Doublesex and mab-3 related transcription factor 1 (DMRT1) is a sex-specific genetic determinant of childhood-onset asthma and is expressed in testis and macrophages

Journal of Allergy and Clinical Immunology

Volumn 138, Issue 2, 2016, Pages 421-431

  Schieck, Maximilian ^a,b   Schouten, Jan P ^c   Michel, Sven ^a   Suttner, Kathrin ^d   Toncheva, Antoaneta A ^a   Gaertner, Vincent D ^a   Illig, Thomas ^b,e   Lipinski, Simone ^f   Franke, Andre ^f   Klintschar, Michael ^b   Kalayci, Omer ^g   Sahiner, Umit M ^g   Birben, Esra ^g   Melén, Erik ^h,i   Pershagen, Göran ^h   Freidin, Maxim B ^j   Ogorodova, Ludmila M ^k   Granell, Raquel ^l   Henderson, John ^l   Brunekreef, Bert ^m,n   Smit, Henriëtte A ⁿ   Vogelberg, Christian ^o   von Berg, Andrea ^p   Bufe, Albrecht ^q   Heinzmann, Andrea ^r   Laub, Otto ^s   Rietschel, Ernst ^t   Simma, Burkhard ^u   Genuneit, Jon ^v   Jonigk, Danny ^b   Postma, Dirkje S ^c   Koppelman, Gerard H ^w   Vonk, Judith M ^c   Timens, Wim ^c   Boezen, H Marike ^c   Kabesch, Michael ^a,b   more..

^a UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^b HANNOVER MEDICAL SCHOOL   (Germany)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^e INSTITUTE OF EPIDEMIOLOGY   (Germany)

^f UNIVERSITY OF KIEL   (Germany)

^g HACETTEPE UNIVERSITY   (Turkey)

^h KAROLINSKA INSTITUTE   (Sweden)

ⁱ Sach's Childrens' Hospital   (Sweden)

^j RESEARCH INSTITUTE OF MEDICAL GENETICS   (Russian Federation)

^k SIBERIAN STATE MEDICAL UNIVERSITY   (Russian Federation)

^l UNIVERSITY OF BRISTOL   (United Kingdom)

^m UTRECHT UNIVERSITY   (Netherlands)

ⁿ UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^o DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^p Marien Hospital   (Germany)

^q RUHR UNIVERSITY BOCHUM   (Germany)

^r UNIVERSITY OF FREIBURG   (Germany)

^s Kinder und Jugendarztpraxis Laub   (Germany)

^t UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^u Landeskrankenhaus Feldkirch   (Austria)

^v UNIVERSITY OF ULM   (Germany)

^w UNIVERSITY OF GRONINGEN   (Netherlands)

more..

Author keywords

Asthma; DMRT1; genetic association; interaction; rs3812523; sex; single nucleotide polymorphism

Indexed keywords

DOUBLESEX AND MAB 3 RELATED TRANSCRIPTION FACTOR 1; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; DMRT1 PROTEIN;

ALLELE; ARTICLE; ASTHMA; CHILD; DISEASE PREDISPOSITION; GEL MOBILITY SHIFT ASSAY; GENE EXPRESSION; HEREDITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IN VITRO STUDY; LUCIFERASE ASSAY; LUNG ALVEOLUS MACROPHAGE; MACROPHAGE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SEX DETERMINATION; SINGLE NUCLEOTIDE POLYMORPHISM; TESTIS; ANTIBODY SPECIFICITY; BINDING SITE; CHROMOSOMAL MAPPING; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; IMMUNOLOGY; MALE; METABOLISM; ODDS RATIO; ONSET AGE; SEX DIFFERENCE;

AGE OF ONSET; ALLELES; ASTHMA; BINDING SITES; CHILD; CHROMOSOME MAPPING; FEMALE; GENE EXPRESSION; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; IMMUNOHISTOCHEMISTRY; LINKAGE DISEQUILIBRIUM; MACROPHAGES; MALE; ODDS RATIO; ORGAN SPECIFICITY; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; SEX FACTORS; TESTIS; TRANSCRIPTION FACTORS;

EID: 84958581900     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2015.12.1305     Document Type: Article

References (35)

1. 1 Almqvist, C., Worm, M., Leynaert, B., Impact of gender on asthma in childhood and adolescence: a GA2LEN review. Allergy 63 (2008), 47–57.
2. 2 Sears, M.R., Greene, J.M., Willan, A.R., Wiecek, E.M., Taylor, D.R., Flannery, E.M., et al. A longitudinal, population-based, cohort study of childhood asthma followed to adulthood. N Engl J Med 349 (2003), 1414–1422.
3. 3 Soto-Ramirez, N., Ziyab, A.H., Karmaus, W., Zhang, H., Kurukulaaratchy, R.J., Ewart, S., et al. Epidemiologic methods of assessing asthma and wheezing episodes in longitudinal studies: measures of change and stability. J Epidemiol 23 (2013), 399–410.
4. 4 Mandhane, P.J., Greene, J.M., Cowan, J.O., Taylor, D.R., Sears, M.R., Sex differences in factors associated with childhood- and adolescent-onset wheeze. Am J Respir Crit Care Med 172 (2005), 45–54.
5. 5 Schatz, M., Camargo, C.A. Jr., The relationship of sex to asthma prevalence, health care utilization, and medications in a large managed care organization. Ann Allergy Asthma Immunol 91 (2003), 553–558.
6. 6 Townsend, E.A., Miller, V.M., Prakash, Y.S., Sex differences and sex steroids in lung health and disease. Endocr Rev 33 (2012), 1–47.
7. 7 Genuneit, J., Sex-specific development of asthma differs between farm and nonfarm children: a cohort study. Am J Respir Crit Care Med 190 (2014), 588–590.
8. 8 Moffatt, M.F., Kabesch, M., Liang, L., Dixon, A.L., Strachan, D., Heath, S., et al. Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature 448 (2007), 470–473.
9. 9 Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A., Bender, D., et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81 (2007), 559–575.
10. 10 The International HapMap Consortium. The international HapMap project. Nature 426 (2003), 789–796.
11. 11 Abecasis, G.R., Altshuler, D., Auton, A., Brooks, L.D., Durbin, R.M., Gibbs, R.A., et al. A map of human genome variation from population-scale sequencing. Nature 467 (2010), 1061–1073.
12. 12 Riva, A., Kohane, I.S., A SNP-centric database for the investigation of the human genome. BMC Bioinformatics, 5, 2004, 33.
13. 13 Michel, S., Liang, L., Depner, M., Klopp, N., Ruether, A., Kumar, A., et al. Unifying candidate gene and GWAS Approaches in Asthma. PLoS One, 5, 2010, e13894.
14. 14 Suttner, K., Ruoss, I., Rosenstiel, P., Depner, M., Pinto, L.A., Schedel, M., et al. HLX1 gene variants influence the development of childhood asthma. J Allergy Clin Immunol 123 (2009), 82–88.e6.
15. 15 Barrett, J.C., Fry, B., Maller, J., Daly, M.J., Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21 (2005), 263–265.
16. 16 Adzhubei, I.A., Schmidt, S., Peshkin, L., Ramensky, V.E., Gerasimova, A., Bork, P., et al. A method and server for predicting damaging missense mutations. Nat Methods 7 (2010), 248–249.
17. 17 Frazer, K.A., Pachter, L., Poliakov, A., Rubin, E.M., Dubchak, I., VISTA: computational tools for comparative genomics. Nucleic Acids Res 32 (2004), W273–W279.
18. 18 Grabe, N., AliBaba2: context specific identification of transcription factor binding sites. In Silico Biol 2:suppl (2002), S1–S15.
19. 19 Matson, C.K., Zarkower, D., Sex and the singular DM domain: insights into sexual regulation, evolution and plasticity. Nat Rev Genet 13 (2012), 163–174.
20. 20 Schieck, M., Sharma, V., Michel, S., Toncheva, A.A., Worth, L., Potaczek, D.P., et al. A polymorphism in the TH2 locus control region is associated with changes in DNA methylation and gene expression. Allergy 69 (2014), 1171–1180.
21. 21 Hess, J., Angel, P., Schorpp-Kistner, M., AP-1 subunits: quarrel and harmony among siblings. J Cell Sci 117 (2004), 5965–5973.
22. 22 Myers, R.A., Scott, N.M., Gauderman, W.J., Qiu, W., Mathias, R.A., Romieu, I., et al. Genome-wide interaction studies reveal sex-specific asthma risk alleles. Hum Mol Genet 23 (2014), 5251–5259.
23. 23 Meyers, D.A., Bleecker, E.R., Holloway, J.W., Holgate, S.T., Asthma genetics and personalised medicine. Lancet Respir Med 2 (2014), 405–415.
24. 24 Chen, J.K., Heckert, L.L., Dmrt1 expression is regulated by follicle-stimulating hormone and phorbol esters in postnatal Sertoli cells. Endocrinology 142 (2001), 1167–1178.
25. 25 Raymond, C.S., Shamu, C.E., Shen, M.M., Seifert, K.J., Hirsch, B., Hodgkin, J., et al. Evidence for evolutionary conservation of sex-determining genes. Nature 391 (1998), 691–695.
26. 26 Jorgensen, A., Nielsen, J.E., Jensen, M.B., Graem, N., Rajpert-De Meyts, E., Analysis of meiosis regulators in human gonads: a sexually dimorphic spatio-temporal expression pattern suggests involvement of DMRT1 in meiotic entry. Mol Hum Reprod 18 (2012), 523–534.
27. 27 Turnbull, C., Rapley, E.A., Seal, S., Pernet, D., Renwick, A., Hughes, D., et al. Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. Nat Genet 42 (2010), 604–607.
28. 28 Barbaro, M., Balsamo, A., Anderlid, B.M., Myhre, A.G., Gennari, M., Nicoletti, A., et al. Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA. Eur J Hum Genet 17 (2009), 1439–1447.
29. 29 Matson, C.K., Murphy, M.W., Sarver, A.L., Griswold, M.D., Bardwell, V.J., Zarkower, D., DMRT1 prevents female reprogramming in the postnatal mammalian testis. Nature 476 (2011), 101–104.
30. 30 Krentz, A.D., Murphy, M.W., Sarver, A.L., Griswold, M.D., Bardwell, V.J., Zarkower, D., DMRT1 promotes oogenesis by transcriptional activation of Stra8 in the mammalian fetal ovary. Dev Biol 356 (2011), 63–70.
31. 31 Balhara, J., Gounni, A.S., The alveolar macrophages in asthma: a double-edged sword. Mucosal Immunol 5 (2012), 605–609.
32. 32 Ying, M., Chen, B., Tian, Y., Hou, Y., Li, Q., Shang, X., et al. Nuclear import of human sexual regulator DMRT1 is mediated by importin-beta. Biochim Biophys Acta 1773 (2007), 804–813.
33. 33 Aggarwal, A., Agrawal, D.K., Importins and exportins regulating allergic immune responses. Mediators Inflamm, 2014, 2014, 476357.
34. 34 Deshmane, S.L., Kremlev, S., Amini, S., Sawaya, B.E., Monocyte chemoattractant protein-1 (MCP-1): an overview. J Interferon Cytokine Res 29 (2009), 313–326.
35. 35 Schaarschmidt, H., Ellinghaus, D., Rodriguez, E., Kretschmer, A., Baurecht, H., Lipinski, S., et al. A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis. J Allergy Clin Immunol 136 (2015), 802–806.