Abstract
Sequencing of the human genome has resulted in a rapidly expanding understanding of the molecular basis of many human diseases and the incredible complexity of genotype-phenotype relationships.1-5 Some genes are expressed only in healthy individuals or in disease conditions, only at specified ages, or in response to specific perturbations or states (e.g., sleep). Some genes, thus contribute to susceptibility to disease, but other genes and their polymorphisms contribute to protection against illness.
“All illnesses have some hereditary contribution. Genetics loads the gun and environment pulls the trigger”
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Guttmacher AE, Collins FS. Welcome to the genomic era. N Engl J Med. 2003;349(10):996-998
The International HapMap Consortium. The International HapMap Project. Nature. 2003;426:789-796
Hunt CE. Sudden infant death syndrome and other causes of infant mortality: diagnosis, mechanisms and risk for recurrence in siblings. Am J Respir Crit Care Med. 2001;164:346-357
Hunt CE. Gene-environment interactions: implications for sudden unexpected deaths in infancy. Arch Dis Childhood. 2005;90:48-53
Hunt CE, Hauck FR. Sudden infant death syndrome. Can Med Assoc J. 2006;174:1861-1869
Tiret L. Gene-environment interaction: a central concept in multifactorial diseases. Proc Nutr Soc. 2002;61:457-463
Hall JG. Epigenetics is here to stay. J Pediatr. 2005;147:427-428
Willinger M, James LS, Catz C. Defining the sudden infant death syndrome (SIDS): deliberations of an expert panel convened by the National Institute of Child Health and Human Development. Pediatr Pathol. 1991;11:677-684
Kung HC, Hoyert DL, Xu JQ, Murphy SL. Deaths: final data for 2005 National vital statistics reports. Vol 56 No 10. Hyattsville, MD: National Center for Health Statistics; 2008
Kung HC, Hoyert DC, Xu J, Murphy SL. Centers for Disease Control and Prevention NCHS. Deaths: final data for 2005. Natl Vital Stat Rep. 2008; Vol 56 No 10. 1-120)
Malloy MH, MacDorman M. Changes in the classification of sudden unexpected infant deaths: United States, 1992-2001 Pediatrics. 2005;115:1247-1253
Shapiro-Mendoza CK, Tomashek KM, Anderson RN, Wingo J. Recent national trends in sudden, unexpected infant deaths: more evidence supporting a change in classification or reporting. Am J Epidemiol. 2006;163:762-769
Weese-Mayer DE, Ackerman MJ, Marazita ML, Berry-Kravis EM. Sudden infant death syndrome: review of implicated genetic factors. Am J Med Genetics. 2007;143A:771-788
Schwartz PF, Priori SG, Dumaine R, et al. A molecular link between SIDS and the long-QT syndrome. NEJM. 2000;343:262-267
Christiansen M, Tender N, Larsen LA, et al. Mutations in the HERG+ −ion channel: a novel link between long QT syndrome and sudden infant death syndrome. Am J Card. 2005;95:433-434
Schwartz PJ, Priori SG, Bloise R, et al. Molecular diagnosis in a child with sudden infant death syndrome. Lancet. 2001;358:1342-1343
Tester DJ, Ackerman MJ. Sudden infant death syndrome: how significant are the cardiac channelopathies? Cardiovasc Res. 2005;67:388-396
Ackerman MJ. Unmasking concealed long QT syndrome. Heart Rhythm. 2008;75:8-10
Schwartz PJ. The quest for the mechanism of the sudden infant death syndrome: doubts and progress. Circulation. 1987;75:677-683
Arnestad M, Crotti L, Rognum TO, et al. Prevalence of long-QT syndrome gene variants in SIDS. Circulation. 2007;115:361-367
Wang DW, Desai RR, Crotti L, et al. Cardiac sodium channel dysfunction in SIDS. Circulation. 2007;115:368-376
Plant LD, Bowers PN, Liu Q, et al. A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. J Clin Invest. 2006;116:430-435
Van Norstrand DW, Valdivia CR, Tester DJ, 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;116:2253-2259
Cronk LB, Ye B, Kaku T, et al. Novel mechanisms for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. Heart Rhythm. 2007;4:161-166
Medeiros-Domingo A, Kaku T, Tester DJ, et al. Sodium channel B4 subunit (SCH4B) mutation causes congenital long QT syndrome. Circulation. 2007;116:134-142
Tester DJ, Dura M, Carturan E, et al. A mechanism for sudden infant death syndrome (SIDS): Stress-induced leak via ryanodine receptors. Heart Rhythm. 2007;4:733-739
Giustetto C, Di Monte F, Wolpert C, et al. Short QT syndrome: clinical findings and diagnostic-therapeutic implications. Eur Heart J. 2006;27:2440-2447
Rhodes TE, Crotti L, Arnestad M, et al. Gain of function KCNQ1 mutation associated with SIDS (Abstract). Heart Rhythm. 2006;3:S2
Paterson DS, Trachtenberg FL, Thompson EG, et al. Multiple serotonergic brainstem abnormalities in SIDS. JAMA. 2006;296:2124-2132
Narita N, Narita M, Takashima S, et al. Serotonin transporter gene variation is a risk factor for sudden infant death syndrome in the Japanese population. Pediatrics. 2001; 107(4):690-692
Weese-Mayer DE, Berry-Kravis EM, Maher BS, et al. Sudden infant death syndrome: association with a promoter polymorphism of the serotonin transporter gene. Am J Med Genet. 2003;117A:268-274
Weese-Mayer DE, Zhou L, Berry-Kravis EM, et al. Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis. Am J Med Genet. 2003;122A:238-245
Rand CM, Berry-Kravis EM, Zhou L, et al. Sudden infant death syndrome: rare mutation in the serotonin system FEV gene. Pediatr Res. 2007;62:180-182
Weese-Mayer DE, Berry-Kravis EM, Zhou L, et al. Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. Pediatr Res. 2004;56:391-395
Opdal SH, Vege A, Stave AK, Rognum TO. The complement component C4 in sudden infant death. Eur J Pediatr. 1999;158:210-212
Summers AM, Summers CW, Drucker DB, et al. Association of IL-10 genotype with sudden infant death syndrome. Hum Immunol. 2000;61:1270-1273
Opdal SH, Opstad A, Vege A, Rognum TO. IL-10 gene polymorphisms are associated with infectious cause of sudden infant death. Hum Immunol. 2003;64:1183-89
Dashash M, Pravica V, Hutchinson IV, et al. Association of SIDS with VEGF and IL-6 gene polymorphisms. Hum Immunol. 2006;67:627-633
Moscovis SM, Gordon AE, Al Madani OM, et al. IL6 G-174C associated with sudden infant death syndrome in a Caucasian Australian cohort. Hum Immunol. 2006;67:819-825
Jones KL, Krous HF, Nadeau J, et al. Vascular endothelial growth factor in the cerebrospinal fluid of infants who died of sudden infant death syndrome: evidence for antecedent hypoxia. Pediatrics. 2003;111(2):358-363
Vege A, Rognum TO, Aasen AO, Saugstad OD. SIDS cases have increased levels of interleukin-6 in cerebrospinal fluid. Acta Paediatr. 1995;84:193-196
Opdal SH, Rognum TO. The IL6-174G/C polymorphism and sudden infant death syndrome. Hum Immunol. 2007;68:541-543
Opdal SH, Vege A, Arnestad M, et al. Mitochondrial tRNA genes and flanking regions in sudden infant death syndrome. Acta Pediatr. 2007;96:211-214
Arnestad M, Opdal SH, Vege A, Rognum TO. A mitochondrial DNA polymorphism associated with cardiac arrhythmia investigated in sudden infant death syndrome. Acta Pediatr. 2007;96:206-210
Forsyth L, Hume R, Howatson A, et al. Identification of novel polymorphisms in the glucokinase and glucose-6-phosphatase genes in infants who died suddenly and unexpectedly. J Mol Med. 2005;83:610-618
Brooke H, Gibson A, Tappin D, Brown H. Case-control study of sudden infant death syndrome in Scotland, 1992-5. Br Med J. 1997;314:1516-1520
Hoffman HJ, Hillman LS. Epidemiology of the sudden infant death syndrome: prenatal, neonatal, and postneonatal risk factors. Clin Perinatol. 1992;19:717-737
Vennemann MMT, Findeisen M, Butterfass-Bahloul T, et al. Modifiable risk factors for SIDS in Germany: results of GeSID. Acta Paediatr. 2005;94:655-660
Alm B, Norvenius SG, Wennergren G, et al. Changes in the epidemiology of sudden infant death syndrome in Sweden 1973-1996 Arch Dis Child. 2001;84:24-30
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;85:108-115
Mitchell EA. The changing epidemiology of SIDS following the national risk reduction campaigns. Pediatr Pulmonol (Suppl). 1997;16:117-119
Douglas AS, Allan TM, Helms PJ. Seasonality and the sudden infant death syndrome during 1987-9 and 1991-3 in Australia and Britain. Br Med J. 1996;312:1381-1383
Hauck FR. Changing epidemiology. In: Byard RW, Krous HF, eds. Sudden infant death syndrome. Problems, progress and possibilities. London: Arnold; 2004:31-57
Perez-Stable EJ, Herrera B, Jacob P 3rd, Benowitz NI. Nicotine metabolism and intake in black and white smokers. JAMA. 1998;280:152-156
Dalveit AK, Oyen N, Skjaerven R, Irgens LM. The epidemic of SIDS in Norway 1967-93: changing effects of risk factors. Arch Dis Child. 1997;77:23-27
Blair PS, Sidebotham P, Berry PJ, et al. Major epidemiological changes in sudden infant death syndrome: a 20-year population-based study in the UK. Published online January 18, 2006 DOI: 10.1016/S0140-6736(06)67968-3.1
Pickett KE, Luo Y, Lauderdale DS. Widening social inequalities in risk for sudden infant death syndrome. Am J Public Health. 2005;95:1976-1981
Hauck FR, Moore CM, Herman SM, et al. The contribution of prone sleeping position to the racial disparity in sudden infant death syndrome: the Chicago Infant Mortality Study. Pediatrics. 2002;110:772-780
Carpenter RG, Irgens LM, Blair PS, et al. Sudden unexplained infant death in 20 regions in Europe: case control study. Lancet. 2004;363:185-191
Howard LM, Kirkwood G, Latinovic R. Sudden infant death syndrome and maternal depression. J Clin Psychiatry. 2007;68:1279-1283
King-Hele SA, Abel KM, Webb RT, Mortensen PB, Appleby L, Pickles AR. Risk of sudden infant death syndrome with parental mental illness. Arch Gen Psychiatry. 2007;64:1323-1330
Mitchell EA, Milerad J. Smoking and the sudden infant death syndrome. Rev Environ Health. 2006;223:81-103
Schellscheidt J, Øyen N, Jorch G. Interactions between maternal smoking and other prenatal risk factors for sudden infant death syndrome (SIDS). Acta Paediatr. 1997;86:857-863
Golding J. Sudden infant death syndrome and parental smoking - a literature review. Paediatr Perinat Epidemiol. 1997;11:67-77
Anderson HR, Cook DG. Passive smoking and sudden infant death syndrome: review of the epidemiological evidence. Thorax. 1999;52:1003-1009
Schoendorf KC, Kiely JL. Relationship of sudden infant death syndrome to maternal smoking during and after pregnancy. Pediatrics. 1992;90:905-908
Klonoff-Cohen HS, Edelstein SL, Lefkowitz ES, et al. The effect of passive smoking and tobacco exposure through breast milk on sudden infant death syndrome. JAMA. 1995;273:795-798
Blair PS, Fleming PJ, Bensley D, et al. Smoking and the sudden infant death syndrome: results from the 1993-5 case-control inquiry into stillbirths and deaths in infancy. Br Med J. 1996;313:195-198
Hoffman HJ, Damus K, Hillman L, Krongrad E. Risk factors for SIDS: results of the National Institute of Child Health and Human Development SIDS Cooperative Epidemiological Study. Ann NY Acad Sci. 1988;533:13-30
Ward SLD, Bautista D, Chan L, et al. Sudden infant death syndrome in infants of substance-abusing mothers. J Pediatr. 1990;117:876-881
Chavez CJ, Ostrea EM, Stryker JC, Smialek J. Sudden infant death syndrome among infants of drug-dependent mothers. J Pediatr. 1979;95:407-409
Kandall SR, Gaines J, Habel L, Davidson G, Jessop D. Relationship of maternal substance abuse to subsequent sudden infant death syndrome in offspring. J Pediatr. 1993;123:120-126
Iyasu S, Randall LL, Welty TK, et al. Risk factors for sudden infant death syndrome among northern plains Indians. JAMA. 2002;288:2717-2723
L’Hoir MP, Engelberts AC, van Well GTHJ, et al. Case-control study of current validity of previously described risk factors for SIDS in The Netherlands. Arch Dis Child. 1998;79:386-393
Burd L, Klug MG, Martsolf JT. Increased sibling mortality in children with fetal alcohol syndrome. Addict Biol. 2004;9:179-186
Task Force on Sudden Infant Death Syndrome. The changing concept of sudden infant death syndrome: diagnostic coding shifts, controversies regarding the sleeping environment, and new variables to consider in reducing risk. Pediatrics. 2005;116:1245-1255
Markestad T, Skadberg B, Hordvik E, et al. Sleeping position and sudden infant death syndrome (SIDS): effect of an intervention programme to avoid prone sleeping. Acta Paediatr. 1995;84:375-378
Li DK, Petitti DB, Willinger M, et al. Infant sleeping position and the risk of sudden infant death syndrome in California, 1997-2000 Am J Epidemiol. 2003;157:446-455
Stastny PF, Ichinose TY, Thayer SD, et al. Infant sleep positioning by nursery staff and mothers in newborn hospital nurseries. Nurs Res. 2004;53:122-129
Henderson-Smart DJ, Ponsonby A-L, Murphy E. Reducing the risk of sudden infant death syndrome: a review of the scientific literature. J Paediatr Child Health. 1998;34:213-219
Ponsonby AL, Dwyer T, Couper D. Sleeping position, infant apnea, and cyanosis: a population-based study. Pediatrics [serial online]. 1997;99e3. Available at: http://www.pediatrics.org/cgi/content/full/99/1/e3; 2003 Accessed 04.02.03
Hunt CE, Lesko SM, Vezina RM, et al. Infant sleep position and associated health outcomes. Arch Pediatr Adolesc Med. 2003;157:469-474
Brooke H, Gibson A, Tappin D, Brown H. Case-control study of sudden infant death syndrome in Scotland, 1992-5. BMJ. 1997;314:1516-1520
Mitchell EA, Scragg L, Clements M. Soft cot mattresses and the sudden infant death syndrome. NZ Med J. 1996;109:206-207
Hauck FR, Herman SM, Donovan M, et al. Sleep environment and the risk of sudden infant death syndrome in an urban population: the Chicago Infant Mortality Study. Pediatrics. 2003;111:1207-1214
Fleming PJ, Blair PS, Bacon C, et al. Environment of infants during sleep and the risk of sudden infant death syndrome: results of 1993-95 study for confidential inquiry into stillbirths and deaths in infancy. Br Med J. 1996;313:191-195
Ponsonby AL, Dwyer T, Gibbons LE, et al. Factors potentiating the risk of sudden infant death syndrome associated with the prone position. N Engl J Med. 1993;329:377-382
Williams SM, Taylor BJ, Mitchell EA. Sudden infant death syndrome: insulation from bedding and clothing and its effect modifiers. Int J Epidemiol. 1996;25:366-375
Scheers-Masters JR, Schootman M, Thach BT. Heat stress and sudden infant death syndrome incidence: a United States population epidemiologic study. Pediatrics. 2004;113:e586-e592
Horsley T, Clifford T, Barrowman N, et al. Benefits and harms associated with the practice of bed sharing. Arch Pediatr Adolesc Med. 2007;161:237-245
Blair PS, Fleming PJ, Smith IJ, et al. Babies sleeping with parents; case-control study of factors influencing the risk of the sudden infant death syndrome. BMJ. 1999;319:1457-1462
Scragg R, Mitchell EA, Taylor BJ, et al. Bed sharing, smoking, and alcohol in the sudden infant death syndrome. New Zealand Cot Death Study Group [see comments]. BMJ. 1993;307:1312-1318
Tappin D, Ecob R, Brooke H. Bedsharing, room sharing, and sudden infant death syndrome in Scotland: a case-control study. J Pediatr. 2005;147:32-37
McGarvey C, McDonnell M, Chong A, et al. Factors relating to the infant’s last sleep environment in sudden infant death syndrome in the Republic of Ireland. Arch Dis Child. 2003;88:1058-1064
Ruys JH, de Jonge GA, Brand R, Engelberts AC, Semmekrot BA. Bed-sharing in the first four months of life: a risk factor for sudden infant death. Acta Paediatr. 2007;96:1399-1403
Mosko S, Richard C, McKenna J, Drummond S. Infant sleep architecture during bedsharing and possible implications for SIDS. Sleep. 1996;19:677-684
Mosko S, Richard C, McKenna J. Maternal sleep and arousals during bedsharing with infants. Sleep. 1997;20:142-150
Mitchell EA, Thompson JMD. Co-sleeping increases the risk of SIDS, but sleeping in the parents’ bedroom lowers it. In: Rognum TO, ed. Sudden infant death syndrome. New trends in the nineties. Oslo: Scandinavian University; 1995:266-269
Mitchell EA. J Paediatr Child Health. 1992;suppl 1:S13-S16
Ip S, Chung M, Raman G, et al. Breastfeeding and maternal and infant health outcomes in developed countries. Evidence Report/Technology Assessment No. 153 (Prepared by Tufts-New England Medical Center Evidence-based Practice Center, under Contract No. 290-02-0022). AHRQ Publication No. 07-E007 Rockville, MD: Agency for Healthcare Research and Quality. April 2007
Chen A, Rogan WJ. Breastfeeding and the risk of postneonatal death in the United States. Pediatrics. 2004;113:e435-e439
Heininger U, Kleemann WJ, Cherry JD. A controlled study of the relationship between Bordetella pertussis infections and sudden unexpected deaths among German infants. Pediatrics. 2004;114:e9-e15
Hauck FR, Omojokun OO, Siadaty MS. Do pacifiers reduce the risk of sudden infant death syndrome? A meta-analysis. Pediatrics. 2005;116:e716-e723
Li D-K, Willinger M, Petitti DB, et al. Use of a dummy (pacifier) during sleep and risk of sudden infant death syndrome (SIDS): population based case-control study. BMJ. 2006;332:18-22 [Epub 2005 Dec 9]
Mitchell EA, Blair PS, L’Hoir MP. Should pacifiers be recommended to prevent Sudden Infant Death Syndrome? Pediatrics. 2006;117:1755-1758
Franco P, Scaillet S, Wermenbol V, et al. The influence of a pacifier on infants’ arousals from sleep. J Pediatr. 2000;136:775-779
Franco P, Chabanski S, Scaillet S, et al. Pacifier use modifies infant’s cardiac autonomic controls during sleep. Early Hum Dev. 2004;77:99-108
de Jonge GA, Lanting CI, Brand R, Ruys JH, Semmekrot BA, van Wouwe JP. Sudden infant death syndrome in child care settings in The Netherlands. Arch Dis Child. 2004;89:427-430
Moon RY, Patel KM, Shaefer SJ. Sudden infant death syndrome in child care settings. Pediatrics. 2000;106(2 Pt 1):295-300
Moon RY, Sprague BM, Patel KM. Stable prevalence but changing risk factors for sudden infant death syndrome in child care settings in 2001 Pediatrics. 2005;116:972-977
Moon RY, Horne R, Hauck FR. Sudden infant death syndrome. Lancet. 2007;370:1578-1587
Opdahl SH, Rognum TO. The sudden infant death syndrome gene: does it exist? Pediatrics. 2004;114(4):e506-e512
Oyen N, Skjaerven R, Irgens LM. Population-based recurrence risk of sudden infant death syndrome compared with other infant and fetal deaths. Am J Epidemiol. 1996;144:300-305
Guntheroth WG, Lohmann R, Spiers PS. Risk for sudden infant death syndrome in subsequent siblings. J Pediatr. 1990;116:520-524
Carpenter RG, Waite A, Coombs RC, et al. Repeat sudden unexpected and unexplained infant deaths: naturals or unnatural? Lancet. 2005;365:29-35
Thompson MW, Hunt CE. Control of breathing. In: MacDonald MG, Mullett MD, Seshia MMK, eds. Neonatology: pathophysiology and management of the newborn. 6th ed. Philadelphia: Lippincott Williams and Wilkins; 2005
Matturri L, Biondo B, Suarez-Mier MP. Brain stem lesions in the sudden infant death syndrome: variability in the hypoplasia of the arcuate nucleus. Acta Neuropathol.2002;104:12-20
Kinney HC, Myers MM, Belliveau RA, et al. Subtle autonomic and respiratory dysfunction in sudden infant death syndrome associated with serotonergic brainstem abnormalities: a case report. J Neuropathol Exp Neurol. 2005;64:689-694
Ackerman MJ. Unmasking concealed long QT syndrome. Heart Rhythm. 2008;5:8-10
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2010 Springer-Verlag London
About this chapter
Cite this chapter
Hunt, C.E., Hauck, F.R. (2010). Sudden Infant Death Syndrome: Gene-Environment Interactions. In: Brugada, R. (eds) Clinical Approach to Sudden Cardiac Death Syndromes. Springer, London. https://doi.org/10.1007/978-1-84882-927-5_2
Download citation
DOI: https://doi.org/10.1007/978-1-84882-927-5_2
Published:
Publisher Name: Springer, London
Print ISBN: 978-1-84882-926-8
Online ISBN: 978-1-84882-927-5
eBook Packages: MedicineMedicine (R0)