Chymase gene (CMA1) polymorphisms in Dutch and Japanese sarcoidosis patients.
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.
Kruit
Adrian
A
Department of Pulmonology, Heart Lung Centre Utrecht, St. Antonius Hospital, Nieuwegein, The Netherlands.
Grutters
Jan C
JC
Ruven
Henk J T
HJ
Sato
Hiroe
H
Izumi
Takateru
T
Nagai
Sonoko
S
Welsh
Kenneth I
KI
du Bois
Roland M
RM
van den Bosch
Jules M M
JM
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*
D020413:3' Untranslated Regions; C509226:CMA1 protein, human; D053818:Chymases