Protein tyrosine phosphatase non-receptor type 22 C1858T gene polymorphism in children with down syndrome and autoimmune thyroid diseases
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 child...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
PAGEPress Publications
2023-02-01
|
| Series: | La Pediatria Medica e Chirurgica |
| Subjects: | |
| Online Access: | https://pediatrmedchir.org/pmc/article/view/283 |
| _version_ | 1797900260768481280 |
|---|---|
| author | Muhammad Faizi Nur Rochmah Soetjipto Soetjipto Anang Endaryanto Sukmawati Basuki Yuni Hisbiyah Rayi Kurnia Perwitasari |
| author_facet | Muhammad Faizi Nur Rochmah Soetjipto Soetjipto Anang Endaryanto Sukmawati Basuki Yuni Hisbiyah Rayi Kurnia Perwitasari |
| author_sort | Muhammad Faizi |
| collection | DOAJ |
| description |
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.
|
| first_indexed | 2024-04-10T08:42:08Z |
| format | Article |
| id | doaj.art-073269a85f794864b5b0e5a2212313d6 |
| institution | Directory Open Access Journal |
| issn | 0391-5387 2420-7748 |
| language | English |
| last_indexed | 2024-04-10T08:42:08Z |
| publishDate | 2023-02-01 |
| publisher | PAGEPress Publications |
| record_format | Article |
| series | La Pediatria Medica e Chirurgica |
| spelling | doaj.art-073269a85f794864b5b0e5a2212313d62023-02-22T17:57:08ZengPAGEPress PublicationsLa Pediatria Medica e Chirurgica0391-53872420-77482023-02-0145110.4081/pmc.2023.283Protein tyrosine phosphatase non-receptor type 22 C1858T gene polymorphism in children with down syndrome and autoimmune thyroid diseasesMuhammad Faizi0Nur Rochmah1Soetjipto Soetjipto2Anang Endaryanto3Sukmawati Basuki4Yuni Hisbiyah5Rayi Kurnia Perwitasari6Department of Child Health, Faculty of Medicine, Dr. Soetomo General Hospital, Universitas Airlangga, Surabaya, East JavaDoctoral Program of Medical Science, Faculty of Medicine, Universitas Airlangga, Surabaya, East JavaDepartment of Medical Biochemistry, Faculty of Medicine, Universitas Airlangga, Surabaya, East Java, Indonesia; Doctoral Program of Medical Science, Faculty of Medicine, Universitas Airlangga, Surabaya, East JavaDepartment of Child Health, Faculty of Medicine, Dr. Soetomo General Hospital, Universitas Airlangga, Surabaya, East Java, Indonesia; Doctoral Program of Medical Science, Faculty of Medicine, Universitas Airlangga, Surabaya, East JavaDoctoral Program of Medical Science, Faculty of Medicine, Universitas Airlangga, Surabaya, East Java, Indonesia; Department of Parasitology, Faculty of Medicine, Universitas Airlangga, Surabaya, East Java,Department of Child Health, Faculty of Medicine, Dr. Soetomo General Hospital, Universitas Airlangga, Surabaya, East Java, Indonesia; Doctoral Program of Medical Science, Faculty of Medicine, Universitas Airlangga, Surabaya, East JavaDepartment of Child Health, Faculty of Medicine, Dr. Soetomo General Hospital, Universitas Airlangga, Surabaya, East Java 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. https://pediatrmedchir.org/pmc/article/view/283PTPN-22 C1858T polymorphismhypothyroidismdown syndromeautoimmunity |
| spellingShingle | Muhammad Faizi Nur Rochmah Soetjipto Soetjipto Anang Endaryanto Sukmawati Basuki Yuni Hisbiyah Rayi Kurnia Perwitasari Protein tyrosine phosphatase non-receptor type 22 C1858T gene polymorphism in children with down syndrome and autoimmune thyroid diseases La Pediatria Medica e Chirurgica PTPN-22 C1858T polymorphism hypothyroidism down syndrome autoimmunity |
| title | Protein tyrosine phosphatase non-receptor type 22 C1858T gene polymorphism in children with down syndrome and autoimmune thyroid diseases |
| title_full | Protein tyrosine phosphatase non-receptor type 22 C1858T gene polymorphism in children with down syndrome and autoimmune thyroid diseases |
| title_fullStr | Protein tyrosine phosphatase non-receptor type 22 C1858T gene polymorphism in children with down syndrome and autoimmune thyroid diseases |
| title_full_unstemmed | Protein tyrosine phosphatase non-receptor type 22 C1858T gene polymorphism in children with down syndrome and autoimmune thyroid diseases |
| title_short | Protein tyrosine phosphatase non-receptor type 22 C1858T gene polymorphism in children with down syndrome and autoimmune thyroid diseases |
| title_sort | protein tyrosine phosphatase non receptor type 22 c1858t gene polymorphism in children with down syndrome and autoimmune thyroid diseases |
| topic | PTPN-22 C1858T polymorphism hypothyroidism down syndrome autoimmunity |
| url | https://pediatrmedchir.org/pmc/article/view/283 |
| work_keys_str_mv | AT muhammadfaizi proteintyrosinephosphatasenonreceptortype22c1858tgenepolymorphisminchildrenwithdownsyndromeandautoimmunethyroiddiseases AT nurrochmah proteintyrosinephosphatasenonreceptortype22c1858tgenepolymorphisminchildrenwithdownsyndromeandautoimmunethyroiddiseases AT soetjiptosoetjipto proteintyrosinephosphatasenonreceptortype22c1858tgenepolymorphisminchildrenwithdownsyndromeandautoimmunethyroiddiseases AT anangendaryanto proteintyrosinephosphatasenonreceptortype22c1858tgenepolymorphisminchildrenwithdownsyndromeandautoimmunethyroiddiseases AT sukmawatibasuki proteintyrosinephosphatasenonreceptortype22c1858tgenepolymorphisminchildrenwithdownsyndromeandautoimmunethyroiddiseases AT yunihisbiyah proteintyrosinephosphatasenonreceptortype22c1858tgenepolymorphisminchildrenwithdownsyndromeandautoimmunethyroiddiseases AT rayikurniaperwitasari proteintyrosinephosphatasenonreceptortype22c1858tgenepolymorphisminchildrenwithdownsyndromeandautoimmunethyroiddiseases |