Maternal genes and facial clefts in offspring: A comprehensive search for genetic associations in two population-based cleft studies from scandinavia

PLoS ONE

Volumn 5, Issue 7, 2010, Pages

  Jugessur, Astanand ^a,b   Shi, Min ^c   Gjessing, Håkon Kristian ^a,d   Lie, Rolv Terje ^a,d   Wilcox, Allen James ^c   Weinberg, Clarice Ring ^c   Christensen, Kaare ^e   Boyles, Abee Lowman ^c   Daack Hirsch, Sandra ^f   Nguyen, Truc Trung ^a   Christiansen, Lene ^e   Lidral, Andrew Carl ^g   Murray, Jeffrey Clark ^e,g  

^a NORWEGIAN INSTITUTE OF PUBLIC HEALTH   (Norway)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES   (United States)

^d UNIVERSITY OF BERGEN   (Norway)

^e UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^f UNIVERSITY OF IOWA COLLEGE OF NURSING   (United States)

^g UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FILAMIN; FILAMIN B; HYPERMETHYLATED IN CANCER 1 PROTEIN; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; ZINC FINGER PROTEIN 89; ACTIN BINDING PROTEIN; CONTRACTILE PROTEIN; DNA BINDING PROTEIN; FILAMINS; HIC1 PROTEIN, HUMAN; KRUPPEL LIKE FACTOR; ZNF189 PROTEIN, HUMAN;

ARTICLE; CLEFT FACE; CLEFT LIP; CLEFT PALATE; DENMARK; GENE IDENTIFICATION; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HUMAN; NORWAY; PRENATAL DEVELOPMENT; PROGENY; RISK FACTOR; SCANDINAVIA; SINGLE NUCLEOTIDE POLYMORPHISM; CASE CONTROL STUDY; COMPUTER PROGRAM; FEMALE; GENETICS; MOTHER;

CASE-CONTROL STUDIES; CLEFT LIP; CLEFT PALATE; CONTRACTILE PROTEINS; DNA-BINDING PROTEINS; FEMALE; GENOTYPE; HUMANS; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MICROFILAMENT PROTEINS; MOTHERS; POLYMORPHISM, SINGLE NUCLEOTIDE; SCANDINAVIA; SOFTWARE;

EID: 77955372062     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0011493     Document Type: Article

References (47)

1. Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, et al. (2009) Genetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia. PLoS ONE 4: e5385.
2. Mossey PA, Little J (2002) Epidemiology of oral clefts: an international perspective. In: Wyszynski DFE, ed. Cleft lip and palate: from origin to treatment. New York: Oxford University Press.
3. Zhu JL, Basso O, Hasle H, Winther JF, Olsen JH, et al. (2002) Do parents of children with congenital malformations have a higher cancer risk? A nationwide study in Denmark. Br J Cancer 87: 524-528.
4. Christensen K, Juel K, Herskind AM, Murray JC (2004) Long term follow up study of survival associated with cleft lip and palate at birth. Bmj 328: 1405.
5. Jugessur A, Farlie PG, Kilpatrick N (2009) The genetics of isolated orofacial clefts: from genotypes to subphenotypes. Oral Dis 15: 437-453.
6. Jugessur A, Murray JC (2005) Orofacial clefting: recent insights into a complex trait. Curr Opin Genet Dev 15: 270-278.
7. Gjessing HK, Lie RT (2006) Case-parent triads: estimating single- and double-dose effects of fetal and maternal disease gene haplotypes. Annals of human genetics: 1-15.
8. Wilcox AJ, Weinberg CR, Lie RT (1998) Distinguishing the effects of maternal and offspring genes through studies of ''case-parent triads''. Am J Epidemiol 148: 893-901.
9. Weinberg CR, Wilcox AJ, Lie RT (1998) A log-linear approach to case-parent-triad data: assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprinting. Am J Hum Genet 62: 969-978.
10. Shi M, Umbach DM, Weinberg CR (2007) Identification of Risk-Related Haplotypes with the Use of Multiple SNPs from Nuclear Families. Am J Hum Genet 81: 53-66.
11. Bille C, Knudsen LB, Christensen K (2005) Changing lifestyles and oral clefts occurrence in Denmark. Cleft Palate Craniofac J 42: 255-259.
12. Wilcox AJ, Lie RT, Solvoll K, Taylor J, McConnaughey DR, et al. (2007) Folic acid supplements and risk of facial clefts: national population based case-control study. Bmj 334: 464.
13. Schaid DJ, Sommer SS (1993) Genotype relative risks: methods for design and analysis of candidate-gene association studies. Am J Hum Genet 53: 1114-1126.
14. Schweder T, Spjotvoll E (1982) Plots of P-values to evaluate many tests simultaneously. Biometrika 69: 493-502.
15. Fisher R (1958) Statistical Methods for Research Workers. New York: Hafner
16. R Development Core Team (2006) R: A Language and Environment for Statistical Computing.
17. Letterio JJ, Geiser AG, Kulkarni AB, Roche NS, Sporn MB, et al. (1994) Maternal rescue of transforming growth factor-beta 1 null mice. Science 264: 1936-1938.
18. Popliker M, Shatz A, Avivi A, Ullrich A, Schlessinger J, et al. (1987) Onset of endogenous synthesis of epidermal growth factor in neonatal mice. Dev Biol 119: 38-44.
19. Stossel TP, Condeelis J, Cooley L, Hartwig JH, Noegel A, et al. (2001) Filamins as integrators of cell mechanics and signalling. Nat Rev Mol Cell Biol 2: 138-145.
20. Feng Y, Walsh CA (2004) The many faces of filamin: a versatile molecular scaffold for cell motility and signalling. Nat Cell Biol 6: 1034-1038.
21. Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, et al. (2004) Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet 36: 405-410.
22. Lu J, Lian G, Lenkinski R, De Grand A, Vaid RR, et al. (2007) Filamin B mutations cause chondrocyte defects in skeletal development. Hum Mol Genet 16: 1661-1675.
23. Zhou X, Tian F, Sandzen J, Cao R, Flaberg E, et al. (2007) Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development. Proc Natl Acad Sci U S A 104: 3919-3924.
24. Farrington-Rock C, Kirilova V, Dillard-Telm L, Borowsky AD, Chalk S, et al. (2008) Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome. Hum Mol Genet 17: 631-641.
25. Isidor B, Cormier-Daire V, Le Merrer M, Lefrancois T, Hamel A, et al. (2008) Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity. Am JMed Genet A 146A: 1593-1597.
26. Chong SS, Pack SD, Roschke AV, Tanigami A, Carrozzo R, et al. (1997) A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet 6: 147-155.
27. Hirotsune S, Pack SD, Chong SS, Robbins CM, Pavan WJ, et al. (1997) Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region. Genome Res 7: 625-634.
28. Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, et al. (1993) Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 364: 717-721.
29. Wales MM, Biel MA, el Deiry W, Nelkin BD, Issa JP, et al. (1995) p53 activates expression ofHIC-1, a new candidate tumour suppressor gene on 17p13.3. Nat Med 1: 570-577.
30. Carter MG, Johns MA, Zeng X, Zhou L, Zink MC, et al. (2000) Mice deficient in the candidate tumor suppressor gene Hic1 exhibit developmental defects of structures affected in the Miller-Dieker syndrome. Hum Mol Genet 9: 413-419.
31. Grimm C, Sporle R, Schmid TE, Adler ID, Adamski J, et al. (1999) Isolation and embryonic expression of the novel mouse gene Hic1, the homologue of HIC1, a candidate gene for the Miller-Dieker syndrome. Hum Mol Genet 8: 697-710.
32. Marazita ML, Field LL, Tuncbilek G, Cooper ME, Goldstein T, et al. (2004) Genome-scan for loci involved in cleft lip with or without cleft palate in consanguineous families from Turkey. Am J Med Genet A 126: 111-122.
33. Marazita ML, Lidral AC, Murray JC, Field LL, Maher BS, et al. (2009) Genome Scan, Fine-Mapping, and Candidate Gene Analysis of Non-Syndromic Cleft Lip with or without Cleft Palate Reveals Phenotype-Specific Differences in Linkage and Association Results. Hum Hered 68: 151-170.
34. Marazita ML, Murray JC, Lidral AC, Arcos-Burgos M, Cooper ME, et al. (2004) Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. Am J Hum Genet 75: 161-173.
35. Mansilla MA, Cooper ME, Goldstein T, Castilla EE, Lopez Camelo JS, et al. (2006) Contributions of PTCH gene variants to isolated cleft lip and palate. Cleft Palate Craniofac J43: 21-29.
36. Brunetti-Pierri N, Del Gaudio D, Peters H, Justino H, Ott CE, et al. (2008) Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. Am JMed Genet A 146A: 2804-2809.
37. He F, Xiong W, Yu X, Espinoza-Lewis R, Liu C, et al. (2008) Wnt5a regulates directional cell migration and cell proliferation via Ror2-mediated noncanonical pathway in mammalian palate development. Development 135: 3871-3879.
38. Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, et al. (2005) A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37: 275-281.
39. Castanet M, Park SM, Smith A, Bost M, Leger J, et al. (2002) A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. Hum Mol Genet 11: 2051-2059.
40. Vieira AR, Avila JR, Daack-Hirsch S, Dragan E, FelixTM, etal. (2005) Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet 1: e64.
41. Moreno LM, Mansilla MA, Bullard SA, Cooper ME, Busch TD, et al. (2009) FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate. Hum Mol Genet 18: 4879-4896.
42. Grosen D, Chevrier C, Skytthe A, Bille C, Molsted K, et al. (2009) A cohort study of recurrence patterns among more than 54,000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance. JMed Genet.
43. Sivertsen A, Wilcox AJ, Skjaerven R, Vindenes HA, Abyholm F, et al. (2008) Familial risk of oral clefts by morphological type and severity: population based cohort study of first degree relatives. Bmj 336: 432-434.
44. Bingle GJ, Niswander JD (1977) Maternal effects in human cleft lip and palate. Am J Hum Genet 29: 605-609.
45. Boyles AL, WilcoxAJ, Taylor JA, Shi M, Weinberg CR, et al. (2009) Oralfacial clefts and gene polymorphisms in metabolism offolate/one-carbon and vitamin A: a pathway-wide association study. Genet Epidemiol 33: 247-255.
46. Shi M, Christensen K, Weinberg CR, Romitti P, Bathum L, et al. (2007) Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants. Am J Hum Genet 80: 76-90.
47. Shi M, Wehby GL, Murray JC (2008) Review on genetic variants and maternal smoking in the etiology of oral clefts and other birth defects. Birth Defects Res C Embryo Today 84: 16-29.