Department of Anatomy, College of Medicine, King Khalid University, Abha 62529, Saudi Arabia.
Genomics and Personalized Medicine Unit, The Centre for Medical and Health Research, College of Medicine, King Khalid University, Abha 62529, Saudi Arabia.
Medicina (Kaunas). 2024 Oct 1;60(10):1611. doi: 10.3390/medicina60101611.
: Alopecia areata (AA) is a tissue-specific immune-mediated disorder that affects hair follicles and the nail apparatus. Due to the collapse of hair follicle immune privilege in AA, hair loss ranges in severity from small, localized patches on the scalp to the loss of entire body hair. Although AA is of uncertain etiology, the disease has a common genetic basis with a number of other autoimmune diseases. : To identify candidate genes that confer susceptibility to AA in the Jordanian population and further understand the disease background, we performed DNA genotyping using case-control samples of 152 patients and 150 healthy subjects. : While no significant result was observed in the ten single-nucleotide polymorphisms (SNPs), rs4304840 variants showed significant associations with AA development within our cohort ( = 0.02). The strongest associations were for the codominant and recessive forms of rs4304840 ( = 0.023 and = 0.0061, respectively). : These findings suggest that gene variants may contribute to AA pathogenesis among Jordanians. Further advanced genetic analysis and functional investigations are required to elucidate the genetic basis of the disease.
斑秃(AA)是一种组织特异性的免疫介导性疾病,影响毛囊和甲床。由于 AA 中毛囊免疫特权的崩溃,脱发的严重程度从头皮上小而局限的斑块到全身毛发脱落不等。尽管 AA 的病因尚不确定,但该疾病与许多其他自身免疫性疾病有共同的遗传基础。
为了确定在约旦人群中导致 AA 易感性的候选基因,并进一步了解疾病背景,我们使用 152 例患者和 150 例健康对照样本进行了 DNA 基因分型。虽然在十个单核苷酸多态性(SNP)中没有观察到显著结果,但 rs4304840 变体在我们的队列中与 AA 发病显著相关( = 0.02)。rs4304840 的共显性和隐性形式的关联最强( = 0.023 和 = 0.0061,分别)。
这些发现表明基因变异可能导致约旦人群中 AA 的发病机制。需要进一步的高级遗传分析和功能研究来阐明该疾病的遗传基础。