Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma

Nature Genetics

Volumn 34, Issue 2, 2003, Pages 181-186

  Zhang, Youming ^a   Leaves, Nicholas I ^a   Anderson, Gavin G ^a   Ponting, Chris P ^b   Broxholme, John ^a   Holt, Richard ^a   Edser, Pauline ^a   Bhattacharyya, Sumit ^a   Dunham, Andy ^c   Adcock, Ian M ^d   Pulleyn, Louise ^d   Barnes, Peter J ^d   Harper, John I ^e   Abecasis, Gonçalo ^a   Cardon, Lon ^a   White, Melanie ^a   Burton, John ^c   Matthews, Lucy ^c   Mott, Richard ^a   Ross, Mark ^c   Cox, Roger ^a   Moffatt, Miriam F ^a   Cookson, William O C M ^a   more..

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; IMMUNOGLOBULIN E; PROTEIN PHF11; UNCLASSIFIED DRUG;

ADULT; ALLERGIC RHINITIS; ARTICLE; ASTHMA; ATOPIC DERMATITIS; CHROMOSOME 13Q; CONTROLLED STUDY; GENE; GENE EXPRESSION; GENE FUNCTION; GENE LOCUS; GENE MAPPING; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC TRANSCRIPTION; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; MAJOR CLINICAL STUDY; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PHF11 GENE; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ALLELES; ALTERNATIVE SPLICING; ASTHMA; CASE-CONTROL STUDIES; CHILD; CHROMOSOMES, HUMAN, PAIR 13; FEMALE; HAPLOTYPES; HUMANS; IMMUNOGLOBULIN E; MALE; MOLECULAR SEQUENCE DATA; POLYMORPHISM, SINGLE NUCLEOTIDE; QUANTITATIVE TRAIT LOCI; TISSUE DISTRIBUTION; ZINC FINGERS;

EID: 0037603549     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1166     Document Type: Article

References (32)

1. Jarvis, D. & Burney, P. ABC of allergies. The epidemiology of allergic disease. Br. Med. J. 316, 607-610 (1998).
2. Eiberg, H., Lind, P., Mohr, J. & Nielsen, L.S. Linkage relationship between the human immunoglobulin E polymorphism and marker systems. Cytogenet. Cell Genet. 40, 622 (1985).
3. Daniels, S.E. et al. A genome-wide search for quantitative trait loci underlying asthma. Nature 383, 247-250 (1996).
4. Kimura, K. et al. Linkage and association of atopic asthma to markers on chromosome 13 in the Japanese population. Hum. Mol. Genet. 8, 1487-1490 (1999).
5. Hizawa, N. et al. Genetic regulation of Dermatophagoides pteronyssinus-specific IgE responsiveness: a genome-wide multipoint linkage analysis in families recruited through 2 asthmatic sibs. Collaborative Study on the Genetics of Asthma (CSGA). J. Allergy Clin. Immunol. 102, 436-442 (1998).
6. Beyer, K. et al. Evidence for linkage of chromosome 5q31-q33 and 13q12-q14 markers to atopic dermatitis. J. Allergy Clin. Immunol. 101, 152 (1998).
7. Anderson, G.G. et al. Positive association to IgE levels and a physical map of the 13q14 atopy locus. Eur. J. Hum. Genet. 10, 266-270 (2002).
8. Palmer, L.J. et al. Independent inheritance of serum immunoglobulin E concentrations and airway responsiveness. Am. J. Respir. Crit. Care Med. 161, 1836-1843 (2000).
9. Risch, N.J. & Zhang, H. Mapping quantitative trait loci with extreme discordant sib pairs: sampling considerations. Am. J. Hum. Genet. 58, 836-843 (1996).
10. Gerrard, J., Rao, D. & Morton, N. A genetic study of immunoglobulin E. Am. J. Hum. Genet. 30, 46-58 (1978).
11. Burrows, B., Martinez, F., Halonen, M., Barbee, R. & Cline, M. Association of asthma with serum IgE levels and skin-test reactivity to allergens. N. Engl. J. Med. 320, 271-277 (1989).
12. Bhattacharyya, S., Leaves, N.I., Wiltshire, S., Cox, R. & Cookson, W.O. A high-density genetic map of the chromosome 13q14 atopy locus. Genomics 70, 286-291 (2000).
13. Abecasis, G.R. et al. Extent and distribution of linkage disequilibrium in three genomic regions. Am. J. Hum. Genet. 68, 191-197 (2001).
14. Chakravarti, A. Population genetics-making sense out of sequence. Nat. Genet. 21, 56-60 (1999).
15. Abecasis, G.R., Cherny, S.S., Cookson, W.O. & Cardon, L.R. Merlin - rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet. 30, 97-101 (2002).
16. Abecasis, G.R. & Cookson, W.O. GOLD - graphical overview of linkage disequilibrium. Bioinformatics 16, 182-183 (2000).
17. Abecasis, G.R., Cardon, L.R. & Cookson, W.O. A general test of association for quantitative traits in nuclear families. Am. J. Hum. Genet. 66, 279-292 (2000).
18. Hill, M.R. et al. Fc-ε RI-β polymorphism and risk of atopy in a general population sample. Br. Med. J. 311, 776-779 (1995).
19. Monks, S.A., Kaplan, N.L. & Weir, B.S. A comparative study of sibship tests of link-age and/or association. Am. J. Hum. Genet. 63, 1507-1516 (1998).
20. Scanlan, M.J. et al. Antigens recognized by autologous antibody in patients with renal-cell carcinoma. Int. J. Cancer83, 456-464 (1999).
21. Aasland, R., Gibson, T.J. & Stewart, A.F. The PHD finger: implications for chromatin-mediated transcriptional regulation. Trends Biochem. Sci. 20, 56-59 (1995).
22. Angioni, A. et al. Interstitial insertion of AF10 into the ALL1 gene in a case of infant acute lymphoblastic leukemia. Cancer Genet. Cytogenet. 107, 107-110 (1998).
23. Walker, W., Girardet, C. & Habener, J. Alternative exon splicing controls a translational switch from activator to repressor isoforms of transcription factor CREB during spermatogenesis. J. Biol. Chem. 271, 20145-20150 (1996).
24. Rea, S. et al. Regulation of chromatin structure by site-specific histone H3 methyl-transferases. Nature 406, 593-599 (2000).
25. Nakayama, J., Rice, J.C., Strahl, B.D., Allis, C.D. & Grewal, S.I. Role of histone H3 lysine 9 methylation in epigenetic control of heterochromatin assembly. Science 292, 110-113 (2001).
26. Nemergut, M.E., Mizzen, C.A., Stukenberg, T., Allis, C.D. & Macara, I.G. Chromatin docking and exchange activity enhancement of RCC1 by histones H2A and H2B. Science 292, 1540-1543 (2001).
27. Steinmetz, L.M. et al. Dissecting the architecture of a quantitative trait locus in yeast. Nature 416, 326-330 (2002).
28. Oscier, D.G. Cytogenetic and molecular abnormalities in chronic lymphocytic leukaemia. Blood Rev. 8, 88-97 (1994).
29. Cox, H.E. et al. Association of atopic dermatitis to the β subunit of the high affinity immunoglobulin E receptor. Br. J. Dermatol. 138, 182-187 (1998).
30. Pulleyn, L.J., Newton, R., Adcock, I.M. & Barnes, P.J. TGFβ1 allele association with asthma severity. Hum. Genet. 109, 623-627 (2001).
31. Kruglyak, L. & Nickerson, D.A. Variation is the spice of life. Nat. Genet. 27, 234-236 (2001).
32. Garlisi, C.G. et al. A unique mRNA initiated within a middle intron of WHSC1/MMSET encodes a DNA binding protein that suppresses human IL-5 transcription. Am. J. Respir. Cell Mol. Biol. 24, 90-98 (2001).