Limitations of stratifying sib-pair data in common disease linkage studies: An example using chromosome 10p14-10q11 in type 1 diabetes

American Journal of Medical Genetics

Volumn 113, Issue 2, 2002, Pages 158-166

  Johnson, Gillian C L ^a   Koeleman, Bobby P C ^b   Todd, John A ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Common disease; Heterogeneity; Linkage analysis; Stratification; Type 1 diabetes

Indexed keywords

ARTICLE; CHILD; CHROMOSOME 10P; CHROMOSOME 10Q; DATA ANALYSIS; FAMILY STUDY; FEMALE; GENE LOCUS; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; MALE; PARENT; PRIORITY JOURNAL; PROBABILITY; SIBLING; STATISTICAL SIGNIFICANCE; UNITED KINGDOM;

AGE FACTORS; CHROMOSOMES, HUMAN, PAIR 10; DIABETES MELLITUS, TYPE 1; FAMILY HEALTH; FEMALE; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HLA-DR ANTIGENS; HUMANS; LINKAGE (GENETICS); MALE; MATCHED-PAIR ANALYSIS; MICROSATELLITE REPEATS; NUCLEAR FAMILY; SEX FACTORS; SIBLINGS;

GENETTA; PHRAGMITES;

EID: 0037159470     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10737     Document Type: Article

References (30)

1. Bain SC, Todd JA, Barnett AH. 1990. The British Diabetic Association-Warren Repository. Autoimmunity 7:83-85.
2. Carson NL, Simpson NE. 1991. A physical map of human chromosome 10 and a comparison with an existing genetic map. Genomics 11:379-388.
3. Concannon P, Ewens-Gogolin KJ, Hinds D, Wapelhorst B, Morrison VA, Stirling B, Mitra M, Farmer J, Wlliams SR, Cox DR. 1998. A second-generation screen of the human genome for susceptibility to insulin-dependent diabetes mellitus. Nat Genet 19:292-296.
4. Cordell HJ. 2001. Sample size requirements to control for stochastic variation in magnitude and location of allele-sharing linkage statistics in affected sibling pairs. Ann Hum Genet 65:491-502.
5. Cordell HJ, Carpenter JR. 2000. Bootstrap confidence intervals for relative risk parameters in affected-sib-pair data. Genet Epidemiol 18:157-172.
6. Cox NJ, Wapelhorst B, Morrison VA, Johnson L, Pinchuk L, Spielman RS, Todd JA, Concannon P. 2001. Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families. Am J Hum Genet 69:820-830.
7. Davies JL, Kawaguchi Y, Bennett ST, Copeman JB, Cordell HJ, Pritchard LE, Reed PW, Gough SCL, Jenkins SC, Palmer SM, Balfour KM, Rowe B, Farrall M, Barnett AH, Bain SC, Todd JA. 1994. A genome-wide search for human type 1 diabetes susceptibility genes. Nature 371:130-136.
8. Daw EW, Thompson EM, Wijsman EM. 1998. Bias in multipoint linkage analysis arising from map misspecification. Am J Hum Genet 63(Suppl):A17.
9. Faraone SV, Meyer J, Matise T, Svrakic D, Pepple J, Malaspina D, Suarez B, Hampe C, Chan G, Aelony A, Friedman JH, Kaufmann C, Cloninger CR, Tsuang MT. 1999. Suggestive linkage of chromosome 10p to schizophrenia is not due to transmission ratio distortion. Am J Med Genet 88:607-608.
10. Gardner E, Papi L, Easton DF, Cummings T, Jackson CE, Kaplan M, Love DR, Mole SE, Moore JK, Mulligan LM, et al. 1993. Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2. Hum Mol Genet 2:241-246.
11. Hashimoto L, Habita C, Beressi J, Delepine M, Besse C, Cambon-Thomsen A, Deschamps I, Rotter J, Djoulah S, James M, Froguel P, Weissenbach J, Lathrop G, Julier C. 1994. Genetic mapping of a susceptibility locus for insulin-dependent diabetes mellitus on chromosome 11q. Nature 371:161-164.
12. Hauser ER, Boehnke M, Guo SW, Risch N. 1996. Affected-sib-pair interval mapping and exclusion for complex genetic traits: Sampling considerations. Genet Epidemiol 13:117-137.
13. Holmans P. 1993. Asymptotic properties of affected-sib-pair linkage analysis. Am J Hum Genet 52:362-374.
14. Jackson MS, See CG, Mulligan LM, Lauffart BF. 1996. A 9.75-Mb map across the centromere of human chromosome 10. Genomics 33:258-270.
15. Kruglyak L, Lander ES. 1995a. Complete multipoint sib-pair analysis of qualitative and quantitative traits. Am J Hum Genet 57:439-454.
16. Kruglyak L, Lander ES. 1995b. High-resolution genetic mapping of complex traits. Am J Hum Genet 56:1212-1223.
17. Lander E, Kruglyak L. 1995. Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results. Nat Genetics 11:241-247.
18. Leal SM, Ott J. 2000. Effects of stratification in the analysis of affected-sibpair data: Benefits and costs. Am J Hum Genet 66:567-575.
19. Mein CA, Esposito L, Dunn MG, Johnson GC, Timms AE, Goy JV, Smith AN, Sebag-Montefiore L, Merriman ME, Wilson AJ, Todd JA. 1998. A search for type 1 diabetes susceptibility genes in families from the United Kingdom. Nat Genet 19:297-300.
20. Paterson AD, Petronis A. 1999a. Sex of affected sibpairs and genetic linkage to type 1 diabetes. Am J Med Genet 84:15-19.
21. Paterson AD, Petronis A. 1999b. Transmission ratio distortion in females on chromosome 10p11-p15. Am J Med Genet 88:657-661.
22. Paterson AD, Petronis A. 2000a. Age and sex based genetic locus heterogeneity in type 1 diabetes. J Med Genet 37:186-191.
23. Paterson AD, Petronis A. 2000b. Age of diagnosis-based linkage analysis in type 1 diabetes. Eur J Hum Genet 8:145-148.
24. Paterson AD, Naimark DM, Petronis A. 1999. The analysis of parental origin of alleles may detect susceptibility loci for complex disorders. Hum Hered 49:197-204.
25. Pericak-Vance MA, Bebout JL, Gaskell PC, Yamaoka LH, Hung WY, Alberts MJ, Walker AP, Bartlett RJ, Haynes CA, Welsh KA, 1991. Linkage studies in familial Alzheimer disease: Evidence for chromosome 19 linkage. Am J Hum Genet 48:1034-1050.
26. Reed PW, Davies JL, Copeman JB, Bennett ST, Palmer SM, Pritchard LE, Gough SCL, Kawaguchi Y, Cordell HJ, Balfour KM, Jenkins SC, Powell EE, Vignal A, Todd JA. 1994. Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping. Nat Genet 7:390-395.
27. Reed P, Cucca F, Jenkins S, Merriman M, Wilson A, McKinney P, Bosi E, Joner G, Ronningen K, Thorsby E, Undlien D, Merriman T, Barnett A, Bain S, Todd J. 1997. Evidence for a type 1 diabetes susceptibility locus (IDDM10) on human chromosome 10p11-q11. Hum Mol Genet 6:1011-1016.
28. Risch N. 1991. A note on multiple testing procedures in linkage analysis. Am J Hum Genet 48:1058-1064.
29. Roberts SB, MacLean CJ, Neale MC, Eaves LJ, Kendler KS. 1999. Replication of linkage studies of complex traits: An examination of variation in location estimates. Am J Hum Genet 65:876-884.
30. Terwilliger JD, Goring HH. 2000. Gene mapping in the 20th and 21st centuries: statistical methods, data analysis, and experimental design. Hum Biol 72:63-132.