Analysis of PTPN 22, ZFAT and MYO 9B polymorphisms in Turner Syndrome and risk of autoimmune disease
Abstract
Summary Turner syndrome (TS) is one of the most common sexual chromosome abnormalities and is clearly associated with an increased risk of autoimmune diseases, particularly thyroid disease and coeliac disease (CD). Single‐nucleotide polymorphism analyses have been shown to provide correlative evidence that specific genes are associated with autoimmune disease. Our aim was to study the functional polymorphic variants of PTPN22 and ZFAT in relation to thyroid disease and those of MYO9B in relation to CD. A cross‐sectional comparative analysis was performed on Mexican mestizo patients with TS and age‐matched healthy females. Our data showed that PTPN22 C1858T (considered a risk variant) is not associated with TS (X2 = 3.50, p = .61, and OR = 0.33 [95% CI = 0.10–1.10]). Also, ZFAT was not associated with TS (X2 = 1.2, p = .28, and OR = 1.22 [95% CI = 0.84–1.79]). However, for the first time, rs2305767 MYO9B was revealed to have a strong association with TS (X2 = 58.6, p = .0001, and OR = 10.44 [95% C = 5.51–19.80]), supporting a high level of predisposition to CD among TS patients. This report addresses additional data regarding the polymorphic variants associated with autoimmune disease, one of the most common complications in TS.
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A single report demonstrated an increased incidence of the possible high-risk polymorphism MYO9B in individuals with TS.
“A single report demonstrated an increased incidence of the possible high-risk polymorphism MYO9B in individuals with TS.723”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [723]
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
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- Authors
- Villanueva‐Ortega, E., Ahedo, B., Fonseca‐Sánchez, M. A., Pérez‐Durán, J., Garibay‐Nieto, N., Macías‐Galavíz, M. T., Trujillo‐Cabrera, Y., García‐Latorre, E., & Queipo, G.
- Affiliations
- Human Genetic Department Hospital General de México Eduardo Liceaga Mexico City Mexico
- Laboratory of Molecular Diagnosis NanoLab Mexico City Mexico
- Ciencias Biológicas Instituto Politécnico Nacional Mexico City Mexico
- Hospital General de México (MX)
- Corresponding author
- Queipo, G.
- ORCID
- Queipo, G.
- Venue
- International Journal of Immunogenetics
- Publisher
- Wiley
- Published
- 2017-06-18
- Volume
- 44
- Issue
- 4
- Pages
- 153-157
- ISSN
- 1744-3121 (ISSN-L)
- 1744-313X
- OpenAlex
- W2625263708
- Cited by
- 12
- References
- 34
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 1 · 2023: 1 · 2021: 1 · 2020: 2 · 2019: 4 · 2017: 1
- FWCI
- 1.27
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- International Journal of Immunogenetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Consejo Nacional de Ciencia y Tecnología (181798)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Gastroenterology › Celiac Disease Research and Management
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Keywords
- Turner syndrome, PTPN22, ZFAT, MYO9B, single nucleotide polymorphisms, autoimmune disease, thyroid dysfunction, celiac disease, genetic susceptibility, Mexican mestizo patients
- MeSH terms
- Autoimmune Diseases, Female, Humans, Mexico, Myosins, Transcription Factors, Turner Syndrome, Polymorphism, Single Nucleotide, Protein Tyrosine Phosphatase, Non-Receptor Type 2
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