PDF(Pubmed)
Abstract：
Alopecia areata (AA) is a common non-scarring hair loss disease of defined patterns with varied patches size and body sites. The etiology of AA has a complex basis of autoimmunity, environment, and genetic variations. The latter factor is found to play a crucial role in AA risk. Thus, this study aimed to investigate the potential impact of specific immune-related gene polymorphisms among a cohort of Jordanian patients, which was previously reported in other populations. Blood samples of AA patients and control subjects were collected for genomic DNA (gDNA) extraction. Targeted single nucleotide polymorphisms (SNPs) of MASP2, TLR1, CTLA4, and C11orf30 were genotyped in duplicate using the Sequenom MassARRAY® system (iPLEX GOLD). Genotype and allele analysis reveals statistical differences in TLR1 rs4833095 (allele C, P = 0.044), MASP2 rs2273346 (genotype AA, P = 0.0026), and C11orf30 rs2155219 (genotype GG, P = 0.0069) distribution. These findings present the significant contribution of genetic variations in AA susceptibility in the Jordanian population, which is infrequently studied.
摘要：
斑秃（AA）是一种常见的非疤痕性脱发疾病，具有不同的斑块大小和身体部位。AA的病因具有复杂的自身免疫基础,环境,和遗传变异。发现后一个因素在AA风险中起着至关重要的作用。因此，这项研究旨在调查特定免疫相关基因多态性在约旦患者队列中的潜在影响，以前在其他人群中报道过。收集AA患者和对照受试者的血液样品用于基因组DNA(gDNA)提取。使用SequenomMassARRAY®系统（iPLEXGOLD）对MASP2，TLR1，CTLA4和C11orf30的靶向单核苷酸多态性（SNP）进行基因分型。基因型和等位基因分析显示TLR1rs4833095（等位基因C，P=0.044),MASP2rs2273346(基因型AA,P=0.0026),和C11orf30rs2155219(基因型GG，P=0.0069)分布。这些发现显示了遗传变异对约旦人群AA易感性的重要贡献，这是很少研究的。
