Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26

American Journal of Human Genetics

Volumn 77, Issue 3, 2005, Pages 365-376

  Treloar, Susan A ^a,d,i   Wicks, Jacqueline ^a,d   Nyholt, Dale R ^a,d   Montgomery, Grant W ^a,d   Bahlo, Melanie ^a,b   Smith, Vicki ^f   Dawson, Gary ^f   Mackay, Ian J ^f   Weeks, Daniel E ^g   Bennett, Simon T ^f   Carey, Alisoun ^f   Ewen White, Kelly R ^c   Duffy, David L ^a,d   O'Connor, Daniel T ^e   Barlow, David H ^h   Martin, Nicholas G ^a,d   Kennedy, Stephen H ^h  

^a Department of Civil and Environmental Engineering   (Australia)

^b WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^c Australian Genome Research Facility Ltd   (Australia)

^d QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^e Queensland Endometriosis Research Institute   (Australia)

^f Oxagen   (United Kingdom)

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

^h UNIVERSITY OF OXFORD   (United Kingdom)

ⁱ ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; AUSTRALIA; CHROMOSOME 10Q; CHROMOSOME 12; CHROMOSOME 14; CHROMOSOME 15; CHROMOSOME 17; CHROMOSOME 2; CHROMOSOME 20P; CHROMOSOME 6; CHROMOSOME 7; CHROMOSOME 8; CLONING; DIAGNOSTIC PROCEDURE; DISEASE PREDISPOSITION; DISEASE SEVERITY; DYSMENORRHEA; ENDOMETRIOSIS; FAMILIAL DISEASE; FEMALE; FEMALE INFERTILITY; GENE LOCUS; GENETIC LINKAGE; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC TRAIT; GENETIC VARIABILITY; GENOME ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; PATHOPHYSIOLOGY; PELVIS PAIN SYNDROME; PRIORITY JOURNAL; UNITED KINGDOM;

EID: 23944495535     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/432960     Document Type: Article

References (50)

1. Abecasis GR, Burt RA, Hall D, Bochum S, Doheny KF, Lundy SL, Torrington M, Roos JL, Gogos JA, Karayiorgou M (2004a) Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1. Am J Hum Genet 74:403-417
2. Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2001) GRR: graphical representation of relationship errors. Bioinformatics 17:742-743
3. - (2002) Merlin - rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97-101
4. Abecasis GR, Yashar BM, Zhao Y, Ghiasvand NM, Zareparsi S, Branham KE, Reddick AC, Trager EH, Yoshida S, Bahling J, Filippova E, Elner S, Johnson MW, Vine AK, Sieving PA, Jacobson SG, Richards JE, Swaroop A (2004b) Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease. Am J Hum Genet 74:482-494
5. American Fertility Society (1985) Revised American Fertility Society classification of endometriosis: 1985. Fertil Steril 43: 351-352
6. Bischoff FZ, Simpson JL (2000) Heritability and molecular genetic studies of endometriosis. Hum Reprod Update 6:37-44
7. Cordell HJ (2004) Bias toward the null hypothesis in model-free linkage analysis is highly dependent on the test statistic used. Am J Hum Genet 74:1294-1302
8. Daftary GS, Taylor HS (2004) EMX2 gene expression in the female reproductive tract and aberrant expression in the endometrium of patients with endometriosis. J Clin Endocrinol Metab 89:2390-2396
9. Davis S, Weeks DE (1997) Comparison of nonparametric statistics for detection of linkage in nuclear families: single-marker evaluation. Am J Hum Genet 61:1431-1444
10. Duffy DL (2001) Sib-Pair release 0.99.9, Brisbane, Australia
11. Eskenazi B, Warner ML (1997) Epidemiology of endometriosis. Obstet Gynecol Clin North Am 24:235-258
12. Ewen KR, Bahlo M, Treloar SA, Levinson DF, Mowry B, Barlow JW, Foote SJ (2000) Identification and analysis of error types in high-throughput genotyping. Am J Hum Genet 67: 727-736
13. Fingerlin TE, Boehnke M, Abecasis GR (2004) Increasing the power and efficiency of disease-marker case-control association studies through use of allele-sharing information. Am J Hum Genet 74:432-443
14. Flores I, Mandal DM, Bailey-Wilson JE (2004) Search for endometriosis susceptibility genes in Puerto Rico [program number 1905]. Presented at the American Society for Human Genetics 2004 Annual Meeting, Toronto, Canada, October 26-30
15. Giudice LC, Kao LC (2004) Endometriosis. Lancet 364:1789-1799
16. Goring HH, Terwilliger JD, Blangero J (2001) Large upward bias in estimation of locus-specific effects from genomewide scans. Am J Hum Genet 69:1357-1369
17. Greenberg DA, Abreu P, Hodge SE (1998) The power to detect linkage in complex disease by means of simple LOD-score analyses. Am J Hum Genet 63:870-879
18. Hadfield RM, Manek S, Wesks DE, Mardon HJ, Barlow DH, Kennedy SH (2001) Linkage and association studies of the relationship between endometriosis and genes encoding the detoxification enzymes GSTM1, GSTT1 and CYP1A1. Mol Hum Reprod 7:1073-1078
19. Healy DL, Rogers PA, Hu L, Wingfield M (1998) Angiogenesis: a new theory for endometriosis. Hum Reprod Update 4: 736-740
20. Hodge S, Abreu P, Greenberg D (1997) Magnitude of type I error when single-locus linkage analysis is maximized over models: a simulation study. Am J Hum Genet 60:217-227
21. Holmans P (1993) Asymptotic properties of affected-sib-pair linkage analysis. Am J Hum Genet 52:362-374
22. Huang J, Vieland VJ (2001) Comparison of "model-free" and "model-based" linkage statistics in the presence of locus heterogeneity: single data set and multiple data set applications. Hum Hered 51:217-225
23. Kennedy S (2003) Genetics of endometriosis: a review of the positional cloning approaches. Semin Reprod Med 21:111-118
24. Kennedy S, Mardon H, Barlow D (1995) Familial endometriosis. J Assist Reprod Genet 12:32-34
25. Kruglyak L, Daly M (1998) Linkage thresholds for two-stage genome scans. Am J Hum Genet 62:994-997
26. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363
27. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
28. National Institute of Child Health and Human Development (2002) Endometriosis. U.S. Department of Health and Human Services, National Institutes of Health, Rockville, MD (available at: http://www.nichd.nih.gov/publications/ pubs/endometriosis.pdf; accessed July 18, 2005)
29. Nisolle M, Donnez J (1997) Peritoneal endometriosis, ovarian endometriosis, and adenomyotic nodules of the rectovaginal septum are three different entities. Fertil Steril 68:585-596
30. Nyholt DR (2000) All LODs are not created equal: invited editorial. Am J Hum Genet 67:282-288
31. O'Connell JR, Weeks DE (1998) PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63:259-266
32. Pal D, Durner M, Greenberg D (2001) Effect of misspecification of gene frequency on the two-point LOD score. Eur J Hum Genet 9:855-859
33. Peiffer SL, Herzog TJ, Tribune DJ, Mutch DG, Gersell DJ, Goodfellow PJ (1995) Allelic loss of sequences from the long arm of chromosome 10 and replication errors in endometrial cancers. Cancer Res 55:1922-1926
34. Peiffer-Schneider S, Noonan FC, Mutch DG, Simpkins SB, Herzog T, Rader J, Elbendary A, Gersell DJ, Call K, Goodfellow PJ (1998) Mapping an endometrial cancer tumor suppressor gene at 10q25 and development: of a bacterial clone contig for the consensus deletion interval. Genomics 52:9-16
35. Risch N (1990) Linkage strategies for genetically complex traits. II. The power of affected relative pairs. Am J Hum Genet 46:229-241
36. Sampson JA (1927) Peritoneal endometriosis due to the menstrual dissemination of endometrial tissue into the peritoneal cavity. Am J Obstet Gynecol 14:422-469
37. Sato N, Tsunoda H, Nishida M, Morishita Y, Takimoto Y, Kubo T, Noguchi M (2000) Loss of heterozygosity on 10q23.3 and mutation of the tumor suppressor gene PTEN in benign endometrial cyst of the ovary: possible sequence progression from benign endometrial cyst to endometrioid carcinoma and clear cell carcinoma of the ovary. Cancer Res 60:7052-7056
38. Simpson JL, Bischoff FZ (2002) Heritability and molecular genetic studies of endometriosis. Ann N Y Acad Sci 955: 239-251
39. Song K, Weeks D, Sobel E, Feingold E (2004) Efficient simulation of P values for linkage analysis. Genet Epidemiol 26:88-96
40. Stefansson H, Einarsdottir A, Geirsson RT, Jonsdottir K, Sverrisdottir G, Gudnadottir VG, Gunnarsdottir S, Manolescu A, Gulcher J, Stefansson K (2001) Endometriosis is not associated with or linked to the GALT gene. Fertil Steril 76: 1019-1022
41. Stefansson H, Geirsson RT, Steinthorsclottir V, Jonsson H, Manolescu A, Kong A, Ingadottir G, Gulcher J, Stefansson K (2002) Genetic factors contribute to the risk of developing endometriosis. Hum Reprod 17:555-559
42. Suarez B, Hodge S (1979) A simple method to detect linkage for rare recessive diseases: an application to juvenile diabetes. Clin Genet 15:126-136
43. Treloar S, Hadfield R, Montgomery G, Lambert A, Wicks J, Barlow DH, O'Connor DT, Kennedy S (2002) The International Endogene Study: a collection of families for genetic research in endometriosis. Fertil Steril 78:679-685
44. Treloar SA, O'Connor DT, O'Connor VM, Martin NG (1999) Genetic influences on endometriosis in an Australian twin sample. Fertil Steril 71:701-710
45. Varma R, Rollason T, Gupta JK, Maher ER (2004) Endometriosis and the neoplastic process. Reproduction 127: 293-304
46. Vinatier D, Orazi G, Cosson M, Dufour P (2001) Theories of endometriosis. Eur J Obstet Gynecol Reprod Biol 96:21-34
47. Walling GA, Visscher PM, Andersson L, Rothschild MF, Wang L, Moser G, Groenen MA, Bidanel JP, Cepica S, Archibald AL, Geldermann H, de Koning DJ, Milan D, Haley CS (2000) Combined analyses of data from quantitative trait loci mapping studies: chromosome 4 effects on porcine growth and fatness. Genetics 155:1369-1378
48. Wicks J, Treloar SA, Martin NG (2004) Using identity-by-descent information in affected sib pairs to increase the efficiency of genetic association studies. Twin Res 7:211-216
49. Zondervan KT, Cardon LR, Kennedy SH (2001) The genetic basis of endometriosis. Gurr Opin Obstet Gynecol 13:309-314
50. Zondervan KT, Weeks DE, Colman R, Cardon LR, Hadfield R, Schleffler J, Trainor AG, Coe CL, Kemnitz JW, Kennedy SH (2004) Familial aggregation of endometriosis in a large pedigree of rhesus macaques. Hum Reprod 19:448-455