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Gene Review

DEFB1  -  defensin, beta 1

Homo sapiens

Synonyms: BD-1, BD1, Beta-defensin 1, DEFB-1, DEFB101, ...
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Disease relevance of DEFB1


Psychiatry related information on DEFB1

  • US patients with schizophrenia/schizoaffective disorder (SZ/SZA, n = 331) and available parents from Pittsburgh (n = 344) were assayed for a smaller set of SNPs based on the results from the BD1 samples [5].

High impact information on DEFB1

  • These data suggest that hBD-1 plays an important role in innate immunity that is compromised in CF by its salt-dependent inactivation [6].
  • The karyotype of the cells is normal, they do not require interleukin-2 for growth, and do not contain human T-lymphotropic virus type I. However, the HBD-1 cells contain incomplete EBV genomes and express several EBV-determined antigens, including the early antigen type D, membrane antigens, but not EBV-determined nuclear antigen (EBNA) [7].
  • A cDNA for hBD-2 was identified by homology to hBD-1. hBD-2 is expressed diffusely throughout epithelia of many organs, including the lung, where it is found in the surface epithelia and serous cells of the submucosal glands [8].
  • Previous studies have implicated the novel peptide antibiotic human beta-defensin 1 (hBD-1) in the pathogenesis of cystic fibrosis [8].
  • In situ hybridization localized the HBD-1 mRNA in the epithelial layers of the loops of Henle, distal tubules, and the collecting ducts of the kidney and the epithelial layers of the vagina, ectocervix, endocervix, uterus, and fallopian tubes in the female reproductive tract [9].

Chemical compound and disease context of DEFB1


Biological context of DEFB1

  • To test whether DEFB1 genetic variants are associated with asthma, we genotyped 4 haplotype-tag SNPs in 517 asthmatic and 519 control samples from the Nurses' Health Study (NHS) and performed a case-control association analysis [13].
  • OBJECTIVE: We characterized the genetic diversity in the defensin beta-1 (DEFB1) locus and tested for an association between common genetic variants and asthma diagnosis [13].
  • In a previous large-scale gene expression profiling study of renal epithelial neoplasms, human beta-defensin-1 (DEFB1) was found to be significantly down-regulated in conventional clear cell (renal) carcinoma [1].
  • Portions of the DEFB1 gene were amplified, and each SNP was analyzed by a TaqMan assay, standardized with control DNA of known genotype [14].
  • DEFB1 displayed 10 common haplotypes, including one cosmopolitan haplotype [15].

Anatomical context of DEFB1

  • Additionally, cells obtained from bronchoalveolar lavage were analyzed by fluorescent activated cell sorting and immunostaining of cytospin preparations. hBD-1, hBD-2, and LL-37 were detected in lymphocytes and macrophages in the large airways, lung parenchyma, duodenum, and colon [16].
  • The goal of this study was to quantitatively assess the in vitro expression and inducibility profiles of human beta-defensins, HBD-1, HBD-2, and HBD-3 across a number of primary gingival keratinocyte cultures [17].
  • HBD-1, -2 and -3 mRNAs were detectable in papilloma samples from all RRP patients and the levels were higher than in normal oral mucosal tissues from healthy individuals [2].
  • Real-time PCR revealed that in all of 28 specimens of fresh liver, including specimens from patients with hepatolithiasis, PBC, PSC, CH-C and normal hepatic histology, hBD-1 messenger RNA was consistently expressed, whereas hBD-2 messenger RNA was selectively expressed in biliary epithelium of patients with hepatolithiasis [4].
  • Four cultured biliary epithelial cell lines consistently expressed hBD-1; in contrast these cell lines did not express hBD-2 spontaneously but were induced to express hBD-2 by treatment with Eschericia coli, lipopolysaccharide, interleukin-1beta or tumor necrosis factor-alpha [4].

Associations of DEFB1 with chemical compounds


Regulatory relationships of DEFB1


Other interactions of DEFB1

  • Subsequently, the NMR solution structures of HBD1 and HBD3 were determined using standard homonuclear techniques and compared with the previously determined solution structure of HBD2 [24].
  • Both HBD1 and HBD3 form well defined structures with backbone root mean square deviations of 0.451 and 0.616 A, respectively [24].
  • Moreover, frequent polymorphisms located in DEFB4 and DEFB104 were not in Hardy Weinberg equilibrium in all populations studied, while those in DEFB1 were in Hardy Weinberg equilibrium [25].
  • RT-PCR revealed CAP37 and HBD-1 mRNA in samples of healthy synovial membrane [26].
  • The results revealed that monocytes, monocyte-derived-macrophages (MDM), and monocyte-derived-dendritic cells (DC) all express human-beta-defensin-1 (hBD-1) mRNA. hBD-1 mRNA expression by monocytes and MDM was increased after activation with interferon-gamma (IFN-gamma) and/or lipopolysaccharide (LPS) in a dose- and time-dependent fashion [27].

Analytical, diagnostic and therapeutic context of DEFB1


  1. Cancer-specific loss of beta-defensin 1 in renal and prostatic carcinomas. Donald, C.D., Sun, C.Q., Lim, S.D., Macoska, J., Cohen, C., Amin, M.B., Young, A.N., Ganz, T.A., Marshall, F.F., Petros, J.A. Lab. Invest. (2003) [Pubmed]
  2. High level expression of human epithelial beta-defensins (hBD-1, 2 and 3) in papillomavirus induced lesions. Chong, K.T., Xiang, L., Wang, X., Jun, E.L., Xi, L.F., Schweinfurth, J.M. Virol. J. (2006) [Pubmed]
  3. Significance of human beta-defensins in the epithelial lining fluid of patients with chronic lower respiratory tract infections. Yanagi, S., Ashitani, J., Imai, K., Kyoraku, Y., Sano, A., Matsumoto, N., Nakazato, M. Clin. Microbiol. Infect. (2007) [Pubmed]
  4. Peptide antibiotic human beta-defensin-1 and -2 contribute to antimicrobial defense of the intrahepatic biliary tree. Harada, K., Ohba, K., Ozaki, S., Isse, K., Hirayama, T., Wada, A., Nakanuma, Y. Hepatology (2004) [Pubmed]
  5. Association study of eight circadian genes with bipolar I disorder, schizoaffective disorder and schizophrenia. Mansour, H.A., Wood, J., Logue, T., Chowdari, K.V., Dayal, M., Kupfer, D.J., Monk, T.H., Devlin, B., Nimgaonkar, V.L. Genes Brain Behav. (2006) [Pubmed]
  6. Human beta-defensin-1 is a salt-sensitive antibiotic in lung that is inactivated in cystic fibrosis. Goldman, M.J., Anderson, G.M., Stolzenberg, E.D., Kari, U.P., Zasloff, M., Wilson, J.M. Cell (1997) [Pubmed]
  7. Immortalization of human T lymphocytes after transfection of Epstein-Barr virus DNA. Stevenson, M., Volsky, B., Hedenskog, M., Volsky, D.J. Science (1986) [Pubmed]
  8. Human beta-defensin 2 is a salt-sensitive peptide antibiotic expressed in human lung. Bals, R., Wang, X., Wu, Z., Freeman, T., Bafna, V., Zasloff, M., Wilson, J.M. J. Clin. Invest. (1998) [Pubmed]
  9. Human beta-defensin-1: an antimicrobial peptide of urogenital tissues. Valore, E.V., Park, C.H., Quayle, A.J., Wiles, K.R., McCray, P.B., Ganz, T. J. Clin. Invest. (1998) [Pubmed]
  10. Expression of the peptide antibiotic human beta-defensin 1 in cultured gingival epithelial cells and gingival tissue. Krisanaprakornkit, S., Weinberg, A., Perez, C.N., Dale, B.A. Infect. Immun. (1998) [Pubmed]
  11. Glucose regulation of beta-defensin-1 mRNA in human renal cells. Malik, A.N., Al-Kafaji, G. Biochem. Biophys. Res. Commun. (2007) [Pubmed]
  12. Structural analysis of human beta-defensin-1 and its significance in urinary tract infection. Hiratsuka, T., Nakazato, M., Ihi, T., Minematsu, T., Chino, N., Nakanishi, T., Shimizu, A., Kangawa, K., Matsukura, S. Nephron (2000) [Pubmed]
  13. Association of defensin beta-1 gene polymorphisms with asthma. Levy, H., Raby, B.A., Lake, S., Tantisira, K.G., Kwiatkowski, D., Lazarus, R., Silverman, E.K., Richter, B., Klimecki, W.T., Vercelli, D., Martinez, F.D., Weiss, S.T. J. Allergy Clin. Immunol. (2005) [Pubmed]
  14. Single-nucleotide polymorphisms (SNPs) in human beta-defensin 1: high-throughput SNP assays and association with Candida carriage in type I diabetics and nondiabetic controls. Jurevic, R.J., Bai, M., Chadwick, R.B., White, T.C., Dale, B.A. J. Clin. Microbiol. (2003) [Pubmed]
  15. Single-nucleotide polymorphisms and haplotype analysis in beta-defensin genes in different ethnic populations. Jurevic, R.J., Chrisman, P., Mancl, L., Livingston, R., Dale, B.A. Genet. Test. (2002) [Pubmed]
  16. Antimicrobial peptides are present in immune and host defense cells of the human respiratory and gastroinstestinal tracts. Wah, J., Wellek, A., Frankenberger, M., Unterberger, P., Welsch, U., Bals, R. Cell Tissue Res. (2006) [Pubmed]
  17. Correlation between beta-defensin expression and induction profiles in gingival keratinocytes. Joly, S., Organ, C.C., Johnson, G.K., McCray, P.B., Guthmiller, J.M. Mol. Immunol. (2005) [Pubmed]
  18. Human {alpha}- and beta-Defensins Block Multiple Steps in Herpes Simplex Virus Infection. Hazrati, E., Galen, B., Lu, W., Wang, W., Ouyang, Y., Keller, M.J., Lehrer, R.I., Herold, B.C. J. Immunol. (2006) [Pubmed]
  19. Use of human reconstructed epidermis to analyze the regulation of beta-defensin hBD-1, hBD-2, and hBD-3 expression in response to LPS. Chadebech, P., Goidin, D., Jacquet, C., Viac, J., Schmitt, D., Staquet, M.J. Cell Biol. Toxicol. (2003) [Pubmed]
  20. Structural and functional characterization of hBD-1(Ser35), a peptide deduced from a DEFB1 polymorphism. Circo, R., Skerlavaj, B., Gennaro, R., Amoroso, A., Zanetti, M. Biochem. Biophys. Res. Commun. (2002) [Pubmed]
  21. Expression and activity of beta-defensins and LL-37 in the developing human lung. Starner, T.D., Agerberth, B., Gudmundsson, G.H., McCray, P.B. J. Immunol. (2005) [Pubmed]
  22. Studies of the biological properties of human beta-defensin 1. Pazgier, M., Prahl, A., Hoover, D.M., Lubkowski, J. J. Biol. Chem. (2007) [Pubmed]
  23. Effects of dexamethasone and cyclosporin A on human beta-defensin in corneal epithelial cells. Terai, K., Sano, Y., Kawasaki, S., Endo, K., Adachi, W., Hiratsuka, T., Ihiboshi, H., Nakazato, M., Kinoshita, S. Exp. Eye Res. (2004) [Pubmed]
  24. The solution structures of the human beta-defensins lead to a better understanding of the potent bactericidal activity of HBD3 against Staphylococcus aureus. Schibli, D.J., Hunter, H.N., Aseyev, V., Starner, T.D., Wiencek, J.M., McCray, P.B., Tack, B.F., Vogel, H.J. J. Biol. Chem. (2002) [Pubmed]
  25. Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations. Vankeerberghen, A., Scudiero, O., De Boeck, K., Macek, M., Pignatti, P.F., Van Hul, N., Nuytten, H., Salvatore, F., Castaldo, G., Zemkova, D., Vavrova, V., Cassiman, J.J., Cuppens, H. Genomics (2005) [Pubmed]
  26. Antimicrobial peptides are expressed and produced in healthy and inflamed human synovial membranes. Paulsen, F., Pufe, T., Conradi, L., Varoga, D., Tsokos, M., Papendieck, J., Petersen, W. J. Pathol. (2002) [Pubmed]
  27. Expression of beta-defensin 1 and 2 mRNA by human monocytes, macrophages and dendritic cells. Duits, L.A., Ravensbergen, B., Rademaker, M., Hiemstra, P.S., Nibbering, P.H. Immunology (2002) [Pubmed]
  28. Ultraviolet A1-induced downregulation of human beta-defensins and interleukin-6 and interleukin-8 correlates with clinical improvement in localized scleroderma. Kreuter, A., Hyun, J., Skrygan, M., Sommer, A., Bastian, A., Altmeyer, P., Gambichler, T. Br. J. Dermatol. (2006) [Pubmed]
  29. Chemical synthesis of beta-defensins and LEAP-1/hepcidin. Klüver, E., Schulz, A., Forssmann, W.G., Adermann, K. J. Pept. Res. (2002) [Pubmed]
  30. Increased concentrations of human beta-defensins in plasma and bronchoalveolar lavage fluid of patients with diffuse panbronchiolitis. Hiratsuka, T., Mukae, H., Iiboshi, H., Ashitani, J., Nabeshima, K., Minematsu, T., Chino, N., Ihi, T., Kohno, S., Nakazato, M. Thorax (2003) [Pubmed]
  31. Association between human beta defensin expression and cholesteatoma formation. Meyer, J.E., Schwaab, M., Beier, U.H., Görögh, T., Buchelt, T., Frese, K., Maune, S. Auris, nasus, larynx. (2006) [Pubmed]
  32. Production of beta-defensin antimicrobial peptides by maxillary sinus mucosa. Carothers, D.G., Graham, S.M., Jia, H.P., Ackermann, M.R., Tack, B.F., McCray, P.B. American journal of rhinology. (2001) [Pubmed]
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