Polymorphic GGC repeats in the androgen receptor gene are associated with hereditary and sporadic prostate cancer risk

Human Genetics

Volumn 110, Issue 2, 2002, Pages 122-129

  Chang, Bao Li ^a,b   Zheng, Siqun L ^a   Hawkins, Gregory A ^a   Isaacs, Sarah D ^c   Wiley, Kathy E ^c   Turner, Aubrey ^a   Carpten, John D ^d   Bleecker, Eugene R ^a   Walsh, Patrick C ^c   Trent, Jeffrey M ^d   Meyers, Deborah A ^a   Isaacs, William B ^c   Xu, Jianfeng ^a  

^a WAKE FOREST SCHOOL OF MEDICINE   (United States)

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

^c DEPARTMENT OF PATHOLOGY   (United States)

^d NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR;

ADULT; AGED; ALLELE; ANALYTIC METHOD; ARTICLE; CANCER RISK; CONTROLLED STUDY; EXON; FAMILY; GENE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; HEREDITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PARAMETRIC TEST; POPULATION GENETICS; PRIORITY JOURNAL; PROSTATE CANCER; RACE; RECEPTOR GENE; RISK FACTOR; SCORING SYSTEM; TRINUCLEOTIDE REPEAT; X CHROMOSOME LINKAGE;

ETHNIC GROUPS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LINKAGE (GENETICS); MALE; POLYMORPHISM, GENETIC; PROSTATIC NEOPLASMS; RECEPTORS, ANDROGEN; RISK FACTORS; TRINUCLEOTIDE REPEATS;

EID: 0036488034     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-001-0662-6     Document Type: Article

References (50)

1. Beilin J, Ball EM, Favaloro JM, Zajac JD (2000) Effect of the androgen receptor CAG repeat polymorphism on transcriptional activity: Specificity in prostate and non-prostate cell lines. J Mol Endocrinol 25:85-96
2. Berry R, Schaid DJ, Smith JR, French AJ, Schroeder JJ, McDonnell SK, Peterson BJ, Wang ZY, Carpten JD, Roberts SG, Tester DJ, Blute ML, Trent JM, Thibodeau SN (2000) Linkage analyses at the chromosome 1 loci 1q24-25 (HPC1), 1q42.2-43 (PCAP), and 1p36 (CAPB) in families with hereditary prostate cancer. Am J Hum Genet 66:539-546
3. Berthon P, Valeri A, Cohen-Akenine A, Drelon E, Paiss T, Wohr G, Latil A, et al (1998) Predisposing gene for early-onset prostate cancer, localized on chromosome 1q42.2-43. Am J Hum Genet 62:1416-1424
4. Bratt O, Borg A, Kristoffersson U, Lundgren R, Zhang QX, Olsson H (1999) CAG repeat length in the androgen receptor gene is related to age at diagnosis of prostate cancer and response to endocrine therapy, but not to prostate cancer risk. Br J Cancer. 81:672-676
5. Carter BS, Beaty TH, Steinberg GD, Childs B, Walsh PC (1992) Mendelian inheritance of familial prostate cancer. Proc Natl Acad Sci USA 89:3367-3371
6. Chamberlain NL, Driver ED, Miesfeld RL (1994) The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function. Nucleic Acids Res 22:3181-3186
7. Chang C, Kokontis J, Liao S (1988) Molecular cloning of human and rat complementary DNA encoding androgen receptors. Science 240:324-326
8. Cerhan JR, et al (1999) Family history and prostate cancer risk in a population-based cohort of Iowa men. Cancer Epidemiol Biomarkers Prev 8:53-60
9. Coetzee GA, Ross RK (1994) Re: Prostate cancer and the androgen receptor. J Natl Cancer Inst 86:872-873
10. n repeats in the human androgen receptor gene are not associated with prostate cancer in a French-German population. Eur J Hum Genet 7:357-362
11. Cottingham RW Jr, Idury RM, Schaffer AA (1993) Faster sequential genetic linkage computations. Am J Hum Genet 53:252-263
12. Crocitto LE, Henderson BE, Coetzee GA (1997) Identification of two germline point mutations in the 5′UTR of the androgen receptor gene in men with prostate cancer. J Urol 158:1599-1601
13. Cui J, Staples MP, Hopper JL, English DR, McCredie MR, Giles GG (2001) Segregation analyses of 1,476 population-based Australian families affected by prostate cancer. Am J Hum Genet 68:1207-1218
14. Dunnen JT den, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121-124
15. Edwards A, Hammond HA, Jin L, Caskey CT, Chakraborty R (1992) Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics 12:241-253
16. Edwards SM, Badzioch MD, Minter R, Hamoudi R, Collins N, Ardern-Jones A, Dowe A, Osborne S, Kelly J, Shearer R, Easton DF, Saunders GF, Dearnaley DP, Eeles RA (1999) Androgen receptor polymorphisms: Association with prostate cancer risk, relapse and overall survival. Int J Cancer 84:458-465
17. Elo JP, Kvist L, Leinonen K, Isomaa V, Henttu P, Lukkarinen O, Vihko P (1995) Mutated human androgen receptor gene detected in a prostatic cancer patient is also activated by estradiol. J Clin Endocrinol Metab 80:3494-3500
18. Gibbs M, Stanford JL, Jarvik GP, Janer M, Badzioch M, Peters MA, Goode EL, Kolb S, Chakrabarti L, Shook M, Basom R, Ostrander EA, Hood L (2000) A genomic scan of families with prostate cancer identifies multiple regions of interest. Am J Hum Genet 67:100-109
19. Giovannucci E, Stampfer MJ, Krithivas K, Brown M, Dahl D, Brufsky A, Talcott J, Hennekens CH, Kantoff PW (1997) The CAG repeat within the androgen receptor gene and its relationship to prostate cancer. Proc Natl Acad Sci USA 94:3320-323
20. Goddard KA, Witte JS, Suarez BK, Catalona WJ, Olson JM (2001) Model-free linkage analysis with covariates confirms linkage of prostate cancer to chromosomes 1 and 4. Am J Hum Genet 68:1197-206
21. Gronberg H, Damber L, Damber JE, Iselius L (1997) Segregation analysis of prostate cancer in Sweden: Support for dominant inheritance. Am J Epidemiol 146:552-557
22. Hakimi JM, Schoenberg MP, Rondinelli RH, Piantadosi S, Barrack ER (1997) Androgen receptor variants with short glutamine or glycine repeats may identify unique subpopulations of men with prostate cancer. Clin Cancer Res 3:1599-1608
23. Hayes RB, Liff JM, Pottern LM, Greenberg RS, Schoenberg JB, Schwartz AG, Swanson GM, Silverman DT, Brown LM, Hoover RN, et al (1995) Prostate cancer risk in US blacks and whites with a family history of cancer. Int J Cancer 60:361-364
24. Horvath S, Laird NM, Knapp M (2000) The transmission/disequilibrium test and parental-genotype reconstruction for X-chromosomal markers. Am J Hum Genet 66:1161-1167
25. Hsieh Cl, Oakley-Girvan I, Balise RR, Halpern J, Gallagher RP, Wu AH, Kolonel LN, O'Brien LE, Lin IG, Van Den Berg DJ, Teh CZ, West DW, Whittemore AS (2001) A genome screen of families with multiple cases of prostate cancer: Evidence of genetic heterogeneity. Am J Hum Genet 69:148-158
26. Hsing AW, Gao YT, Wu G, Wang X, Deng J, Chen YL, Sesterhenn IA, Mostofi FK, Benichou J, Chang C (2000) Polymorphic CAG and GGN repeat lengths in the androgen receptor gene and prostate cancer risk: A population-based case-control study in China. Cancer Res 60:5111-5116
27. Ingles SA, Ross RK, Yu MC, Irvine RA, La Pera G, Haile RW, Coetzee GA (1997) Association of prostate cancer risk with genetic polymorphisms in vitamin D receptor and androgen receptor. J Natl Cancer Inst 89:166-170
28. Irvine RA, Yu MC, Ross RK, Coetzee GA (1995) The CAG and GGC microsatellites of the androgen receptor gene are in linkage disequilibrium in men with prostate cancer. Cancer Res 55:1937-1940
29. Knapp M (1999) The transmission/disequilibrium test and parental-genotype reconstruction: The reconstruction-combined transmission/disequilibrium test. Am J Hum Genet 64:861-870
30. 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
31. Lange EM, Chen H, Brierley K, Livermore H, Wojno KJ, Langefeld CD, Lange K, Cooney KA (2000) The polymorphic exon 1 androgen receptor CAG repeat in men with a potential inherited predisposition to prostate cancer. Cancer Epidemiol Biomarkers Prev 9:439-442
32. Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443-3446
33. Lubahn DB, Joseph DR, Sar M, Tan J, Higgs HN, Larson RE, French FS, Wilson EM (1988) The human androgen receptor: Complementary deoxyribonucleic acid cloning, sequence analysis and gene expression in prostate. Mol Endocrinol 2:1265-1275
34. Mhatre AN, Trifiro MA, Kaufman M, Kazemi-Esfarjani P, Figlewicz D, Rouleau G, Pinsky L (1993) Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy. Nat Genet 5:184-188
35. Miller EA, Stanford JL, Hsu L, Noonan E, Ostrander EA (2001) Polymorphic repeats in the androgen receptor gene in high-risk sibships. Prostate 48:200-205
36. Mononen S, Syrjakoski K, Matikainen M, Tammela TL, Schleutker J, Kallioniemi OP, Trapman J, Koivisto PA (2000) Two percent of Finnish prostate cancer patients have a germ-line mutation in the hormone-binding domain of the androgen receptor gene. Cancer Res 60:6479-6481
37. Monroe KR, Yu MC, Kolonel LN, Coetzee GA, Wilkens LR, Ross RK, Henderson BE (1995) Evidence of an X-linked or recessive genetic component to prostate cancer risk. Nat Med 1:827-829
38. Narod SA, Dupont A, Cusan L, Diamond P, Gomez JL, Suburu R, Labrie F (1995) The impact of family history on early detection of prostate cancer. Nat Med 1:99-101
39. Ott J (1998) Analysis of Human Genetic Linkage, 3rd edn. Johns Hopkins University Press, Baltimore
40. Platz EA, Giovannucci E, Dahl DM, Krithivas K, Hennekens CH, Brown M, Stampfer MJ, Kantoff PW (1998) The androgen receptor gene GGN microsatellite and prostate cancer risk. Cancer Epidemiol Biomarkers Prev 7:379-384
41. Schaid DJ, McDonnell SK, Blute ML, Thibodeau SN (1998) Evidence for autosomal dominant inheritance of prostate cancer. Am J Hum Genet 62:1425-1438
42. Schuurman AG, Zeegers MP, Goldbohm RA, Brandt PA, Brandt PA van den (1999) A case-cohort study on prostate cancer risk in relation to family history of prostate cancer. Epidemiology 10:192-195
43. Sleddens HF, Oostra BA, Brinkmann AO, Trapman J (1993) Trinucleotide (GGC) repeat polymorphism in the human androgen receptor (AR) gene. Hum Mol Genet 2:493
44. Smith JR, Freije D, Carpten JD, Gronberg H, Xu J, Isaacs SD, Brownstein MJ, Bova GA, Guo H, Bujnovszky P, Nusskern DR, Damber JE, Bergh A, Emanuelsson M, Kallioniemi OP, Walker-Daniels J, Bailey-Wilson JE, Beaty TH, Meyers DA, Walsh PC, Collins FS, Trent JM, Isaacs WB (1996) Major susceptibility locus for prostate cancer on chromosome 1 suggested by a genome-wide search. Science 274:1371-1374
45. Spielman RS, McGinnis RE, Ewens WJ (1993) Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52:506-516
46. Stanford JL, Just JJ, Gibbs M, Wicklund KG, Neal CL, Blumenstein BA, Ostrander EA (1997) Polymorphic repeats in the androgen receptor gene: Molecular markers of prostate cancer risk. Cancer Res 57:1194-1198
47. Weir BS (1996) Genetic data analysis II: Methods for discrete population genetic data. Sinauer, Sunderland
48. Woolf CM (1960) An investigation of familial aspects of carcinoma of the prostate. Cancer 13:739-744
49. Xu J, Meyers D, Freije D, Isaacs S, Wiley K, Nusskern D, Ewing C, Wilkens E, Bujnovszky P, Bova GS, Walsh P, Isaacs W, Schleutker J, Matikainen M, Tammela T, Visakorpi T, Kallioniemi OP, Berry R, Schaid D, French A, McDonnell S, Schroeder J, Blute M, Thibodeau S, Trent J, et al (1998) Evidence for a prostate cancer susceptibility locus on the X chromosome. Nat Genet 20:175-179
50. Xu J, Zheng SL, Chang B, Smith JR, Carpten JD, Stine OC, Isaacs SD, Wiley KE, Henning L, Ewing C, Bujnovszky P, Bleeker ER, Walsh PC, Trent JM, Meyers DA, Isaacs WB (2001) Linkage of prostate cancer susceptibility loci to chromosome 1. Hum Genet 108:335-345