Rochmah Nur, Faizi Muhammad, Nova Suhasta, Setyoningrum Retno Asih, Basuki Sukmawati, Endaryanto Anang
Faculty of Medicine, Department of Child Health, Dr. Soetomo General Hospital, Universitas Airlangga, Surabaya, East Java, Indonesia.
Institute of Tropical Disease, Universitas Airlangga, Surabaya, East Java, Indonesia.
Appl Clin Genet. 2022 Apr 29;15:19-25. doi: 10.2147/TACG.S359158. eCollection 2022.
CTLA-4 gene polymorphism plays an important role in children with type 1 diabetes mellitus (T1DM). However, data on this subject vary among different races and ethnics.
To analyze CTLA-4 CT-60 A/G and CTLA-4 1822 C/T gene polymorphism among children with T1DM compared to control.
The CTLA-4 CT-60 A/G and CTLA-4 1822 C/T gene polymorphism in children with T1DM using polymerase chain reaction-restriction fragment length polymorphism in 25 T1DM and 25 controls. The inclusion criteria were patients regularly controlled at the Pediatric Endocrine Outpatient Clinic of Dr. Soetomo Hospital, aged 4-18 years and willing to join this study and the exclusion criteria were T1DM patients hospitalized in the pediatric intensive care unit. In the control group, the inclusion criteria were healthy children, aged 4-18 years and willing to join this study. The exclusion criteria included children with ongoing infection, history of other autoimmune diseases, allergies, or malignancy.
The mean age was 12.48 years old, and the mean of T1DM onset was 9.28 years old. The CTLA-4 1822 T allele observed in 62% T1DM and 56% in control (p = 0.388, OR = 0.78, 95% CI = 0.44-1.37) and CTLA-4 CT-60 G allele observed in 52% T1DM and 58% in control (p = 0.393, OR = 1.27, 95% CI = 0.73-2.22). The C/T genotypes was significantly higher in control group (p = 0.045, OR = 3.27, 95% CI = 1.00-10.62). The A/G genotypes was commonly found in control group (p = 0.765, OR = 1.20, 95% CI = 0.37-3.86). The Javanese was the dominant ethnic group in our study.
The frequency of CTLA-4 CT-60 A/G polymorphism almost equivalent in T1DM and control group. However, CTLA-4 1822 C/T polymorphism was more prevalent in the control group; thus, this genotype may have a protective effect against T1DM.
细胞毒性T淋巴细胞相关抗原4（CTLA-4）基因多态性在1型糖尿病（T1DM）儿童中起重要作用。然而，不同种族和民族关于该主题的数据存在差异。
分析与对照组相比，T1DM儿童中CTLA-4 CT-60 A/G和CTLA-4 1822 C/T基因多态性。
采用聚合酶链反应-限制性片段长度多态性方法检测25例T1DM患儿和25例对照者的CTLA-4 CT-60 A/G和CTLA-4 1822 C/T基因多态性。纳入标准为在苏托莫博士医院儿科内分泌门诊定期接受治疗、年龄4至18岁且愿意参加本研究的患者，排除标准为在儿科重症监护病房住院的T1DM患者。对照组的纳入标准为年龄4至18岁且愿意参加本研究的健康儿童。排除标准包括正在感染的儿童、有其他自身免疫性疾病、过敏或恶性肿瘤病史的儿童。
平均年龄为12.48岁，T1DM发病的平均年龄为9.28岁。在62%的T1DM患者中观察到CTLA-4 1822 T等位基因，对照组中为56%（p = 0.388，比值比[OR]=0.78，95%可信区间[CI]=0.44-1.37）；在52%的T1DM患者中观察到CTLA-4 CT-60 G等位基因，对照组中为58%（p = 0.393，OR = 1.27，95% CI = 0.73-2.22）。对照组中C/T基因型显著更高（p = 0.045，OR = 3.27，95% CI =
