Otitis media: A genome-wide linkage scan with evidence of susceptibility loci within the 17q12 and 10q22.3 regions

BMC Medical Genetics

Volumn 10, Issue , 2009, Pages 85-

  Casselbrant, Margaretha L ^a,b   Mandel, Ellen M ^a,b   Jung, Jeesun ^c   Ferrell, Robert E ^c   Tekely, Kathleen ^a,b   Szatkiewicz, Jin P ^c   Ray, Amrita ^c   Weeks, Daniel E ^c  

^a CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^b UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA INTERFERON; RANTES; TUMOR NECROSIS FACTOR;

AFRICAN AMERICAN; ARTICLE; CAUCASIAN; CHROMOSOME 10Q; CHROMOSOME 17Q; CHROMOSOME 4P; CHROMOSOME 6P; CHROMOSOME 7Q; CONTROLLED STUDY; FAMILY; FEMALE; GENE LOCUS; GENE MAPPING; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOME ANALYSIS; GENOTYPE; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; OTITIS MEDIA; SINGLE NUCLEOTIDE POLYMORPHISM; TYMPANOSTOMY TUBE; CHILD; CHROMOSOME 10; CHROMOSOME 7; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; PRESCHOOL CHILD;

AFRICAN AMERICANS; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 7; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; LINKAGE (GENETICS); MALE; OTITIS MEDIA; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 70349324490     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-10-85     Document Type: Article

References (58)

1. Gates GA. Cost-effectiveness considerations in otitis media treatment. Otolaryngol Head Neck Surg 1996, 114(4):525-530. 10.1016/S0194-5998(96)70243-7, 8643261.
2. Rovers MM. The burden of otitis media. Vaccine 2008, 26(Suppl 7):G2-4. 10.1016/j.vaccine.2008.11.005, 19094933.
3. Brody JA, Overfield T, McAlister R. Draining ears and deafness among Alaskan Eskimos. Arch Otolaryngol 1965, 81:29-33.
4. Maynard JE. Otitis media in Alaskan Eskimo children: an epidemiologic review with observations on control. Alaska Med 1969, 11(3):93-98.
5. Wiet RJ. Patterns of ear disease in the southwestern American Indian. Arch Otolaryngol 1979, 105(7):381-385.
6. Moran DJ, Waterford JE, Hollows F, Jones DL. Ear disease in rural Australia. Med J Aust 1979, 2(4):210-212.
7. Beery QC, Doyle WJ, Cantekin EI, Bluestone CD, Wiet RJ. Eustachian tube function in an American Indian population. Ann Otol Rhinol Laryngol Suppl 1980, 89(3 Pt 2):28-33.
8. Casselbrant ML, Mandel EM, Kurs-Lasky M, Rockette HE, Bluestone CD. Otitis media in a population of black American and white American infants, 0-2 years of age. Int J Pediatr Otorhinolaryngol 1995, 33(1):1-16. 10.1016/0165-5876(95)01184-D, 7558637.
9. Paradise JL, Rockette HE, Colborn DK, Bernard BS, Smith CG, Kurs-Lasky M, Janosky JE. Otitis media in 2253 Pittsburgh-area infants: prevalence and risk factors during the first two years of life. Pediatrics 1997, 99(3):318-333. 10.1542/peds.99.3.318, 9041282.
10. Doyle WJ. A functional-anatomic description of eustachian tube vector relations in four ethinic populations: an osteologic study. dissertation 1977, University of Pittsburgh.
11. Spivey GH, Hirschhorn N. A migrant study of adopted Apache children. Johns Hopkins Med J 1977, 140(2):43-46.
12. Daly KA, Rich SS, Levine S, Margolis RH, Le CT, Lindgren B, Giebink GS. The family study of otitis media: design and disease and risk factor profiles. Genet Epidemiol 1996, 13(5):451-468. 10.1002/(SICI)1098-2272(1996)13:5<451::AID-GEPI2>3.0.CO;2-5, 8905392.
13. Sipila M, Karma P, Pukander J, Timonen M, Kataja M. The Bayesian approach to the evaluation of risk factors in acute and recurrent acute otitis media. Acta Otolaryngol 1988, 106(1-2):94-101. 10.3109/00016488809107375, 3421103.
14. Todd NW. Familial predisposition for otitis media in Apache Indians at Canyon Day, Arizona. Genet Epidemiol 1987, 4(1):25-31. 10.1002/gepi.1370040104, 3569876.
15. Stenstrom C, Ingvarsson L. Otitis-prone children and controls: a study of possible predisposing factors. 1. Heredity, family background and perinatal period. Acta Otolaryngol 1997, 117(1):87-93. 10.3109/00016489709117997, 9039487.
16. Rovers MM, Zielhuis GA, Straatman H, Ingels K, Wilt GJ, Broek P. Prognostic factors for persistent otitis media with effusion in infants. Arch Otolaryngol Head Neck Surg 1999, 125(11):1203-1207.
17. Kvaerner KJ, Tambs K, Harris JR, Magnus P. Distribution and heritability of recurrent ear infections. Ann Otol Rhinol Laryngol 1997, 106(8):624-632.
18. Casselbrant ML, Mandel EM, Fall PA, Rockette HE, Kurs-Lasky M, Bluestone CD, Ferrell RE. The heritability of otitis media: a twin and triplet study. JAMA 1999, 282(22):2125-2130. 10.1001/jama.282.22.2125, 10591333.
19. Rovers M, Haggard M, Gannon M, Koeppen-Schomerus G, Plomin R. Heritability of symptom domains in otitis media: a longitudinal study of 1,373 twin pairs. Am J Epidemiol 2002, 155(10):958-964. 10.1093/aje/155.10.958, 11994236.
20. Daly KA, Brown WM, Segade F, Bowden DW, Keats BJ, Lindgren BR, Levine SC, Rich SS. Chronic and recurrent otitis media: a genome scan for susceptibility loci. Am J Hum Genet 2004, 75(6):988-997. 10.1086/426061, 1225283, 15514890.
21. Sale M, Perlegas P, Marion M, Hicks P, Rich S, Daly K. Fine mapping of two loci influencing chronic otitis media with effusion and/or recurrent otitis media (COME/ROM). 9th International Symposium on Recent Advances in Otitis Media: 2007; St. Pete Beach, Florida: 9th International Symposium on Recent Advances in Otitis Media 2007, 87.
22. Ilia S, Goulielmos GN, Samonis G, Galanakis E. Host's response in otitis media: understanding genetic susceptibility. Pediatr Infect Dis J 2008, 27(10):929-933. 10.1097/INF.0b013e318174e0b0, 18724267.
23. Stool SE, Flaherty MR. Validation of diagnosis of otitis media with effusion. Ann Otol Rhinol Laryngol 1983, 92:5-6.
24. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988, 16(3):1215. 10.1093/nar/16.3.1215, 334765, 3344216.
25. Matise TC, Chen F, Chen W, De La Vega FM, Hansen M, He C, Hyland FC, Kennedy GC, Kong X, Murray SS. A second-generation combined linkage physical map of the human genome. Genome Res 2007, 17(12):1783-1786. 10.1101/gr.7156307, 2099587, 17989245.
26. McPeek MS, Sun L. Statistical tests for detection of misspecified relationships by use of genome-screen data. Am J Hum Genet 2000, 66(3):1076-1094. 10.1086/302800, 1288143, 10712219.
27. Sun L, Wilder K, McPeek MS. Enhanced pedigree error detection. Hum Hered 2002, 54(2):99-110. 10.1159/000067666, 12566741.
28. Boehnke M, Cox NJ. Accurate inference of relationships in sib-pair linkage studies. Am J Hum Genet 1997, 61(2):423-429. 10.1086/514862, 1715905, 9311748.
29. Epstein MP, Duren WL, Boehnke M. Improved inference of relationship for pairs of individuals. Am J Hum Genet 2000, 67(5):1219-1231. 1288564, 11032786.
30. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, Bender D, Maller J, Sklar P, de Bakker PIW, Daly MJ. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007, 81(3):559-575. 10.1086/519795, 1950838, 17701901.
31. Abecasis GR, Cherny SS, Cookson WO, Cardon LR. Merlin--rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002, 30(1):97-101. 10.1038/ng786, 11731797.
32. Broman KW. Estimation of allele frequencies with data on sibships. Genet Epidemiol 2001, 20(3):307-315. 10.1002/gepi.2, 11255240.
33. Lange K, Cantor R, Horvath S, Perola M, Sabatti C, Sinsheimer J, Sobel E. MENDEL version 4.0: A complete package for the exact genetic analysis of discrete traits in pedigree and population data sets. Am J Hum Genet 2001, 69(Suppl):504. 1235481, 11462172.
34. O'Connell JR, Weeks DE. PedCheck: A program for identifying genotype incompatibilities in linkage analysis. Am J Hum Genet 1998, 63(1):259-266. 10.1086/301904, 1377228, 9634505.
35. Wigginton JE, Abecasis GR. PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data. Bioinformatics 2005, 21(16):3445-3447. 10.1093/bioinformatics/bti529, 15947021.
36. Mukhopadhyay N, Almasy L, Schroeder M, Mulvihill WP, Weeks DE. Mega2: data-handling for facilitating genetic linkage and association analyses. Bioinformatics 2005, 21(10):2556-2557. 10.1093/bioinformatics/bti364, 15746282.
37. Abecasis GR, Wigginton JE. Handling marker-marker linkage disequilibrium: pedigree analysis with clustered markers. Am J Hum Genet 2005, 77(5):754-767. 10.1086/497345, 1271385, 16252236.
38. Raychaudhuri S, Plenge RM, Rossin EJ, Ng AC, Purcell SM, , Sklar P, Scolnick EM, Xavier RJ, Altshuler D. International Schizophrenia Consortium Identifying relationships among genomic disease regions: Predicting genes at pathogenic SNP associations and rare deletions. PLoS Genet 2009, 5(6):e1000534. 10.1371/journal.pgen.1000534, 2694358, 19557189.
39. Ge D, Zhang K, Need AC, Martin O, Fellay J, Urban TJ, Telenti A, Goldstein DB. WGAViewer: software for genomic annotation of whole genome association studies. Genome Res 2008, 18(4):640-643. 10.1101/gr.071571.107, 2279251, 18256235.
40. Nathanson KN, Wooster R, Weber BL. Breast cancer genetics: what we know and what we need. Nat Med 2001, 7(5):552-556. 10.1038/87876, 11329055.
41. Schellenberg GD, D'Souza I, Poorkaj P. The genetics of Alzheimer's disease. Curr Psychiatry Rep 2000, 2(2):158-164. 10.1007/s11920-000-0061-z, 11122949.
42. Rice JP, Saccone NL, Rasmussen E. Definition of the phenotype. Adv Genet 2001, 42:69-76. full_text, 11037314.
43. Stove V, Walle I, Naessens E, Coene E, Stove C, Plum J, Verhasselt B. Human immunodeficiency virus Nef induces rapid internalization of the T-cell coreceptor CD8alphabeta. J Virol 2005, 79(17):11422-11433. 10.1128/JVI.79.17.11422-11433.2005, 1193625, 16103193.
44. Avanzini AM, Castellazzi AM, Marconi M, Valsecchi C, Marseglia A, Ciprandi G, De Silvestri A, Marseglia GL. Children with recurrent otitis show defective IFN gamma-producing cells in adenoids. Pediatr Allergy Immunol 2008, 19(6):523-526. 10.1111/j.1399-3038.2007.00682.x, 18266836.
45. Iino Y, Kakizaki K, Katano H, Saigusa H, Kanegasaki S. Eosinophil chemoattractants in the middle ear of patients with eosinophilic otitis media. Clin Exp Allergy 2005, 35(10):1370-1376. 10.1111/j.1365-2222.2005.02330.x, 16238798.
46. Das S, Palmer OP, Leight WD, Surowitz JB, Pickles RJ, Randell SH, Buchman CA. Cytokine amplification by respiratory syncytial virus infection in human nasal epithelial cells. Laryngoscope 2005, 115(5):764-768. 10.1097/01.MLG.0000159527.76949.93, 15867636.
47. Liang G, Cui Y, Wei M, Liu Z, Wang C. [The expression of RANTES interleukin 1beta and endotoxin in the effusion of secretory otitis media]. Lin Chuang Er Bi Yan Hou Ke Za Zhi 2004, 18(7):411-413.
48. Kariya S, Okano M, Aoji K, Kosaka M, Chikumoto E, Hattori H, Yuen K, Nishioka S, Nishioka K, Nishizaki K. Role of macrophage migration inhibitory factor in otitis media with effusion in adults. Clin Diagn Lab Immunol 2003, 10(3):417-422. 154972, 12738641.
49. Jang CH, Kim YH. Demonstration of RANTES and eosinophilic cataionic protein in otitis media with effusion with allergy. Int J Pediatr Otorhinolaryngol 2003, 67(5):531-533. 10.1016/S0165-5876(03)00015-6, 12697356.
50. Schousboe LP, Rasmussen LM, Ovesen T. Induction of mucin and adhesion molecules in middle ear mucosa. Acta Otolaryngol 2001, 121(5):596-601. 10.1080/000164801316878881, 11583392.
51. Schousboe LP, Rasmussen LM, Ovesen T. RANTES in otitis media with effusion: presence, role and correlation with cytokines and microbiology. APMIS 2001, 109(6):441-446. 10.1034/j.1600-0463.2001.090606.x, 11506476.
52. Moyse E, Lyon M, Cordier G, Mornex JF, Collet L, Froehlich P. Viral RNA in middle ear mucosa and exudates in patients with chronic otitis media with effusion. Arch Otolaryngol Head Neck Surg 2000, 126(9):1105-1110.
53. Ramet M, Lofgren J, Alho OP, Hallman M. Surfactant protein-A gene locus associated with recurrent otitis media. J Pediatr 2001, 138(2):266-268. 10.1067/mpd.2001.110133, 11174628.
54. Pettigrew MM, Gent JF, Zhu Y, Triche EW, Belanger KD, Holford TR, Bracken MB, Leaderer BP. Association of surfactant protein A polymorphisms with otitis media in infants at risk for asthma. BMC Med Genet 2006, 7:68. 10.1186/1471-2350-7-68, 1557482, 16884531.
55. Gentile DA, Doyle WJ, Zeevi A, Howe-Adams J, Kapadia S, Trecki J, Skoner DP. Cytokine gene polymorphisms moderate illness severity in infants with respiratory syncytial virus infection. Hum Immunol 2003, 64(3):338-344. 10.1016/S0198-8859(02)00827-3, 12590978.
56. Patel JA, Nair S, Grady J, Revai K, Victor S, Brasier AR, Chonmaitree T. Systemic Cytokine Response Profiles Associated With Respiratory Virus-Induced Acute Otitis Media. Pediatr Infect Dis J 2009,
57. Patel JA, Nair S, Revai K, Grady J, Saeed K, Matalon R, Block S, Chonmaitree T. Association of proinflammatory cytokine gene polymorphisms with susceptibility to otitis media. Pediatrics 2006, 118(6):2273-2279. 10.1542/peds.2006-0764, 17142509.
58. Emonts M, Veenhoven RH, Wiertsema SP, Houwing-Duistermaat JJ, Walraven V, de Groot R, Hermans PW, Sanders EA. Genetic polymorphisms in immunoresponse genes TNFA, IL6, IL10, and TLR4 are associated with recurrent acute otitis media. Pediatrics 2007, 120(4):814-823. 10.1542/peds.2007-0524, 17908769.