Investigation of maternal effects, maternal-fetal interactions and parent-of-origin effects (imprinting), using mothers and their offspring

Genetic Epidemiology

Volumn 35, Issue 1, 2011, Pages 19-45

  Ainsworth, Holly F ^a   Unwin, Jennifer ^a   Jamison, Deborah L ^a   Cordell, Heather J ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Case parent trio; Epigenetic; Log linear model

Indexed keywords

ARTICLE; BIOMETRY; CHILD; COMPUTER SIMULATION; CONTROLLED STUDY; EQUILIBRIUM CONSTANT; FETUS; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC PARAMETERS; GENOTYPE; HUMAN; HUMAN EXPERIMENT; MALE; MATING; MOTHER; MOTHER FETUS RELATIONSHIP; PARENT; PROGENY; RISK FACTOR; SAMPLE SIZE;

CASE-CONTROL STUDIES; COMPUTER SIMULATION; DATA INTERPRETATION, STATISTICAL; EPIGENOMICS; FEMALE; FETAL DEVELOPMENT; GENOMIC IMPRINTING; GENOTYPE; HUMANS; LINEAR MODELS; MATERNAL-FETAL EXCHANGE; MODELS, STATISTICAL; PARENTS; PREGNANCY; RISK; SAMPLE SIZE;

EID: 78650311616     PISSN: 07410395     EISSN: 10982272     Source Type: Journal    
DOI: 10.1002/gepi.20547     Document Type: Article

References (47)

1. Baker SG. 1994. The multinomial-Poisson transformation. The Statistician 43:495-504.
2. Buyske S. 2008. Maternal genotype effects can alias case genotype effects in case-control studies. Eur J Hum Genet 16:784-785.
3. Chen J, Zheng H, Wilson M. 2009. Likelihood ratio tests for maternal and fetal genetic effects on obstetric complications. Genet Epidemiol 33:526-538.
4. Childs EJ, Palmer CG, Lange K, Sinsheimer JS. 2010. Modeling maternal-offspring gene-gene interactions: the extended-MFG test. Genet Epidemiol 34:512-521.
5. Clayton DG. 2009. Prediction and interaction in complex disease genetics: experience in type 1 diabetes. PLoS Genet 5:e1000540.
6. Cordell HJ.2009. Detecting gene-gene interactions that underlie human diseases. Nat Rev Genet 10:392-404.
7. Cordell HJ, Clayton DG.2002. A unified stepwise regression procedure for evaluating the relative effects of polymorphisms within a gene using case/control or family data: application to HLA in type 1 diabetes. Am J Hum Genet 70:124-141.
8. Cordell HJ, Barratt BJ, Clayton DG. 2004. Case/pseudocontrol analysis in genetic association studies: a unified framework for detection of genotype and haplotype associations, gene-gene and gene-environment interactions and parent-of-origin effects. Genet Epidemiol 26:167-185.
9. DeChiara TM, Robertson EJ, Efstratiadis A.1991. Parental imprinting of the mouse insulin-like growth factor II gene. Cell 64:849-859.
10. Devlin B, Roeder K.1999. Genomic control for association studies. Biometrics 55:997-1004.
11. Epstein M, Veal C, Trembath R, Barker J, Li C, Satten G. 2005. Genetic association analysis using data from triads and unrelated subjects. Am J Hum Genet 76:592-608.
12. Goddard KA, Tromp G, Romero R, Olson JM, Lu Q, Xu Z, Parimi N, Nien JK, Gomez R, Behnke E, Solari M, Espinoza J, Santolaya J, Chaiworapongsa T, Lenk GM, Volkenant K, Anant MK, Salisbury BA, Carr J, Lee MS, Vovis GF, Kuivaniemi H. 2007. Candidate-gene association study of mothers with pre-eclampsia, and their infants, analyzing 775 SNPs in 190 genes. Hum Hered 63:1-16.
13. Hsieh HJ, Palmer CG, Harney S, Newton JL, Wordsworth P, Brown MA, Sinsheimer JS.2006. The v-MFG test: investigating maternal, offspring and maternal-fetal genetic incompatibility effects of disease and viability. Genet Epidemiol 30:333-347.
14. Jamieson SE, de Roubaix LA, Cortina-Borja M, Tan HK, Mui EJ, Cordell HJ, Kirisits MJ, Miller EN, Peacock CS, Hargrave AC, Coyne JJ, Boyer K, Bessieres MH, Buffolano W, Ferret N, Franck J, Kieffer F, Meier P, Nowakowska DE, Paul M, Peyron F, Stray-Pedersen B, Prusa AR, Thulliez P, Wallon M, Petersen E, McLeod R, Gilbert RE, Blackwell JM.2008. Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis. PLoS ONE 3:e2285.
15. Jensen LE, Etheredge AJ, Brown KS, Mitchell LE, S WA. 2006. Maternal genotype for the monocyte chemoattractant protein 1 A(-2518)G promotor polymorphism is associated with the risk of spina bifida in offspring. Am J Med Genet A 140:1114-1118.
16. Lange K, Cantor R, Horvath S, Perola M, Sabatti C, Sinsheimer J, Sobel E. 2001. 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 69:504.
17. Lange K, Sinsheimer JS, Sobel E. 2005. Association testing with Mendel. Genet Epidemiol 29:36-50.
18. Larizza D, Martinetti M, Dugoujon J, Tinelli C, Calcaterra V, Cuccia M, Salvaneschi L, Severi F. 2005. Parental GM and HLA genotypes and reduced birth weight in patients with Turner's syndrome. J Pediatr Endocrinol Metab 15:1183-1190.
19. Li S, Lu Q, Fu W, Romero R, Cui Y. 2009. A regularized regression approach for dissecting genetic conflicts that increase disease risk in pregnancy. Stat Appl Genet Mol Biol 8:45.
20. Nagelkerke N, Hoebee B, Teunis P, Kimman T. 2000. Combining the transmission disequilibrium test and case-control methodology using generalized logistic regression. Eur J Hum Genet 12:964-970.
21. Ober C, Simpson JL, Ward M, Radvany RM, Andersen R, Elias S, Sabbagha R. 1987. Prenatal effects of maternal-fetal HLA compatibility. Am J Reprod Immunol Microbiol 15:141-149.
22. Palmer CG, Hsieh HJ, Reed EF, Lonnqvist J, Peltonen L, Woodward JA, Sinsheimer JS. 2006. HLA-B maternal-fetal genotype matching increases risk of schizophrenia. Am J Hum Genet 79:710-715.
23. Parimi N, Tromp G, Kuivaniemi H, Nien JK, Gomez R, Romero R, Goddard KA. 2008. Analytical approaches to detect maternal/fetal genotype incompatibilities that increase risk of pre-eclampsia. BMC Med Genet 9:60.
24. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, D R. 2006. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38:904-909.
25. Pritchard JK, Stephens M, Rosenberg NA, Donnelly P. 2000. Association mapping in structured populations. Am J Hum Genet 67:170-181.
26. Purcell S, Cherney SS, Sham P. 2003. Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 19:149-150.
27. S.A.G.E. 1994. Statistical Analysis for Genetic Epidemiology, Release 2.2. Computer program package obtained from the Department of Biometry and Genetics, LSU Medical Center, New Orleans.
28. Schaid DJ. 1996. General score tests for associations of genetic markers with disease using cases and their parents. Genet Epidemiol 13:423-449.
29. 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.
30. Schneider K, Knutson F, Tamsen L, Sjöberg O. 1994. HLA antigen sharing in preeclampsia. Gynecol Obstet Invest 37:87-90.
31. Self SG, Longton G, Kopecky KJ, Liang KY. 1991. On estimating HLA-disease association with application to a study of aplastic anemia. Biometrics 47:53-61.
32. Shi M, Umbach DM, Vermeulen SH, Weinberg CR. 2008. Making the most of case-mother/control-mother studies. Am J Epidemiol 168:541-547.
33. Shi M, Umbach DM, Weinberg CR. 2009. Using case-parent triads to estimate relative risks associated with a candidate haplotype. Ann Hum Genet 73:346-359.
34. Sinsheimer JS, Palmer CG, Woodward JA. 2003. Detecting genotype combinations that increase risk for disease: maternal-fetal genotype incompatibility test. Genet Epidemiol 24:1-13.
35. Spielman RS, McGinnis RE, Ewens WJ. 1993. Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus. Am J Hum Genet 52:506-516.
36. Strachan T, Read AP, editors. 1999. Human Molecular Genetics, 2nd edition. New York: Wiley.
37. Thomas D. 2010. Gene-environment-wide association studies: emerging approaches. Nat Rev Genet 11:252-272.
38. van Den Oord EJ, Vermunt JK. 2000. Testing for linkage disequilibrium, maternal effects, and imprinting with (in)complete case-parent triads, by use of the computer program LEM. Am J Hum Genet 66:335-338.
39. Vermeulen SH, Shi M, Weinberg CR, Umbach DM. 2009. A hybrid design: case-parent triads supplemented by control-mother dyads. Genet Epidemiol 33:136-144.
40. Weinberg CR. 1999a. Allowing for missing parents in genetic studies of case/parent triads. Am J Hum Genet 64:1186-1193.
41. Weinberg CR. 1999b. Methods for detection of parent-of-origin effects in genetic studies of case-parents triads. Am J Hum Genet 65:229-235.
42. Weinberg CR, Shi M. 2009. The genetics of preterm birth: using what we know to design better association studies. Am J Epidemiol 170:1373-1381.
43. Weinberg CR, Umbach DM. 2005. A hybrid design for studying genetic influences on risk of diseases with onset early in life. Am J Hum Genet 77:627-636.
44. 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.
45. Wilkinson LS, Davies W, Isles AR. 2007. Genomic imprinting effects on brain development and function. Nat Rev Neurosci 8:832-843.
46. Wilson ML, Goodwin TM, Pan VL, Ingles SA. 2003. Molecular epidemiology of preeclampsia. Obstet Gynecol Surv 58:39-66.
47. WTCCC. 2007. Genome-wide association study of 14, 000 cases of seven common diseases and 3, 000 shared controls. Nature 447:661-678.