title: Chymase gene (CMA1) polymorphisms in Dutch and Japanese sarcoidosis patients.
abstract: BACKGROUND
  Chymase is released from mast cells following activation. Evidence suggests that chymase plays an important role in tissue injury and remodeling of the lungs, heart and skin.
  
  
  OBJECTIVE
  We postulated that chymase gene (CMA1) polymorphisms are associated with pulmonary fibrosis in Dutch and with cardiac and skin involvement in Japanese sarcoidosis patients.
  
  
  METHODS
  Dutch (n = 153) and Japanese (n = 122) sarcoidosis patients with controls (Dutch, n = 309; Japanese, n = 111) were studied. Pulmonary involvement in Dutch patients as well as clinical manifestations in Japanese patients was evaluated for association with five CMA1 polymorphisms.
  
  
  RESULTS
  The CMA1 polymorphisms were not associated with disease susceptibility in either population, or with radiographic evolution in the Dutch or with cardiac or skin involvement in the Japanese patients. The -526 T allele was associated with a lower iVC in Dutch patients.
  
  
  CONCLUSIONS
  The CMA1 polymorphisms studied do not contribute to disease susceptibility in Japanese or Dutch sarcoidosis patients. CMA1 polymorphisms do not influence radiographic evolution in Dutch sarcoidosis patients, nor do they predispose to cardiac or skin involvement in Japanese patients. However, the association between CMA1 -526 C/T and iVC in the Dutch patients suggests that chymase may modify the functional outcome of pulmonary sarcoidosis.
authors.affiliation: Department of Pulmonology, Heart Lung Centre Utrecht, St. Antonius Hospital, Nieuwegein, The Netherlands.
authors.forename: Adrian
authors.initials: A
authors.lastname: Kruit
authors.forename: Jan C
authors.initials: JC
authors.lastname: Grutters
authors.forename: Henk J T
authors.initials: HJ
authors.lastname: Ruven
authors.forename: Hiroe
authors.initials: H
authors.lastname: Sato
authors.forename: Takateru
authors.initials: T
authors.lastname: Izumi
authors.forename: Sonoko
authors.initials: S
authors.lastname: Nagai
authors.forename: Kenneth I
authors.initials: KI
authors.lastname: Welsh
authors.forename: Roland M
authors.initials: RM
authors.lastname: du Bois
authors.forename: Jules M M
authors.initials: JM
authors.lastname: van den Bosch
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D053818:Chymases / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006321:Heart / Q000502:physiology; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009426:Netherlands; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D011859:Radiography; D012189:Retrospective Studies; D017565:Sarcoidosis, Pulmonary / Q000000981:diagnostic imaging / Q000208:ethnology / Q000235:genetics*; D012867:Skin / Q000473:pathology; D044465:White People / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; C509226:CMA1 protein, human; D053818:Chymases