Young C, Allen M H, Cuthbert A, Ameen M, Veal C, Leman J, Burden A D, Kirby B, Griffiths C E M, Trembath R C, Mathew C G, Barker J N W N
St. John's Institute of Dermatology, Guy's, Kings & St Thomas' School of Medicine, London, UK.
Exp Dermatol. 2003 Aug;12(4):506-9. doi: 10.1034/j.1600-0625.2002.120420.x.
A C-insertion polymorphism in the NOD2 gene (3020insC) on chromosome 16 is a rare mutation associated with Crohn's disease. Crohn's disease and psoriasis are more commonly observed together than expected by chance. Furthermore a susceptibility locus for psoriasis has been identified on chromosome 16q which overlaps the recently identified susceptibility locus for Crohn's disease. Thus, NOD2 may potentially be important as a candidate susceptibility gene for psoriasis. We tested this hypothesis by genotyping psoriasis patients for the C-insertion polymorphism using the Taqman ABI 7700 sequencing system. No statistically significant differences were observed between psoriasis vulgaris (n = 216), palmo-plantar pustular psoriasis (PPP) (n = 100), guttate psoriasis (n = 118) and the control group (n = 283). In both patient and control groups, no mutant homozygotes were observed and approximately 4% were heterozygotes. This particular insertion mutation in the NOD2 gene does not appear to contribute to the genetic susceptibility of psoriasis vulgaris, PPP or guttate psoriasis. However, other mutations exist in the NOD2 gene, which may potentially have a role in psoriasis susceptibility.
16号染色体上NOD2基因的一个C插入多态性(3020insC)是一种与克罗恩病相关的罕见突变。克罗恩病和银屑病同时出现的情况比偶然预期的更为常见。此外,已在16q染色体上确定了一个银屑病易感位点,该位点与最近确定的克罗恩病易感位点重叠。因此,NOD2作为银屑病的候选易感基因可能具有重要意义。我们使用Taqman ABI 7700测序系统对银屑病患者的C插入多态性进行基因分型,以验证这一假设。在寻常型银屑病(n = 216)、掌跖脓疱型银屑病(PPP)(n = 100)、点滴状银屑病(n = 118)与对照组(n = 283)之间未观察到统计学上的显著差异。在患者组和对照组中,均未观察到突变纯合子,约4%为杂合子。NOD2基因中的这种特定插入突变似乎对寻常型银屑病、PPP或点滴状银屑病的遗传易感性没有影响。然而,NOD2基因中存在其他突变,这些突变可能在银屑病易感性中发挥作用。