Milman Nils, Nielsen Ole Haagen, Hviid Thomas Vauvert F, Fenger Kirsten
Department of Medicine B, Division of Lung Transplantation, Rigshospitalet, Copenhagen University Hospital, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark.
Respiration. 2007;74(1):76-9. doi: 10.1159/000090638. Epub 2006 Jan 2.
Mutations of the caspase-activating recruitment domain 15 (CARD15) gene on chromosome 16 are associated with chronic inflammatory granulomatous bowel disease (Crohn's disease). Sarcoidosis is a systemic granulomatous disease with unknown etiology, which shares histological features with Crohn's disease.
To evaluate whether ethnic Danes with sarcoidosis have an increased frequency of CARD15 mutations compared to healthy control subjects.
Genotyping for CARD15 mutations R702W, G908R, and L1007fsinsC, also designated single nucleotide polymorphism (SNP) SNP8, SNP12 and SNP13, respectively, were performed by capillary electrophoresis single-strand confirmation polymorphism in 53 patients with histologically verified sarcoidosis and in 103 healthy controls.
The frequencies of CARD15 mutations in sarcoidosis patients were: SNP8, 4/106 chromosomes (3.8%); SNP12, 2/106 chromosomes (1.9%); SNP13, 2/106 chromosomes (1.9%); SNP8+SNP12+SNP13, 8/106 chromosomes (7.6%). All 8 patients were heterozygous. The frequencies in controls were: SNP8, 9/206 chromosomes (4.4%); SNP12, 2/206 chromosomes (1.0%); SNP13, 4/206 chromosomes (1.9%); SNP8+SNP12+SNP13, 15/206 chromosomes (7.3%). All controls were heterozygous. The differences were not statistically significant (p>0.05). Furthermore, the course of disease was not significantly different in the 8 patients with CARD15 mutations and the 45 patients without mutations.
The frequency of CARD15 mutations is not increased in ethnic Danish patients with sarcoidosis, and heterozygosity for such mutations apparently has no influence on the course of disease.
16号染色体上的半胱天冬酶激活募集结构域15（CARD15）基因突变与慢性炎症性肉芽肿性肠病（克罗恩病）相关。结节病是一种病因不明的全身性肉芽肿性疾病，与克罗恩病具有共同的组织学特征。
评估与健康对照者相比，患结节病的丹麦族人CARD15基因突变频率是否增加。
采用毛细管电泳单链构象多态性技术，对53例经组织学证实的结节病患者和103名健康对照者进行CARD15基因突变R702W、G908R和L1007fsinsC（也分别称为单核苷酸多态性（SNP）SNP8、SNP12和SNP13）的基因分型。
结节病患者中CARD15基因突变频率分别为：SNP8，4/106条染色体（3.8%）；SNP12，2/106条染色体（1.9%）；SNP13，2/106条染色体（1.9%）；SNP8+SNP12+SNP13，8/106条染色体（7.6%）。所有8例患者均为杂合子。对照者中的频率分别为：SNP8，9/206条染色体（4.4%）；SNP12，2/206条染色体（1.0%）；SNP13，4/206条染色体（1.9%）；SNP8+SNP12+SNP13，15/206条染色体（7.3%）。所有对照者均为杂合子。差异无统计学意义（p>0.05）。此外，8例携带CARD15基因突变的患者与45例未发生突变的患者的病程差异无统计学意义。
患结节病的丹麦族患者中CARD15基因突变频率未增加，此类突变的杂合性显然对病程无影响。
