The role of functional single nucleotide polymorphisms of the human glucocorticoid receptor gene NR3C1 in Polish patients with bronchial asthma

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• 作者：Micha? Panek (1) michalmp@poczta.onet.pl
  Tadeusz Pietras (2) cital200@wp.pl
  Adam Antczak (2)
  Pawe? Górski (2) pawel.gorski@umed.lodz.pl
  Piotr Kuna (1) pkuna@barlicki.internetdsl.pl
  Janusz Szemraj (3) jszemraj@csk.am.lodz.pl
• 关键词：Glucocorticoid receptor gene polymorphism – SNP (single nucleotide polymorphism) – Inflammation – Resistance to steroids – NR3C1 gene
• 刊名：Molecular Biology Reports
• 出版年：2012
• 出版时间：April 2012
• 年：2012
• 卷：39
• 期：4
• 页码：4749-4757
• 全文大小：399.2 KB
• 参考文献：1. Droszcz W (2007) Astma. Wydawnictwo Lekarskie PZWL, Warszawa
  2. Duffy D, Martin N, Battistutta D et al (1990) Genetics of asthma and hay fever in Australian twins. Am Rev Respir Dis 142:1351–1358
  3. Cooke R, Vander Veer A (1916) Human sensitization. J Immunol 1:201–305
  4. National Asthma Education and Prevention Program Expert Panel Report 3: guidelines for the diagnosis and management of asthma full report (2007) National Heart, Lung, and Blood Institute. National Institute of Health, Bethesda
  5. Ober C (2005) Perspectives on the past decade of asthma genetics. J Allergy Clin Immunol 116:274–278
  6. Anderson G (2008) Endotyping asthma: new insights into key pathogenic mechanisms in a complex, heterogeneous disease. Lancet 372:1107–1119
  7. Kupczyk M (2011) Epigenetics of bronchial asthma. Terapia 4:65–69
  8. Heinzmann A, Deichmann K (2001) Genes for atopy and asthma. Curr Opin Allergy Clin Immunol 1:387–392
  9. Barnes P (1998) Glucocorticosteroids. W: Asthma: basic mechanisms and clinical management. Academic Press, San Diego
  10. Lane S, Lee T (1997) Mechanisms of corticosteroid resistance in asthmatic patients. Int Arch Allergy Immunol 113:193–195
  11. Leung D, Bloom J (2003) Update on glucocorticoid action and resistance. J Allergy Clin Immunol 111:3–22
  12. Bray P, Cotton R (2003) Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms. Hum Mutat 21:557–568
  13. DeRijk R, Schaaf M, de Kloet E (2002) Glucocorticoid receptor variants: clinical implications. J Steroid Biochem Mol Biol 81:103–122
  14. de Lange P, Koper J, Brinkmann A et al (1999) Natural variants of the beta-isoform of the human glucocorticoid receptor do not alter sensitivity to glucocorticoids. Mol Cell Endocrinol 153:163–168
  15. Panek M, Pietras T, Kupry?-Lipińska I (2010) The analysis of the factors influencing the development of glucocorticoid resistance in the etiopathogenesis of severe bronchial asthma. Post?py Biochem 56:373–382
  16. de Lange P, Koper J, Huizinga N et al (1997) Differential hormone-dependent transcriptional activation and repression by naturally accuring human glucocorticoid receptor variants. Mol Endocrinol 11:1156–1164
  17. Ruiz M, Lind U, Gafvels M et al (2001) Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance. Clin Endo 55:363–371
  18. Huizenga A, de Lange P, Koper J et al (2000) Five patients with biochemical and/or clinical generalized glucocorticoid resistance without alterations in the glucocorticoid receptor gene. J Clin Endo Met 85:2076–2081
  19. Dobson M, Redfern C, Unwin N et al (2001) The N363S polymorphism of the glucocorticoid receptor: potential contribution to central obesity in men and lack of association with other risk factors for coronary heart disease and diabetes mellitus. J Clin Endo Met 86:2270–2274
  20. Huizenga N, Koper J, de Lange P et al (1998) A polymorphism in the glucocorticoid receptor gene may be associated with an increased sensitivity to glucocorticoids. J Clin Endo Met 83:144–151
  21. Karl M, Lamberts S, Koper J et al (1996) Cushing′s disease preceded by generalized glucocorticoid resistance: clinical consequences of a novel, dominant-negative glucocorticoid receptor mutation. Proc Assoc Am Phys 108:296–307
  22. Muegge K, Willimans T, Kant W et al (1989) Interleukin-1 costimulatory activity on the interleukin-2 promoter via AP-1. Science 246:249–251
  23. Karl M, Lamberts S, Detera-Wadleigh S et al (1993) Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene. J Clin Endo Met 76:683–689
  24. Lamberts S, Koper J, Biemond P et al (1992) Cortisol receptor resistance: the variability of its clinical presentation and response to treatment. J Clin Endo Met 74:313–321
  25. Murray R, Granner D, Mayes P et al (1998) Biochemia harpera. Wydawnictwo Lekarskie PZWL 38:493
  26. Encío I, Detera-Wadleigh S (1991) The genomic structure of the human glucocorticoid receptor. J Biol Chem 266:7182–7188
  27. Murray R, Granner D, Mayes P et al (1998) Biochemia harpera. PZWL 39:524–525
  28. Rivers C, Levy A, Hancock J et al (1999) Insertion of an amino acid in the DNA-binding domain of the glucocorticoid receptor as a result of alternative splicing. J Clin Endocrinol Metab 84:4283–4286
  29. Adcock I, Lane S (2003) Corticosteroid-insensitive asthma: molecular mechanisms. J Endocrinol 178:347–355
  30. Huizenga N, Koper J, de Lange P et al (1998) A polymorphism in the glucocorticoid receptor gene may be associated with and increased sensitivity to glucocorticoids in vivo. J Clin Endocrinol Metab 83:144–151
  31. Cannings C, Edwards A (1968) Natural selection and the de Finetti diagram. Ann Hum Genet 31:421–428
  32. Elston R, Forthofer R (1977) Testing for Hardy–Weinberg equilibrium in small samples. Biometrics 33:536–542
  33. Mendell N, Simon G (1984) A general expression for the variance–covariance matrix of estimates of gene frequency: the effects of departures from Hardy–Weinberg equilibrium. Ann Hum Genet 48:283–286
  34. Smith C (1970) A note on testing the Hardy–Weinberg law. Ann Hum Genet 33:377–383
  35. Weir B (1996) Statitical data analysis II: methods for discrete population genetic data. Sinauer Associates, Massachusetts
  36. Sasieni P (1997) From genotypes to genes: doubling the sample size. Biometrics 53:1253–1261
  37. van Rossum E, Lamberts S (2004) Polymorphisms in the glucocorticoid receptor gene and their associations with metabolic parameters and body composition. Recent Prog Horm Res 59:333–357
  38. de Lange P, Koper J, Huienga N et al (1997) Differential hormone-dependent transcriptional activation and repression by naturally occurring human glucocorticoid receptor variants. Mol Endocrinol 11:156–1164
  39. van Rossum E, Voorhoeve P, Te Velde S et al (2004) The ER22/23EK polymorphism in the glucocorticoid receptor gene is associated with a benefi cial body composition and muscle strength in young adults. J Clin Endocrinol Metab 89:4004–4009
  40. Bulas M, Trelińska J, Stolarska M et al (2008) Association of steroid receptor gene (NR3C1) polymorphism with clinical course of lymphoproliferative disorders in children—preliminary results. Onkol Pol 2:77–81
• 作者单位：1. Department of Internal Medicine, Asthma and Allergy, Medical University of Lodz, Kopcińskiego 22, 90-153 Lodz, Poland2. Department of Pneumology and Allergology, Medical University of Lodz, Kopcińskiego 22, 90-153 Lodz, Poland3. Department of Medical Biochemistry, Medical University of Lodz, Mazowiecka 6/8, 92-215 Lodz, Poland
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Life Sciences
  Animal Anatomy, Morphology and Histology
  Animal Biochemistry
  
• 出版者：Springer Netherlands
• ISSN：1573-4978

文摘

N363S and ER22/23EK polymorphisms observed within glucocorticoid receptor gene (NR3C1) may play an important role in the development of bronchial asthma. NR3C1 gene is associated with an altered sensitivity to GCs. The aim of the research project was to study the correlation between this NR3C1 gene polymorphisms and occurrence of asthma in the population of Polish asthmatics. Peripheral blood was obtained from 207 healthy volunteers and 221 asthma patients. Genotyping was carried out with PCR-RFLP method. In the groups of patients with uncontrolled moderate asthma and uncontrolled severe disease, the genotype distribution for the investigated polymorphisms was as follows: N363S-AA, AG, GG occurring with 0.881/0.073/0.046 frequency and ER22/23EK-GG, GA, AA occurring with 0.963/0.037/0.000 frequency. Chi-square analysis revealed a significantly different (P < 0.05) distribution between cases and controls for the N363S polymorphisms. The N363S polymorphism of NR3C1 gene is significantly associated with bronchial asthma, susceptibility to the development of moderate to severe form of uncontrolled bronchial asthma.