death syndrome: a 20-year population-based study in the UK. Lancet. 2006; 367: 314-9.
8. Stoltenberg L, Saugstad OD, Rognum TO. Sudden infant death syndrome victims show local immunoglobulin M response in tracheal wall and immunoglobulin A response in duodenal mucosa. Pediatr Res. 1992; 31: 372-5.
9. Thrane PS, Rognum TO, Brandtzaeg P. Up-regulated epithelial expression of HLA-DR and secretory component in salivary glands: reflection of mucosal immunostimulation in sudden infant death syndrome. Pediatr Res. 1994; 35: 625-8.
10. Vege A, Rognum TO. Sudden infant death syndrome, infection and inflammatory responses. FEMS Immunol Med Microbiol. 2004; 42: 3-10.
11. Vege A, Rognum TO, Scott H, Aasen AO, Saugstad OD. SIDS cases have increased levels of interleukin-6 in cerebrospinal fluid. Acta Paediatr. 1995; 84: 193-6.
12. Guntheroth WG. Interleukin-1 as intermediary causing prolonged sleep apnea and SIDS during respiratory infections. Med Hypotheses. 1989; 28: 121-3.
13. Vege A, Rognum TO, Anestad G. IL-6 cerebrospinal fluid levels are related to laryngeal IgA and epithelial HLA-DR response in sudden infant death syndrome. Pediatr Res. 1999; 45: 803-9.
14. Rognum IJ, Haynes RL, Vege A, Yang M, Rognum TO, Kinney HC. Interleukin-6 and the serotonergic system of the medulla oblongata in the sudden infant death syndrome. Acta Neuropathol. 2009; 118: 519-30.
15. Duncan JR, Paterson DS, Hoffman JM, Mokler DJ, Borenstein NS, Belliveau RA, et al. Brainstem serotonergic deficiency in sudden infant death syndrome. JAMA. 2010; 303: 430-7.
16. Mossner R, Daniel S, Schmitt A, Albert D, Lesch KP. Modulation of serotonin transporter function by interleukin-4. Life Sci. 2001; 68: 873-80.
17. Schneider PM, Wendler C, Riepert T, Braun L, Schacker U, Horn M, et al. Possible association of sudden infant death with partial complement C4 deficiency revealed by post-mortem DNA typing of HLA class II and III genes. Eur J Pediatr. 1989; 149: 170-4.
18. Opdal SH, Vege A, Stave AK, Rognum TO. The complement component C4 in sudden infant death. Eur J Pediatr. 1999; 158: 210-2.
19. Figueroa JE, Densen P. Infectious diseases associated with complement deficiencies. Clin Microbiol Rev. 1991; 4: 359-95.
20. Isenman DE, Young JR. Covalent binding properties of the C4A and C4B isotypes of the fourth component of human complement on several C1-bearing cell surfaces. J Immunol. 1986; 136: 2542-50.
21. Stray-Pedersen A, Vege A, Opdal SH, Moberg S, Rognum TO. Surfactant protein A and D gene polymorphisms and protein expression in victims of sudden infant death. Acta Paediatr. 2009; 98: 62-8.
22. Summers AM, Summers CW, Drucker DB, Hajeer AH, Barson A, Hutchinson IV. Association of IL-10 genotype with sudden infant death syndrome. Hum Immunol. 2000; 61: 1270-3.
23. Opdal SH, Opstad A, Vege A, Rognum TO. IL-10 gene polymorphisms are associated with infectious cause of sudden infant death. Hum Immunol. 2003; 64: 1183-9.
24. Moscovis SM, Gordon AE, Hall ST, Gleeson M, Scott RJ, Roberts-Thomsom J, et al. Interleukin 1-beta responses to bacterial toxins and sudden infant death syndrome. FEMS Immunol Med Microbiol. 2004; 42: 139-45.
25. Korachi M, Pravica V, Barson AJ, Hutchinson IV, Drucker DB. Interleukin 10 genotype as a risk factor for sudden infant death syndrome: determination of IL-10 genotype from wax-embedded postmortem samples. FEMS Immunol Med Microbiol. 2004; 42: 125-9.
26. Moscovis SM, Gordon AE, Al Madani OM, Gleeson M, Scott RJ, Roberts-Thomson J, et al. Interleukin-10 and sudden infant death syndrome. FEMS Immunol Med Microbiol. 2004; 42: 130-8.
27. Dashash M, Pravica V, Hutchinson IV, Barson AJ, Drucker DB. Association of sudden infant death syndrome with VEGF and IL-6 gene polymorphisms. Hum Immunol. 2006; 67: 627-33.
28. Moscovis SM, Gordon AE, Al Madani OM, Gleeson M, Scott RJ, Roberts-Thomson J, et al. IL6 G-174C associated with sudden infant death syndrome in a Caucasian Australian cohort. Hum Immunol. 2006; 67: 819-25.
29. Opdal SH, Rognum TO. The IL6-174G/C polymorphism and sudden infant death syndrome. Hum Immunol. 2007; 68: 541-3.
30. Ferrante L, Opdal SH, Vege A, Rognum TO. TNF-alpha promoter polymorphisms in sudden infant death. Hum Immunol. 2008; 69: 368-73.
31. Perskvist N, Skoglund K, Edston E, Backstrom G, Lodestad I, Palm U. TNF-alpha and IL-10 gene polymorphisms versus cardioimmunological responses in sudden infant death. Fetal Pediatr Pathol. 2008; 27: 149-65.
32. Highet AR, Berry AM, Goldwater PN. Distribution of interleukin-1 receptor antagonist genotypes in sudden unexpected death in infancy (SUDI); unexplained SUDI have a higher frequency of allele 2. Ann Med. 2010; 42: 64-9.
33. Ferrante L, Opdal SH, Vege A, Rognum TO. IL-1 gene cluster polymorphisms and sudden infant death syndrome. Hum Immunol. 2010; 71: 402-6.
34. Ferrante L, Opdal SH, Vege A, Rognum TO. Cytokine gene polymorphisms and sudden infant death syndrome. Acta Paediatr 2010; (in press).
35. Reuss E, Fimmers R, Kruger A, Becker C, Rittner C, Hohler T. Differential regulation of interleukin-10 production by genetic and environmental factors-a twin study. Genes Immun. 2002; 3: 407-13.
36. Witkin SS, Gerber S, Ledger WJ. Influence of interleukin-1 receptor antagonist gene polymorphism on disease. Clin Infect Dis. 2002; 34: 204-9.
37. Rivera-Chavez FA, Peters-Hybki DL, Barber RC, O'Keefe GE. Interleukin-6 promoter haplotypes and interleukin-6 cytokine responses. Shock. 2003; 20: 218-23.
38. Hohjoh H, Tokunaga K. Allele-specific binding of the ubiquitous transcription factor OCT-1 to the functional single nucleotide polymorphism (SNP) sites in the tumor necrosis factor-alpha gene (TNFA) promoter. Genes Immun. 2001; 2: 105-9.
39. Virchow S, Ansorge N, Rosskopf D, Rubben H, Siffert W. The G protein beta3 subunit splice variant Gbeta3-s causes enhanced chemotaxis of human neutrophils in response to interleukin-8. Naunyn Schmiedebergs Arch Pharmacol. 1999; 360: 27-32.
40. Rosskopf D, Koch K, Habich C, Geerdes J, Ludwig A, Wilhelms S, et al. Interaction of Gbeta3 s, a splice variant of the G-protein Gbeta3, with Ggamma- and Galpha-proteins. Cell Signal. 2003; 15: 479-88.
41. Opdal SH, Melien O, Rootwelt H, Vege A, Arnestad M, Rognum T. The G protein beta3 subunit 825C allele is associated with sudden infant death due to infection. Acta Paediatr. 2006; 95: 1129-32.
42. Schwartz PJ, Priori SG, Bloise R, Napolitano C, Ronchetti E, Piccinini A, et al. Molecular diagnosis in a child with sudden infant death syndrome. Lancet. 2001; 358: 1342-3.
43. Piippo K, Swan H, Pasternack M, Chapman H, Paavonen K, Viitasalo M, et al. A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics. J Am Coll Cardiol. 2001; 37: 562-8.
44. Ackerman MJ, Siu BL, Sturner WQ, Tester DJ, Valdivia CR, Makielski JC, et al. Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA. 2001; 286: 2264-9.
45. Wedekind H, Smits JP, Schulze-Bahr E, Arnold R, Veldkamp MW, Bajanowski T, et al. De novo mutation in the SCN5A gene associated with early onset of sudden infant death. Circulation. 2001; 104: 1158-64.
46. Bajanowski T, Rossi L, Biondo B, Ortmann C, Haverkamp W, Wedekind H, et al. Prolonged QT interval and sudden infant death-report of two cases. Forensic Sci Int. 2001; 115: 147-53.
47. Christiansen M, Tonder N, Larsen LA, Andersen PS, Simonsen H, Oyen N, et al. Mutations in the HERG K+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome. Am J Cardiol. 2005; 95: 433-4.
48. Arnestad M, Vege A, Rognum TO, Isaksen CV. Sudden infant death syndrome not caused by Norwegian Jervell and Lange-Nielsen mutations. Am J Med Genet A. 2005; 134: 459-60.
49. Plant LD, Bowers PN, Liu Q, Morgan T, Zhang T, State MW, et al. A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. J Clin Invest. 2006; 116: 430-5.
50. Wedekind H, Bajanowski T, Friederich P, Breithardt G, Wulfing T, Siebrands C, et al. Sudden infant death syndrome and long QT syndrome: an epidemiological and genetic study. Int J Legal Med. 2006; 120: 129-37.
51. Arnestad M, Crotti L, Rognum TO, Insolia R, Pedrazzini M, Ferrandi C, et al. Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007; 115: 361-7.
52. van Norstrand DW, Tester DJ, Ackerman MJ. Overrepresentation of the proarrhythmic, sudden death predisposing sodium channel polymorphism S1103Y in a population-based cohort of African-American sudden infant death syndrome. Heart Rhythm. 2008; 5: 712-5.
53. Turillazzi E, La Rocca G, Anzalone R, Corrao S, Neri M, Pomara C, et al. Heterozygous nonsense SCN5A mutation W822X explains a simultaneous sudden infant death syndrome. Virchows Arch. 2008; 453: 209-16.
54. Millat G, Kugener B, Chevalier P, Chahine M, Huang H, Malicier D, et al. Contribution of long-QT syndrome genetic variants in sudden infant death syndrome. Pediatr Cardiol. 2009; 30: 502-9.
55. Otagiri T, Kijima K, Osawa M, Ishii K, Makita N, Matoba R, et al. Cardiac ion channel gene mutations in sudden infant death syndrome. Pediatr Res. 2008; 64: 482-7.
56. Tester DJ, Dura M, Carturan E, Reiken S, Wronska A, Marks AR, et al. A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors. Heart Rhythm. 2007; 4: 733-9.
57. van Norstrand DW, Valdivia CR, Tester DJ, Ueda K, London B, Makielski JC, et al. Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome. Circulation. 2007; 116: 2253-9.
58. Cronk LB, Ye B, Kaku T, Tester DJ, Vatta M, Makielski JC, et al. Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. Heart Rhythm. 2007; 4: 161-6.
59. Aarnoudse AJ, Newton-Cheh C, de Bakker PI, Straus SM, Kors JA, Hofman A, et al. Common NOS1AP variants are associated with a prolonged QTc interval in the Rotterdam Study. Circulation. 2007; 116: 10-6.
60. Osawa M, Kimura R, Hasegawa I, Mukasa N, Satoh F. SNP association and sequence analysis of the NOS1AP gene in SIDS. Leg Med (Tokyo). 2009; 11(Suppl 1): S307-8.
61. Cheng J, van Norstrand DW, Medeiros-Domingo A, Valdivia C, Tan BH, Ye B, et al. Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current. Circ Arrhythm Electrophysiol. 2009; 2: 667-76.
62. Kinney HC, Richerson GB, Dymecki SM, Darnall RA, Nattie EE. The brainstem and serotonin in the sudden infant death syndrome. Annu Rev Pathol. 2009; 4: 517-50.
63. Paterson DS, Hilaire G, Weese-Mayer DE. Medullary serotonin defects and respiratory dysfunction in sudden infant death syndrome. Respir Physiol Neurobiol. 2009; 168: 133-43.
64. Weese-Mayer DE, Berry-Kravis EM, Maher BS, Silvestri JM, Curran ME, Marazita ML. Sudden infant death syndrome: association with a promoter polymorphism of the serotonin transporter gene. Am J Med Genet. 2003; 117A: 268-74.
65. Narita N, Narita M, Takashima S, Nakayama M, Nagai T, Okado N. Serotonin transporter gene variation is a risk factor for sudden infant death syndrome in the Japanese population. Pediatrics. 2001; 107: 690-2.
66. Opdal SH, Vege A, Rognum TO. Serotonin transporter gene variation in sudden infant death syndrome. Acta Paediatr. 2008; 97: 861-5.
67. Nonnis Marzano F, Maldini M, Filonzi L, Lavezzi AM, Parmigiani S, Magnani C, et al. Genes regulating the serotonin metabolic pathway in the brain stem and their role in the etiopathogenesis of the sudden infant death syndrome. Genomics. 2008; 91: 485-91.
68. Paterson DS, Trachtenberg FL, Thompson EG, Belliveau RA, Beggs AH, Darnall R, et al. Multiple serotonergic brainstem abnormalities in sudden infant death syndrome. Jama. 2006; 296: 2124-32.
69. Haas C, Braun J, Bar W, Bartsch C. No association of serotonin transporter gene variation with sudden infant death syndrome (SIDS) in Caucasians. Leg Med (Tokyo). 2009; 11(Suppl 1): 210-2.
70. Weese-Mayer DE, Zhou L, Berry-Kravis EM, Maher BS, Silvestri JM, Marazita ML. Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis. Am J Med Genet. 2003; 122A: 238-45.
71. Lavezzi AM, Casale V, Oneda R, Weese-Mayer DE, Matturri L. Sudden infant death syndrome and sudden intrauterine unexplained death: correlation between hypoplasia of raphe nuclei and serotonin transporter gene promoter polymorphism. Pediatr Res. 2009; 66: 22-7.
72. Maher BS, Marazita ML, Rand C, Zhou L, Berry-Kravis EM, Weese-Mayer DE. 3′ UTR polymorphism of the serotonin transporter gene and sudden infant death syndrome: haplotype analysis. Am J Med Genet A. 2006; 140: 1453-7.
73. Rand CM, Berry-Kravis EM, Fan W, Weese-Mayer DE. HTR2A variation and sudden infant death syndrome: a case-control analysis. Acta Paediatr. 2009; 98: 58-61.
74. Morley ME, Rand CM, Berry-Kravis EM, Zhou L, Fan W, Weese-Mayer DE. Genetic variation in the HTR1A gene and sudden infant death syndrome. Am J Med Genet A. 2008; 146: 930-3.
75. Rand CM, Berry-Kravis EM, Zhou L, Fan W, Weese-Mayer DE. Sudden infant death syndrome: rare mutation in the serotonin system FEV gene. Pediatr Res. 2007; 62: 180-2.
76. Broadbelt KG, Barger MA, Paterson DS, Holm IA, Haas EA, Krous HF, et al. Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population. Pediatr Res. 2009; 66: 631-5.
77. Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Curran ME, Silvestri JM, et al. Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. Pediatr Res. 2004; 56: 391-5.
78. Cummings KJ, Klotz C, Liu WQ, Weese-Mayer DE, Marazita ML, Cooper ME, et al. Sudden infant death syndrome (SIDS) in African Americans: polymorphisms in the gene encoding the stress peptide pituitary adenylate cyclase-activating polypeptide (PACAP). Acta Paediatr. 2009; 98: 482-9.
79. Kijima K, Sasaki A, Niki T, Umetsu K, Osawa M, Matoba R, et al. Sudden infant death syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndrome. Tohoku J Exp Med. 2004; 203: 65-8.
80. Rand CM, Weese-Mayer DE, Zhou L, Maher BS, Cooper ME, Marazita ML, et al. Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene. Am J Med Genet A. 2006; 140: 1687-91.
81. Puffenberger EG, Hu-Lince D, Parod JM, Craig DW, Dobrin SE, Conway AR, et al. Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. Proc Natl Acad Sci USA. 2004; 101: 11689-94.
82. Hering R, Frade-Martinez R, Bajanowski T, Poets CF, Tschentscher F, Riess O. Genetic investigation of the TSPYL1 gene in sudden infant death syndrome. Genet Med. 2006; 8: 55-8.
83. Aranda FJ, Teixeira F, Becker LE. Assessment of growth in sudden infant death syndrome. Neuroepidemiology. 1990; 9: 95-105.
84. Kadhim H, Sebire G, Khalifa M, Evrard P, Groswasser J, Franco P, et al. Incongruent cerebral growth in sudden infant death syndrome. J Child Neurol. 2005; 20: 244-6.
85. Opdal SH, Vege A, Stray-Pedersen A, Rognum TO. Aquaporin-4 gene variation and sudden infant death syndrome. Pediatr Res 2010; 68: 48-51.
86. Klintschar M, Reichenpfader B, Saternus KS. A functional polymorphism in the tyrosine hydroxylase gene indicates a role of noradrenalinergic signaling in sudden infant death syndrome. J Pediatr. 2008; 153: 190-3.
87. Zhang L, Rao F, Wessel J, Kennedy BP, Rana BK, Taupenot L, et al. Functional allelic heterogeneity and pleiotropy of a repeat polymorphism in tyrosine hydroxylase: prediction of catecholamines and response to stress in twins. Physiol Genomics. 2004; 19: 277-91.
88. Wiemann M, Frede S, Tschentscher F, Kiwull-Schone H, Kiwull P, Bingmann D, et al. NHE3 in the human brainstem: implication for the pathogenesis of the sudden infant death syndrome (SIDS)? Adv Exp Med Biol. 2008; 605: 508-13.
89. Poetsch M, Nottebaum BJ, Wingenfeld L, Frede S, Vennemann M, Bajanowski T. Impact of sodium/proton exchanger 3 gene variants on sudden infant death syndrome. J Pediatr 2010; 156: 44-8.
90. Miller M, Brooks J, Forbes N, Insel R. Frequency of G-985 mutation in medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency in sudden infant death syndrome (SIDS). Prog Clin Biol Res. 1992; 375: 495-8.
91. Arens R, Gozal D, Jain K, Muscati S, Heuser ET, Williams JC, et al. Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome. J Pediatr. 1993; 122(5 Pt 1): 715-8.
92. Lundemose JB, Gregersen N, Kolvraa S, Norgaard Pedersen B, Gregersen M, Helweg-Larsen K, et al. The frequency of a disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase in sudden infant death syndrome. Acta Paediatr. 1993; 82: 544-6.
93. Dundar M, Lanyon WG, Connor JM. Scottish frequency of the common G985 mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene and the role of MCAD deficiency in sudden infant death syndrome (SIDS). J Inherit Metab Dis. 1993; 16: 991-3.
94. Penzien JM, Molz G, Wiesmann UN, Colombo JP, Buhlmann R, Wermuth B. Medium-chain acyl-CoA dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome: results from phenylpropionate loading tests and DNA analysis. Eur J Pediatr. 1994; 153: 352-7.
95. Opdal SH, Vege A, Saugstad OD, Rognum TO. Is the medium-chain acyl-CoA dehydrogenase G985 mutation involved in sudden infant death in Norway? Eur J Pediatr. 1994; 154: 166-7.
96. Santer R, Gregersen N, Tanaka K, Hinck-Kneip C, Krawinkel M, Schaub J. The prevalence of the G985 allele of medium-chain acyl-CoA dehydrogenase deficiency among sudden infant death victims and healthy newborns in northern Germany. Eur J Pediatr. 1995; 154: 497.
97. Lecoq I, Mallet E, Bonte JB, Travert G. The A985 to G mutation of the medium-chain acyl-CoA dehydrogenase gene and sudden infant death syndrome in Normandy. Acta Paediatr. 1996; 85: 145-7.
98. Boles RG, Buck EA, Blitzer MG, Platt MS, Cowan TM, Martin SK, et al. Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life. J Pediatr. 1998; 132: 924-33.
99. Ryan A, McGill J, Mountain H. Rapid testing for the MCAD G583A mutation, by PCR-mediated site directed mutagenesis, in an Australian population of SIDS patients. Dis Markers. 1997; 13: 131-4.
100. Korman SH, Gutman A, Brooks R, Sinnathamby T, Gregersen N, Andresen BS. Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status. Mol Genet Metab. 2004; 82: 121-9.
101. Melegh B, Bene J, Mogyorosy G, Havasi V, Komlosi K, Pajor L, et al. Phenotypic manifestations of the OCTN2 V295X mutation: sudden infant death and carnitine-responsive cardiomyopathy in Roma families. Am J Med Genet A. 2004; 131: 121-6.
102. Becher JC, Keeling JW, Bell J, Wyatt B, McIntosh N. Apolipoprotein E e4 and its prevalence in early childhood death due to sudden infant death syndrome or to recognised causes. Early Hum Dev. 2008; 84: 549-54.
103. Forsyth L, Hume R, Howatson A, Busuttil A, Burchell A. Identification of novel polymorphisms in the glucokinase and glucose-6-phosphatase genes in infants who died suddenly and unexpectedly. J Mol Med. 2005; 83: 610-8.
104. Forsyth L, Scott HM, Howatson A, Busuttil A, Hume R, Burchell A. Genetic variation in hepatic glucose-6-phosphatase system genes in cases of sudden infant death syndrome. J Pathol. 2007; 212: 112-20.
105. Kahn A, Groswasser J, Rebuffat E, Sottiaux M, Blum D, Foerster M, et al. Sleep and cardiorespiratory characteristics of infant victims of sudden death: a prospective case-control study. Sleep. 1992; 15: 287-92.
106. Andersen M, Arnestad M, Rognum TO, Vege A. Cot death in eastern part of Norway 1984-92. Tidsskr Nor Laegeforen. 1995; 115: 34-7.
107. Kelmanson IA. An assessment of behavioural characteristics in infants who died of sudden infant death syndrome using the Early Infancy Temperament Questionnaire. Acta Paediatr. 1996; 85: 977-80.
108. Hofmann S, Jaksch M, Bezold R, Mertens S, Aholt S, Paprotta A, et al. Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease. Hum Mol Genet. 1997; 6: 1835-46.
109. Opdal SH, Rognum TO, Vege A, Stave AK, Dupuy BM, Egeland T. Increased number of substitutions in the D-loop of mitochondrial DNA in the sudden infant death syndrome. Acta Paediatr. 1998; 87: 1039-44.
110. Santorelli FM, Schlessel JS, Slonim AE, DiMauro S. Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death. Pediatr Neurol. 1996; 15: 145-9.
111. Ogle RF, Christodoulou J, Fagan E, Blok RB, Kirby DM, Seller KL, et al. Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin. J Pediatr. 1997; 130: 138-45.
112. Opdal SH, Rognum TO, Torgersen H, Vege A. Mitochondrial DNA point mutations detected in four cases of sudden infant death syndrome. Acta Paediatr. 1999; 88: 957-60.
113. Opdal SH, Vege Å, Egeland T, Musse MA, Rognum TO. Possible role of mtDNA mutations in sudden infant death. Pediatr Neurol. 2002; 27: 23-9.
114. Arnestad M, Opdal SH, Musse MA, Vege A, Rognum TO. Are substitutions in the first hypervariable region of the mitochondrial DNA displacement-loop in sudden infant death syndrome due to maternal inheritance? Acta Paediatr. 2002; 91: 1060-4.
115. Divne AM, Råsten-Almqvist P, Rajs J, Gyllensten U, Allen M. Analysis of the mitochondrial genome in the sudden infant death syndrome. Acta Paediatr. 2003; 92: 386-8.
116. Arnestad M, Opdal SH, Vege A, Rognum TO. A mitochondrial DNA polymorphism associated with cardiac arrhythmia investigated in sudden infant death syndrome. Acta Paediatr. 2007; 96: 206-10.
117. Opdal SH, Vege A, Arnestad M, Musse MA, Rognum TO. Mitochondrial tRNA genes and flanking regions in sudden infant death syndrome. Acta Paediatr. 2007; 96: 211-4.
118. Stanton AN. Sudden infant death. Overheating and cot death. Lancet. 1984; 2: 1199-201.
119. Sawczenko A, Fleming PJ. Thermal stress, sleeping position, and the sudden infant death syndrome. Sleep. 1996; 19: S267-70.
120. Rahim RA, Boyd PA, Ainslie Patrick WJ, Burdon RH. Human heat shock protein gene polymorphisms and sudden infant death syndrome. Arch Dis Child. 1996; 75: 451-2.
121. Fatemi A, Item C, Stockler-Ipsiroglu S, Ipsiroglu O, Sperl W, Patsch W, et al. Sudden infant death: no evidence for linkage to common polymorphisms in the uncoupling protein-1 and the beta3-adrenergic receptor genes. Eur J Pediatr. 2002; 161: 337-9.
122. Bross P, Li Z, Hansen J, Hansen JJ, Nielsen MN, Corydon TJ, et al. Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential. J Hum Genet. 2007; 52: 56-65.
123. Ishibe N, Wiencke JK, Zuo ZF, McMillan A, Spitz M, Kelsey KT. Susceptibility to lung cancer in light smokers associated with CYP1A1 polymorphisms in Mexican- and African-Americans. Cancer Epidemiol Biomarkers Prev. 1997; 6: 1075-80.
124. Bartsch H, Nair U, Risch A, Rojas M, Wikman H, Alexandrov K. Genetic polymorphism of CYP genes, alone or in combination, as a risk modifier of tobacco-related cancers. Cancer Epidemiol Biomarkers Prev. 2000; 9: 3-28.
125. Wang X, Zuckerman B, Pearson C, Kaufman G, Chen C, Wang G, et al. Maternal cigarette smoking, metabolic gene polymorphism, and infant birth weight. JAMA. 2002; 287: 195-202.
126. Rand CM, Weese-Mayer DE, Maher BS, Zhou L, Marazita ML, Berry-Kravis EM. Nicotine metabolizing genes GSTT1 and CYP1A1 in sudden infant death syndrome. Am J Med Genet A. 2006; 140: 1447-52.
127. Poetsch M, Czerwinski M, Wingenfeld L, Vennemann M, Bajanowski T. A common FMO3 polymorphism may amplify the effect of nicotine exposure in sudden infant death syndrome (SIDS). Int J Legal Med 2010; (in press).
128. Koukouritaki SB, Hines RN. Flavin-containing monooxygenase genetic polymorphism: impact on chemical metabolism and drug development. Pharmacogenomics. 2005; 6: 807-22.
129. Toruner GA, Kurvathi R, Sugalski R, Shulman L, Twersky S, Pearson PG, et al. Copy number variations in three children with sudden infant death. Clin Genet. 2009; 76: 63-8.
130. Opdal SH, Rognum TO. The sudden infant death syndrome gene: does it exist? Pediatrics. 2004; 114: e506-12.
131. Hunt CE, Hauck FR. Sudden infant death syndrome. CMAJ. 2006; 174: 1861-9.
132. Weese-Mayer DE, Ackerman MJ, Marazita ML, Berry-Kravis EM. Sudden Infant Death Syndrome: review of implicated genetic factors. Am J Med Genet A. 2007; 143A: 771-88.