Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis
โ Scribed by Ikuo Okafuji; Ryuta Nishikomori; Nobuo Kanazawa; Naotomo Kambe; Akihiro Fujisawa; Shin Yamazaki; Megumu Saito; Takakazu Yoshioka; Tomoki Kawai; Hidemasa Sakai; Hideaki Tanizaki; Toshio Heike; Yoshiki Miyachi; Tatsutoshi Nakahata
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 210 KB
- Volume
- 60
- Category
- Article
- ISSN
- 0004-3591
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## Abstract ## Background The aim of the study was to investigate the effect of functional polymorphisms in promoters of matrix metalloproteinase (MMP) 2, MMP-3, MMP-9, MMP-12 and plasminogen activator inhibitor (PAI) 1 genes on the growth rate of small abdominal aortic aneurysms (AAA). ## Method
Genotype-to-phenotype analysis reverses the classical approach to genetic disease in which an unknown genotype is sought for a known phenotype. This paper provides an example of genotype-to-phenotype analysis for the possible psychiatric effects of a missense mutation (H396Q) at a highly conserved r