Evidence of multiple causal sites affecting weight in the IGF2-INS-TH region of human chromosome 11

Human Genetics

Volumn 110, Issue 2, 2002, Pages 173-181

  Gu, Dongfeng ^a,c   O'Dell, Sandra D ^a   Chen, Xiao He ^a   Miller, George J ^b   Day, Ian N M ^a  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^b QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^c FUWAI HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

INSULIN; SOMATOMEDIN B; TYROSINE 3 MONOOXYGENASE;

3' UNTRANSLATED REGION; ADULT; ALLELE; ARTICLE; CHROMOSOME 11; EXON; GENE; GENE INTERACTION; GENE LOCUS; GENETIC ANALYSIS; GENETIC MARKER; GENETIC MODEL; GENETIC PARAMETERS; GENOME; GENOTYPE; HUMAN; MALE; MICROSATELLITE MARKER; NUCLEOTIDE SEQUENCE; PARSIMONY ANALYSIS; PREDICTION; PRIORITY JOURNAL; PROMOTER REGION; REGRESSION ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ANALYSIS OF VARIANCE; BODY WEIGHT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 13; DIABETES MELLITUS, TYPE 1; GENETIC MARKERS; GENOTYPE; HUMANS; INSULIN; INSULIN-LIKE GROWTH FACTOR II; LINKAGE (GENETICS); MIDDLE AGED; MINISATELLITE REPEATS; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; REGRESSION ANALYSIS;

EID: 0036488046     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-001-0663-5     Document Type: Article

References (38)

1. Awata T, Kurihara S, Kikuchi C, Takei S, Inoue I, Chikara I, Takahashi K, Negishi K, Yoshida Y, Hagura R, Kanazawa Y, Katayama S (1997) Evidence for association between the class I subset of the insulin gene minisatellite (IDDM 2 locus) and IDDM in the Japanese population. Diabetes 46:1637-1642
2. Bell GI, Selby MJ, Rutter WJ (1982) The highly polymorphic region near the insulin gene is composed of simple tandemly repeating sequences. Nature 295:31-35
3. Bell GI, Horita S, Karam JH (1984) A polymorphic locus near the human insulin gene is associated with human diabetes mellitus. Diabetes 33:176-183
4. Bennett ST, Todd JA (1996) Human type 1 diabetes and the insulin gene: Principles of mapping polygenes. Annu Rev Genet 30:343-370
5. Bennett ST, Lucassen AM, Gough SCL, Powell EE, Undlein DE, Pritchard LE, Merriman ME, Kawaguchi Y, Dronsfield MJ, Pociot F, Nerup J, Bouzekri N, Cambon-Thomsen A, Ronningen KS, Barnett AH, Bain SC, Todd JA (1995) Susceptibility to human type 1 diabetes at IDDM 2 is determined by tandem repeat variation at the insulin gene minisatellite locus. Nat Genet 9:284-292
6. Brinkmann B, Klintschar M, Neuhuber F, Hühne J, Rolf B (1998) Mutation rate in human microsatellites: Influence of the structure and length of the tandem repeat. Am J Hum Genet 62:1408-1415
7. Chen X, O'Dell SD, Hinks LJ, Spanakis E, Gaunt TR, Ganderton RH, Day INM (2001) High resolution MADGE. Trends in Genetics Technical Tips Online 1:116 T02156
8. Day INM, Humphries SE (1994) Electrophoresis for genotyping: Microplate array diagonal gel electrophoresis on horizontal polyacrylamide gels, Hydrolink or agarose. Anal Biochem 222:391-394
9. Day INM, O'Dell SD, Chen X (2000) Microplate array diagonal gel electrophoresis (MADGE) and the FluorImager 595. Life Science News, vol 4. Amershaw Pharmacia Biotech, Amersham, Buckinghamshire, UK
10. De Benedictis G, Carotenuto L, Carrieri G, De Luca M, Falcone E, Rose G, Cavalcanti S, Corsonello F, Feraco E, Baggio G, Bertolini S, Mari D, Mattace R, Yashin AI, Bonafe M, Franceschi C (1998) Gene/longevity association studies at four autosomal loci (REN, THO, PARP, SOD2). Eur J Hum Genet 6:534-541
11. Eaves IA, Bennett ST, Forster P, Ferber KM, Ehrmann D, Wilson AJ, Bhattacharyya S, Ziegler A-G, Brinkmann B, Todd JA (1999) Transmission ratio distortion at the INS-IGF2 VNTR. Nat Genet 22:324-325
12. Gray A, Tam TJ, Dull J, Hayflick J, Pintar J, Cavenee WK, Koufos A, Ullrich A (1987) Tissue-specific and developmentally regulated transcription of the insulin-like growth factor 2 gene. DNA 6:283-295
13. Gu DF, Hinks LJ, Morton NE, Day INM (2000) The use of long PCR to confirm three common alleles at the CYP2A6 locus and the relationship between genotype and smoking habit. Ann Hum Genet 64:383-390
14. Healey CS, Dunning A, Teare MD, Chase D, Parker L, Burn J, Chang-Claude J, Mannermaa A, Kataja V, Huntsman DG, Pharoah PDP, Luben RN, Easton DF, Ponder BAJ (2000) A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability. Nat Genet 26:362-364
15. Hubert HB (1984) The nature of the relationship between obesity and cardiovascular disease. Int J Cardiol 6:268-274
16. Jeffreys AJ, Royle NJ, Wilson V, Wong Z (1988) Spontaneous mutation rates to new length alleles at tandem-repetitive hypervariable loci in human DNA. Nature 332:278-281
17. Jeffreys AJ, Tamaki K, MacLeod A, Monckton DG, Neil DL, Armour JAL (1994) Complex gene conversion events in germline mutation at human minisatellites. Nat Genet 6:136-145
18. Julier C, Hyer RN, Davies J, Merlin F, Soularue P, Briant L, Cathelineau G, Deschamps I, Rotter JI, Froguel P, Boitard C, Bell JI, Lathrop GM (1991) Insulin-IGF2 region on chromosome 11p encodes a gene implicated in HLA-DR4-dependent diabetes susceptibility. Nature 354:155-159
19. Levinson GL, Gutman GA (1987) Slipped strand mispairing: A major mechanism for DNA sequence evolution. Mol Biol Evol 4:203-221
20. Li W-H, Grauer D (1991) Fundamentals of Molecular Evolution. Sinauer, Sunderland
21. Lucassen AM, Julier CJ, Beressi, J-P, Boitard C, Froguel P, Lathrop M, Bell J (1993) Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR. Nat Genet 4:305-310
22. MacGinnis RE, Spielman RS (1995) Insulin gene 5′ flanking polymorphism: Length of class I alleles in number of repeat units. Diabetes 44:1296-1302
23. Miller GJ, Bauer KA, Barzegar S, Cooper JA, Rosenberg RD (1996) Increased activation of the haemostatic system in men at high risk of fatal coronary heart disease. Thromb Haemost 75:767-771
24. Morton NE, Collins A (1998) Tests and estimates of allelic association in complex inheritance. Proc Natl Acad Sci USA 95:11389-11393
25. O'Dell SD, Miller GJ, Cooper JA, Hindmarsh PC, Pringle PJ, Ford H, Humphries SE, Day INM (1997) ApaI polymorphism in IGF2 gene and weight in middle-aged males. Int J Obesity 21:822-825
26. O'Dell SD, Bujac SR, Miller GJ, Day INM (1999) Associations of IGF2 ApaI RFLP and INS VNTR class I allele size with obesity. Eur J Hum Genet 7:821-827
27. O'Dell SD, Gaunt TR, Day INM (2000a) SNP genotyping by combination of 192-well MADGE, ARMS and computerised gel image analysis. BioTechniques 29:500-502, 504, 506
28. O'Dell SD, Chen X, Day INM (2000b) Higher resolution microplate array diagonal gel electrophoresis: Application to a multiallelic minisatellite. Hum Mutat 15:565-576
29. Polymeropoulos MH, Xiao H, Rath DS, Merril CR (1991) Tetranucleotide repeat polymorphism at the human tyrosine hydroxylase gene (TH). Nucleic Acids Res 19:3753
30. Povey S, Lovering R, Bruford E, Wright M, Lush M, Wain H (2001) The HUGO Gene Nomenclature Committee (HGNC). Hum Genet DOI 10.1007/s00439-001-0615-0
31. n and reassignment of alleles in population analysis by using a locus specific allelic ladder. Am J Hum Genet 53:953-958
32. Reich DE, Cargill M, Bolk S, Ireland J, Sabeti PC, Richter DJ, Lavery T, Kouyoumjian R, Farhadian SF, Ward R, Lander ES (2001) Linkage disequilibrium in the human genome. Nature 411:199-204
33. Rice T, Sjostrom CD, Perusse L, Rao DC, Sjostrom L, Bouchard C (1999) Segregation analysis of body mass index in a large sample selected for obesity: The Swedish Obese Subjects Study. Obes Res 7:246-255
34. Smith GD, Gunnell D, Holly J (2000) Cancer and insulin-like growth factor-I: A potential mechanism linking the environment with cancer risk. BMJ 321:847-848
35. Tadokoro K, Fujii H, Inoue T, Yamada M (1991) Polymerase chain reaction (PCR) for detection of ApaI polymorphism at the insulin-like growth factor II gene (IGF2). Nucleic Acids Res 19:6967
36. Tahir MA, Herrera RJ, Khan AA, Kashyap VK, Duncan G, Barna C, Budowle B, Rowold DJ, Amjad M, Sinha S (2000) Distribution of HLA-DQA1, polymarker, CSF1PO, vWA, TH01, TPOX, D16S539, D7S820, D13S317, and D5S818 alleles in East Bengali and West Punjabi populations from Indo-Pak Subcontinent. J Forensic Sci 45:1320-1323
37. Weber JL, May PE (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 44:338-396
38. Weber JL, Wong C (1993) Mutation of human short tandem repeats. Hum Mol Genet 2:1123-1128