Association of PTPN22 Haplotypes with Hashimotos Thyroiditis in Population of Novosibirsk

Nikitin, Yu. P.; Рымар, О. Д.; Maksimov, V. N.; Simonova, Galina; Zankina, M; Мустафина, С. В.; Щербакова, Л. В.; Чернова, Н. Н.; Voevoda, M.

doi:10.14341/ket20095147-52

Cited by 3 publications

(3 citation statements)

References 27 publications

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“…The CT genotype was reported more among Caucasians than in Asians with non-DS population with AIT, where the CC genotype was more prevalent, and no TT genotype was detected. [11][12][13][14][15][16][17] Yet, the CT genotype is not exclusive for AIT, it was reported in children with diabetes mellitus type 1 (T1DM), where it is more dominant followed by CC and TT, in vitiligo and immune skin diseases. [18][19][20] Central hypothyroidism was observed in 83.9% of participants.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2023

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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.

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Section: Discussionmentioning

confidence: 99%

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

et al. 2023

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“…При сравнитель-ном анализе половозрастных и основных клинико-лабораторных характеристик пациентов с АИЗ ЩЖ г. Новосибирска определено, что у каждого третьего пациента имеется отягощенный наследственный анамнез по заболеваниям ЩЖ: среди лиц с диффуз-ным токсическим зобом (ДТЗ) -30%, у пациентов с аутоиммунным тиреоидитом (АИТ) -44%. Выявлена связь носительства аллеля G и генотипа GG полиморфизма A49G гена CTLA4 с повышенным риском развития ДТЗ у мужчин [6]. Носительство аллеля T полиморфизма C1858T гена PTPN22 у жен-щин ассоциировано с повышенным риском разви-тия АИТ [7].…”

Section: обоснованиеunclassified

“…Было установлено пре-обладание в группе пациентов с АИТ гомозиготного генотипа TT и аллеля T полиморфизма C1858T гена PTPN22 по сравнению с группой здоровых. Носи-тельство аллеля T у женщин было ассоциировано с повышенным риском развития АИТ [6]. Аналогич-ные данные о связи данного ОНП с АИТ были полу-чены среди жителей Центральной Европы [18].…”

Section: результатыunclassified

Association of candidate gene polymorphisms for autoimmune thyroid diseases in patients with familial diffuse toxic goiter and autoimmune thyroiditis

et al. 2016

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Results of targeted sequencing of the <i>PRL, PRLR, PRLHR</i> genes in young women with non-tumor hyperprolactinemia

Shakhtshneider

Ivanoshchuk

Voevoda

et al. 2022

Sibirskij nauchnyj medicinskij zhurnal

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Aim. To study the spectrum of variants in the PRL, PRLR, PRLHR genes in women of reproductive age with non-tumor hyperprolactinemia. Material and methods. In women with non-tumor hyperprolactinemia (n = 15), targeted high-throughput sequencing of the PRL, PRLR, and PRLHR genes was performed. The target panel of genes included coding regions and adjacent splicing sites. Results. When analyzing the PRL, PRLR, PRLHR genes, a number of rare and common variants were identified. The common variant rs1205955 was found in the PRL gene (MAF А = 0.279). For the PRLR gene, a rare variant rs185353023 was identified in the 3’UTR (MAF А/С = 0.003) and 12 common variants. For the PRLHR gene, 10 common variants have been identified. The maximum number of variants was localized in the 3’UTR region and introns. Conclusions. For the first time in Russia, targeted high-throughput sequencing of the PRL, PRLR, PRLHR genes was performed, the results of which did not reveal obvious pathological variants in the studied genes in women with high prolactin content of non-tumor origin. The discovered polymorphism in these genes makes it possible to further study its association with impaired function of the prolactin link of hormonal regulation.

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Association of PTPN22 Haplotypes with Hashimotos Thyroiditis in Population of Novosibirsk

Cited by 3 publications

References 27 publications

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

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

Association of candidate gene polymorphisms for autoimmune thyroid diseases in patients with familial diffuse toxic goiter and autoimmune thyroiditis

Results of targeted sequencing of the <i>PRL, PRLR, PRLHR</i> genes in young women with non-tumor hyperprolactinemia

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