Protein tyrosine phosphatase non-receptor type 22 C1858T gene polymorphism in children with down syndrome and autoimmune thyroid diseases

Muhammad Faizi, - and Nur Rochmah, - and Soetjipto, - and Anang Endaryanto, - and Sukmawati Basuki, - and Yuni Hisbiyah, - and Rayi Kurnia Perwitasari, - (2022) Protein tyrosine phosphatase non-receptor type 22 C1858T gene polymorphism in children with down syndrome and autoimmune thyroid diseases. La Pediatria Medica e Chirurgica, 45 (283). ISSN 2420-7748

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Official URL: https://www.pediatrmedchir.org/pmc/article/view/28...

Abstract

Autoimmune Thyroid Disease (AIT) is a frequent comorbidity in Down Syndrome (DS). Protein Tyrosine Phosphatase Non- Receptor Type 22 C1858T (PTPN-22 C1858T) gene polymor- phisms have a role in the progression of AIT. The study on PTPN- 22 C1858T gene polymorphism as the risk factor of AIT in DS children is still limited. This study aims to evaluate PTPN-22 C1858T polymorphism in Indonesian DS children. A cross-sec- tional study involving 31 DS children with hypothyroidism (19 boys/12 girls) was conducted for ten months from February to November 2020 at Dr. Soetomo General Hospital Surabaya. The PTPN-22 C1858T gene polymorphism was analyzed using Polymerase Chain Reaction-Restriction-Fragment-Length Polymorphism (PCR-RFLP). Anti-Thyroid Peroxidase (Anti- TPO) and Anti-Thyroglobulin (Anti-TG), FT4, T3, and TSH lev- els were analyzed using Enzyme-Linked-Immunosorbent-Assay (ELISA). The mean age of the subjects was 19.45±17.3 months. The CT variant of PTPN-22 C1858T was observed in all subjects. The mean level of T3, FT4, and TSH were 1.59±0.45 ng/mL, 0.81±0.57 ng/mL, 0.22±0.21 μU/mL, respectively. Around 83.9% of patients suffered from central hypothyroidism, 12.9% from pri- mary hypothyroidism, and 3.2% from subclinical hypothyroidism. The positive anti-TG and anti-TPO were observed in 96.8% and 58.1%, respectively. CT variant was observed in Indonesian DS children who suffered from hypothyroidism.

Item Type: Article
Uncontrolled Keywords: PTPN-22 C1858T polymorphism, hypothyroidism, down syndrome, autoimmunity
Subjects: R Medicine > R Medicine (General)
R Medicine > RJ Pediatrics
Divisions: 01. Fakultas Kedokteran > Ilmu Kesehatan Anak (Sub Spesialis)
Creators:
CreatorsNIM
Muhammad Faizi, -NIDN8890900016
Nur Rochmah, -NIDN0029047909
Soetjipto, -NIDN0017025004
Anang Endaryanto, -NIDN8867700016
Sukmawati Basuki, -NIDN0005026503
Yuni Hisbiyah, -NIM011927017307
Rayi Kurnia Perwitasari, -UNSPECIFIED
Depositing User: Mrs Elok Dian Nuraeni
Date Deposited: 09 May 2023 08:10
Last Modified: 09 May 2023 08:10
URI: http://repository.unair.ac.id/id/eprint/126456
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