Autoimmunity-Associated PTPN22 Polymorphisms in Latent Autoimmune Diabetes of the Adult Differ from Those of Type 1 Diabetes Patients

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11120%2F18%3A43916689" target="_blank" >RIV/00216208:11120/18:43916689 - isvavai.cz</a>

Result on the web

<a href="https://doi.org/10.1159/000489225" target="_blank" >https://doi.org/10.1159/000489225</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1159/000489225" target="_blank" >10.1159/000489225</a>

Result language

angličtina

Original language name

Autoimmunity-Associated PTPN22 Polymorphisms in Latent Autoimmune Diabetes of the Adult Differ from Those of Type 1 Diabetes Patients

Original language description

Background: A portion of adults with humoral immune changes have clinical diabetes that is initially not insulin-requiring (LADA). One of the genes strongly associated with autoimmune diabetes is PTPN22. We hypothesized that the manifestation and clinical features of LADA are linked to functional variants of PTPN22. Methods: We genotyped allelic frequencies of one protective and three risk-associated PTPN22 variants in 156 Czech LADA patients, 194 type 2 diabetes mellitus patients with LADA-like progression to insulinotherapy and 324 type 1 diabetes mellitus patients, and subsequently examined the associations of PTPN22 variants with the expression of autoantibodies and other clinical features of LADA. Results: We challenged the paradigm that stated that PTPN22 1858T allele serves as a risk allele for LADA, although we confirmed its risk status in the geographically matched T1DM cohort. In contrast, the frequencies of other PTPN22 alleles (-1123C, 788A and 1970-852C) differed significantly from the healthy controls. We confirmed gender-related differences in the frequency of some PTPN22 polymorphisms (but not c.1858C&gt;T) in LADA. The particular PTPN22 alleles and genotypes were associated with specific clinical features of the examined patients (autoantibodies, HbA1c and age at diagnosis of diabetes). Conclusions: The variability in PTPN22 haplotypes suggests that the genetic signature of LADA is independent and should not be considered a hybrid form of T1DM and T2DM. Further studies should elucidate the associations with clinical characteristics of the LADA patients and focus on the newly emerging types of diabetes for which the disease onset occurs in early to mid-adulthood.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30102 - Immunology

Project

<a href="/en/project/GJ15-03834Y" target="_blank" >GJ15-03834Y: Mechanisms of the monogenic diabetes onset, progression and therapy</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2018

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

International Archives of Allergy and Immunology

ISSN

1018-2438

e-ISSN

—

Volume of the periodical

177

Issue of the periodical within the volume

1

Country of publishing house

CH - SWITZERLAND

Number of pages

12

Pages from-to

57-68

UT code for WoS article

000442609700007

EID of the result in the Scopus database

2-s2.0-85048590272