메뉴 건너뛰기




Volumn 26, Issue 2, 2009, Pages 162-166

Homozygous variant rs2076530 of BTNL2 and familial sarcoidosis

Author keywords

BTNL2; Co stimulatory molecule; Familial sarcoidosis; Rs2076530 SNP

Indexed keywords

ADULT; ALLELE; ARTICLE; BTNL2 GENE; CLINICAL ARTICLE; DISEASE SEVERITY; ENVIRONMENTAL FACTOR; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HOMOZYGOSITY; HUMAN; INFECTION; MALE; PENETRANCE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SARCOIDOSIS; T LYMPHOCYTE ACTIVATION;

EID: 77649248743     PISSN: 11240490     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (10)

References (29)
  • 1
    • 0032993499 scopus 로고    scopus 로고
    • Familial sarcoidosis in Finland and Hokkaido, Japan - a comparative study
    • Pietinalho A, Ohmichi M, Hirasawa M, et al. Familial sarcoidosis in Finland and Hokkaido, Japan - a comparative study. Respir Med 1999; 93: 408-12.
    • (1999) Respir Med , vol.93 , pp. 408-412
    • Pietinalho, A.1    Ohmichi, M.2    Hirasawa, M.3
  • 2
    • 20144388906 scopus 로고    scopus 로고
    • Sarcoidosis is associated with a truncating splice site mutation in BTNL2
    • Valentonyte R, Hampe J, Huse K, et al. Sarcoidosis is associated with a truncating splice site mutation in BTNL2. Nat Genet 2005; 37: 357-64.
    • (2005) Nat Genet , vol.37 , pp. 357-364
    • Valentonyte, R.1    Hampe, J.2    Huse, K.3
  • 3
    • 0035251711 scopus 로고    scopus 로고
    • The cluster of BTN genes in the extended major histocompatibility complex
    • Rhodes DA, Stammers M, Malcherek G, et al. The cluster of BTN genes in the extended major histocompatibility complex. Genomics 2001; 71: 351-62.
    • (2001) Genomics , vol.71 , pp. 351-362
    • Rhodes, D.A.1    Stammers, M.2    Malcherek, G.3
  • 4
    • 33744914590 scopus 로고    scopus 로고
    • BTNL2, a butyrophilin-like molecule that functions to inhibit T cell activation
    • Nguyen T, Liu XK, Zhang Y, et al. BTNL2, a butyrophilin-like molecule that functions to inhibit T cell activation. J Immunol 2006; 176: 7354-60.
    • (2006) J Immunol , vol.176 , pp. 7354-7360
    • Nguyen, T.1    Liu, X.K.2    Zhang, Y.3
  • 5
    • 0000637203 scopus 로고
    • Knochveranderunger bei lupus pernio.
    • Martenstein H. Knochveranderunger bei lupus pernio. Zentralb Haut Geschl Kr 1923; 7: 308-12.
    • (1923) Zentralb Haut Geschl Kr , vol.7 , pp. 308-312
    • Martenstein, H.1
  • 6
    • 0015849955 scopus 로고
    • Familial associations in sarcoidosis
    • British Thoracic and Tuberculosis Association
    • British Thoracic and Tuberculosis Association. Familial associations in sarcoidosis. Tubercle 1973; 54: 87-98.
    • (1973) Tubercle , vol.54 , pp. 87-98
  • 8
    • 0021343488 scopus 로고
    • High prevalence of familial sarcoidosis in an Irish population
    • Brennan NJ, Crean P, Long JP, et al. High prevalence of familial sarcoidosis in an Irish population. Thorax 1984; 39: 14-8.
    • (1984) Thorax , vol.39 , pp. 14-18
    • Brennan, N.J.1    Crean, P.2    Long, J.P.3
  • 9
    • 0029915783 scopus 로고    scopus 로고
    • Heterogeneity of familial risk in sarcoidosis
    • Rybicki BA, Harrington D, Major M, et al. Heterogeneity of familial risk in sarcoidosis. Genet Epidemiol 1996; 13: 23-33.
    • (1996) Genet Epidemiol , vol.13 , pp. 23-33
    • Rybicki, B.A.1    Harrington, D.2    Major, M.3
  • 11
    • 20244381341 scopus 로고    scopus 로고
    • Familial aggregation of sarcoidosis. A case-control etiologic study of sarcoidosis (ACCESS)
    • Rybicki BA, Iannuzzi MC, Frederick MM, et al. Familial aggregation of sarcoidosis. A case-control etiologic study of sarcoidosis (ACCESS). Am J Respir Crit Care Med 2001; 164: 2085-91.
    • (2001) Am J Respir Crit Care Med , vol.164 , pp. 2085-2091
    • Rybicki, B.A.1    Iannuzzi, M.C.2    Frederick, M.M.3
  • 13
    • 0012877789 scopus 로고    scopus 로고
    • Five cases of sarcoidosis in one family: A new immunological link?
    • Elford J, Fitch P, Kaminski E, et al. Five cases of sarcoidosis in one family: a new immunological link? Thorax 2000; 55: 343-4.
    • (2000) Thorax , vol.55 , pp. 343-344
    • Elford, J.1    Fitch, P.2    Kaminski, E.3
  • 14
    • 0035863931 scopus 로고    scopus 로고
    • Familial risk ratio of sarcoidosis in African-American sibs and parents
    • Rybicki BA, Kirkey KL, Major M, et al. Familial risk ratio of sarcoidosis in African-American sibs and parents. Am J Epidemiol 2001; 153: 188-93.
    • (2001) Am J Epidemiol , vol.153 , pp. 188-193
    • Rybicki, B.A.1    Kirkey, K.L.2    Major, M.3
  • 15
    • 0031933171 scopus 로고    scopus 로고
    • Sarcoidosis: Family contact study
    • Fité E, Alsina JM, Antó JM, et al. Sarcoidosis: family contact study. Respiration 1998; 65: 34-9.
    • (1998) Respiration , vol.65 , pp. 34-39
    • Fité, E.1    Alsina, J.M.2    Antó, J.M.3
  • 17
    • 33748855564 scopus 로고    scopus 로고
    • SAGA Study Consortium.Comparison of sarcoidosis phenotypes among affected African-American siblings
    • Judson MA, Hirst K, Iyengar SK, Rybicki BA, et al. SAGA Study Consortium.Comparison of sarcoidosis phenotypes among affected African-American siblings. Chest 2006; 130: 855-62.
    • (2006) Chest , vol.130 , pp. 855-862
    • Judson, M.A.1    Hirst, K.2    Iyengar, S.K.3    Rybicki, B.A.4
  • 18
    • 33645069390 scopus 로고    scopus 로고
    • BTNL2 gene variant and sarcoidosis
    • Li Y,Wollnik B, Pabst S, et al. BTNL2 gene variant and sarcoidosis. Thorax 2006; 61: 273-4.
    • (2006) Thorax , vol.61 , pp. 273-274
    • Li, Y.1    Wollnik, B.2    Pabst, S.3
  • 20
    • 0032725068 scopus 로고    scopus 로고
    • The incidence, prevalence, and severity of sarcoidosis in New York City firefighters
    • Prezant DJ, Dhala A, Goldstein A, et al. The incidence, prevalence, and severity of sarcoidosis in New York City firefighters. Chest 1999; 116: 1183-93.
    • (1999) Chest , vol.116 , pp. 1183-1193
    • Prezant, D.J.1    Dhala, A.2    Goldstein, A.3
  • 21
    • 0031789221 scopus 로고    scopus 로고
    • Seasonal clustering of sarcoidosis presenting with erythema nodosum
    • Wilsher ML. Seasonal clustering of sarcoidosis presenting with erythema nodosum. Eur Respir J 1998; 12: 1197-9.
    • (1998) Eur Respir J , vol.12 , pp. 1197-1199
    • Wilsher, M.L.1
  • 23
    • 0023253825 scopus 로고
    • Epidemiology of sarcoidosis in the Isle of Man-1: A case controlled study
    • Parkes SA, Baker SB, Bourdillon RE, et al. Epidemiology of sarcoidosis in the Isle of Man-1: A case controlled study. Thorax 1987; 42: 420-6.
    • (1987) Thorax , vol.42 , pp. 420-426
    • Parkes, S.A.1    Baker, S.B.2    Bourdillon, R.E.3
  • 24
    • 0031661150 scopus 로고    scopus 로고
    • Sarcoidosis: Immunopathogenetic concepts and their clinical application
    • Müller-Quernheim J. Sarcoidosis: immunopathogenetic concepts and their clinical application. Eur Respir J 1998; 12: 716-38.
    • (1998) Eur Respir J , vol.12 , pp. 716-738
    • Müller-Quernheim, J.1
  • 25
    • 0032881310 scopus 로고    scopus 로고
    • ATS/ERS/WASOG statement on sarcoidosis. American Thoracic Society/European Respiratory Society/World Association of Sarcoidosis and other Granulomatous Disorders
    • Hunninghake GW, Costabel U, Ando M, et al. ATS/ERS/WASOG statement on sarcoidosis. American Thoracic Society/European Respiratory Society/World Association of Sarcoidosis and other Granulomatous Disorders. Sarcoidosis Vasc Diffuse Lung Dis 1999; 16: 149-73.
    • (1999) Sarcoidosis Vasc Diffuse Lung Dis , vol.16 , pp. 149-173
    • Hunninghake, G.W.1    Costabel, U.2    Ando, M.3
  • 26
    • 0026921578 scopus 로고
    • Epidemiology of sarcoidosis
    • James DG. Epidemiology of sarcoidosis. Sarcoidosis 1992; 9: 79-87.
    • (1992) Sarcoidosis , vol.9 , pp. 79-87
    • James, D.G.1
  • 27
    • 0035863931 scopus 로고    scopus 로고
    • Familial risk ratio of sarcoidosis in African-American sibs and parents
    • Rybicki BA, Kirkey KL, Major M, et al. Familial risk ratio of sarcoidosis in African-American sibs and parents. Am J Epidemiol 2001; 153: 188-93.
    • (2001) Am J Epidemiol , vol.153 , pp. 188-193
    • Rybicki, B.A.1    Kirkey, K.L.2    Major, M.3
  • 28
    • 0023106060 scopus 로고
    • Current concepts of the pathogenesis of sarcoidosis
    • Thomas PD, Hunninghake GW. Current concepts of the pathogenesis of sarcoidosis. Am Rev Respir Dis 1987; 135: 747-60.
    • (1987) Am Rev Respir Dis , vol.135 , pp. 747-760
    • Thomas, P.D.1    Hunninghake, G.W.2
  • 29
    • 33846491444 scopus 로고    scopus 로고
    • BTNL2, a butyrophilin/B7-like molecule, is a negative costimulatory molecule modulated in intestinal inflammation
    • Arnett HA, Escobar SS, Gonzalez-Suarez E, et al. BTNL2, a butyrophilin/B7-like molecule, is a negative costimulatory molecule modulated in intestinal inflammation. J Immunol 2007; 178: 1523-33.
    • (2007) J Immunol , vol.178 , pp. 1523-1533
    • Arnett, H.A.1    Escobar, S.S.2    Gonzalez-Suarez, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.