Bayat A, Stanley J K, Watson J S, Ferguson M W J, Ollier W E R
Hand Surgery Units, Wythenshawe Hospital, South Moor Road, Wythenshawe, Manchester M23 9LT, UK.
Br J Plast Surg. 2003 Jun;56(4):328-33. doi: 10.1016/s0007-1226(03)00176-0.
Dupuytren's disease (DD) is a benign fibroproliferative disease of unknown cause. It is a familial condition that commonly affects Caucasians. Genetic studies have yet to identify the genes involved in DD. Transforming growth factor beta (TGFbeta) family members are multifunctional; some play a central role in wound healing and fibrosis. Previous studies have implicated TGFbeta cytokines and receptors in DD. In the light of this evidence, TGFbeta receptors represent candidate susceptibility genes for this condition. In this study, we investigated the association of single nucleotide polymorphisms (SNPs) in TGFbeta receptors one, two and three (TGFbetaRI, RII and RIII) with the risk of DD formation. A polymerase chain reaction-restriction fragment length polymorphism method was used for genotyping novel and known TGFbeta receptor polymorphisms. DNA samples from 183 DD patients and 181 controls were examined. There was a statistically significant difference (p<0.05) in genotype frequency distributions between cases and controls for TGFbetaRI polymorphisms in the recessive model. However, there were no significant difference in genotype or allele frequency distributions between cases and controls for the TGFbetaRII and TGFbetaRIII SNPs.
掌腱膜挛缩症（DD）是一种病因不明的良性纤维增生性疾病。它是一种常影响白种人的家族性疾病。基因研究尚未确定与掌腱膜挛缩症相关的基因。转化生长因子β（TGFβ）家族成员具有多种功能；有些在伤口愈合和纤维化中起核心作用。先前的研究已表明TGFβ细胞因子和受体与掌腱膜挛缩症有关。鉴于此证据，TGFβ受体代表了这种疾病的候选易感基因。在本研究中，我们调查了转化生长因子β受体一、二和三（TGFβRI、RII和RIII）中的单核苷酸多态性（SNP）与掌腱膜挛缩症形成风险的关联。采用聚合酶链反应-限制性片段长度多态性方法对新的和已知的TGFβ受体多态性进行基因分型。检测了183例掌腱膜挛缩症患者和181例对照的DNA样本。在隐性模型中，TGFβRI多态性的病例和对照之间的基因型频率分布存在统计学显著差异（p<0.05）。然而，TGFβRII和TGFβRIII SNP的病例和对照之间的基因型或等位基因频率分布没有显著差异。
