Protein tyrosine phosphatase non-receptor type 22 C1858T gene polymorphism in children with down syndrome and autoimmune thyroid diseases
| Title: | Protein tyrosine phosphatase non-receptor type 22 C1858T gene polymorphism in children with down syndrome and autoimmune thyroid diseases |
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| Authors: | Muhammad Faizi, Nur Rochmah, Soetjipto Soetjipto, Anang Endaryanto, Sukmawati Basuki, Yuni Hisbiyah, Rayi Kurnia Perwitasari |
| Source: | La Pediatria Medica e Chirurgica, Vol 45, Iss 1 (2023) |
| Publisher Information: | PAGEPress Publications, 2023. |
| Publication Year: | 2023 |
| Collection: | LCC:Pediatrics LCC:Surgery |
| Subject Terms: | PTPN-22 C1858T polymorphism, hypothyroidism, down syndrome, autoimmunity, Pediatrics, RJ1-570, Surgery, RD1-811 |
| More Details: | Autoimmune Thyroid Disease (AIT) is a frequent comorbidity in Down Syndrome (DS). Protein Tyrosine Phosphatase Non- Receptor Type 22 C1858T (PTPN-22 C1858T) gene polymorphisms 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-sectional 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 levels 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 primary 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. |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English Italian |
| ISSN: | 0391-5387 2420-7748 |
| Relation: | https://pediatrmedchir.org/pmc/article/view/283; https://doaj.org/toc/0391-5387; https://doaj.org/toc/2420-7748 |
| DOI: | 10.4081/pmc.2023.283 |
| Access URL: | https://doaj.org/article/073269a85f794864b5b0e5a2212313d6 |
| Accession Number: | edsdoj.073269a85f794864b5b0e5a2212313d6 |
| Database: | Directory of Open Access Journals |
| ISSN: | 03915387 24207748 |
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| DOI: | 10.4081/pmc.2023.283 |
| Published in: | La Pediatria Medica e Chirurgica |
| Language: | English Italian |