Khan Khayyam, Zahid Muhammad, Ali Niaz, Attaullah Sobia, Ullah Mujeeb, Khan Khalid, Muhammad Ijaz, Abusharha Ali, Aschner Michael, Khan Haroon
Department of Zoology, Islamia College University, 25120 Peshawar, Pakistan.
Institute of Basic Medical Sciences Khyber Medical University, 25120 Peshawar, Pakistan.
Gene Rep. 2024 Sep;36. doi: 10.1016/j.genrep.2024.101950. Epub 2024 Jun 11.
The current study was conducted to assess the relationship between the STAT3 gene variants rs744166 and rs2293152 and autoimmune thyroid disorder in the Pakhtun population of the province, of Khyber Pakhtunkhwa, Pakistan. Blood was collected from 100 healthy individuals and 400 thyroid-disordered patients. Of these, one hundred were diagnosed with Hashimoto's thyroiditis (HT), while 32 were confirmed as Grave's disease (GD) patients. T3, T4, and TSH serum levels were checked to diagnose thyroid disorders. The blood was analyzed for anti-thyroid peroxidase antibodies (Anti-TPOAb) (AESKULISA- ATPO - elisa kit), (Germany), and thyroid stimulating hormone receptor antibodies (TSHRAb), TSHR Ab elisa kit (Diametra Italy), respectively. PCR was used to amplify the targeted STAT3 gene polymorphisms from rs744166 (301 bp) and rs2293152 (365 bp) sequences and then digested by specific restriction endonucleases (I) and I respectively. The disease displayed a female predominance. The genotype TC and CC of rs744166 showed a significant relationship with Grave's disease ( = 0.002, OR = 0.28, 95 % CI = 0.11-0.77) in patients. The C allele contributed significantly to the disease in GD patients. The SNP rs2293152 significantly differed between GD patients and control ( = 0.032, OR = 0.29, 95 % CI = 0.09-0.86). Similarly, the G and C alleles showed a significant ( = 0.02) difference between GD patients and the control. No significant association was found for both SNPs in Hashimoto's thyroiditis disease. It is concluded that the STAT3 gene (rs744166 and rs2293152) was found to have a potential role in autoimmunity in GD patients. Still, it needs further studies with larger sample sizes in the Pakhtun population to understand this relationship.
本研究旨在评估STAT3基因变异rs744166和rs2293152与巴基斯坦开伯尔-普赫图赫瓦省普什图族人群自身免疫性甲状腺疾病之间的关系。采集了100名健康个体和400名甲状腺疾病患者的血液。其中，100人被诊断为桥本甲状腺炎（HT），32人被确诊为格雷夫斯病（GD）患者。检测血清T3、T4和TSH水平以诊断甲状腺疾病。分别使用德国的AESKULISA - ATPO - elisa试剂盒和意大利的Diametra TSHR Ab elisa试剂盒检测血液中的抗甲状腺过氧化物酶抗体（Anti - TPOAb）和促甲状腺激素受体抗体（TSHRAb）。采用PCR扩增rs744166（301 bp）和rs2293152（365 bp）序列的靶向STAT3基因多态性，然后分别用特异性限制性内切酶I和I进行酶切。该疾病表现出女性为主的特点。rs744166的基因型TC和CC与患者的格雷夫斯病呈显著相关性（ = 0.002，OR = 0.28，95%CI = 0.11 - 0.77）。C等位基因在GD患者的疾病发生中起显著作用。SNP rs2293152在GD患者和对照组之间存在显著差异（ = 0.032，OR = 0.29，95%CI = 0.09 - 0.86）。同样，G和C等位基因在GD患者和对照组之间也存在显著差异（ = 0.02）。在桥本甲状腺炎疾病中，未发现这两个SNP有显著关联。研究得出结论，STAT3基因（rs744166和rs2293152）在GD患者的自身免疫中具有潜在作用。不过，仍需要在普什图族人群中进行更大样本量的进一步研究，以了解这种关系。
