PMID- 35456320
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220716
IS  - 2077-0383 (Print)
IS  - 2077-0383 (Electronic)
IS  - 2077-0383 (Linking)
VI  - 11
IP  - 8
DP  - 2022 Apr 15
TI  - Combination of HLA-DQ2/-DQ8 Haplotypes and a Single MSH5 Gene Variant in a Polish 
      Population of Patients with Type 1 Diabetes as a First Line Screening for Celiac 
      Disease?
LID - 10.3390/jcm11082223 [doi]
LID - 2223
AB  - Patients with type 1 diabetes (T1D) are at increased risk for developing celiac 
      disease (CD). The aim of the study was to assess the usefulness of 
      celiac-specific human leukocyte antigen (HLA) haplotype and the rs3130484 variant 
      of MSH5 gene, a previously described non-HLA variant associated with CD in the 
      Polish population as a first-line screening for CD in T1D pediatric patients. 
      Serological CD screening performed in the T1D group (n = 248) and healthy 
      controls (n = 551) allowed for CD recognition in 20 patients (8.1%) with T1D (T1D 
      + CD group). HLA-DQ2, HLA-DQ8 and the rs3130484 variant were genotyped with 
      TaqMan SNP Genotyping Assays. The T1D + CD group presented a higher, but not 
      statistically significant, frequency of HLA-DQ2 in comparison with T1D subjects. 
      Combining the rs3130484 with HLA-DQ2/HLA-DQ8 typing significantly increased the 
      sensitivity of HLA testing from 32.7% to 68.7%, and the accuracy of estimating CD 
      prediction from 51.7% to 86.4% but decreased the specificity from 100% to 78.2%. 
      The receiver operating characteristic curve analysis confirmed the best 
      discrimination for the combination of both genetic tests with an area under curve 
      reaching 0.735 (95% CI: 0.700-0.7690) in comparison with 0.664 (95% CI: 
      0.632-0.696) for HLA typing alone. Results show the low utility of 
      HLA-DQ2/HLA-DQ8 typing for CD screening in T1D pediatric patients. Combination of 
      the rs3130484 variant of the MSH5 gene and HLA testing increases both the 
      sensitivity and the predictive value of the test accuracy, but still, the 
      obtained values are not satisfactory for recommending such testing as the 
      first-line screening for CD in T1D patients.
FAU - Wysocka-Mincewicz, Marta
AU  - Wysocka-Mincewicz M
AUID- ORCID: 0000-0001-8213-9759
AD  - Department of Endocrinology and Diabetology of the Children's Memorial Health 
      Institute, Aleja Dzieci Polskich 20, 04-730 Warsaw, Poland.
FAU - Groszek, Artur
AU  - Groszek A
AD  - Department of Endocrinology and Diabetology of the Children's Memorial Health 
      Institute, Aleja Dzieci Polskich 20, 04-730 Warsaw, Poland.
FAU - Ambrozkiewicz, Filip
AU  - Ambrozkiewicz F
AUID- ORCID: 0000-0001-6850-780X
AD  - Department of Genetics, Maria Sklodowska-Curie National Research Institute of 
      Oncology, Roentgena 5, 02-781 Warsaw, Poland.
AD  - Laboratory of Translational Cancer Genomics, Biomedical Center, Faculty of 
      Medicine in Pilsen, Charles University, Alej Svobody 1665/76, 323 00 Pilsen, 
      Czech Republic.
FAU - Paziewska, Agnieszka
AU  - Paziewska A
AD  - Department of Gastroenterology, Hepatology and Clinical Oncology, Centre of 
      Postgraduate Medical Education, 01-813 Warsaw, Poland.
AD  - Department of Neuroendocrinology, Centre of Postgraduate Medical Education, 
      01-813 Warsaw, Poland.
AD  - Faculty of Medical and Health Sciences, Institute of Health Sciences, Siedlce 
      University of Natural Sciences and Humanities, 08-110 Siedlce, Poland.
FAU - Dabrowska, Michalina
AU  - Dabrowska M
AD  - Department of Genetics, Maria Sklodowska-Curie National Research Institute of 
      Oncology, Roentgena 5, 02-781 Warsaw, Poland.
FAU - Rybak, Anna
AU  - Rybak A
AUID- ORCID: 0000-0002-8233-5490
AD  - Department of Gastroenterology, Great Ormond Street Hospital NHS Trust, Great 
      Ormond Street, London WC1N 3JH, UK.
FAU - Konopka, Ewa
AU  - Konopka E
AD  - Department of Pathomorphology of the Children's Memorial Health Institute, Aleja 
      Dzieci Polskich 20, 04-730 Warsaw, Poland.
FAU - Ochocinska, Agnieszka
AU  - Ochocinska A
AUID- ORCID: 0000-0002-6997-6197
AD  - Department of Biochemistry, Radioimmunology and Experimental Medicine of the 
      Children's Memorial Health Institute, Aleja Dzieci Polskich 20, 04-730 Warsaw, 
      Poland.
FAU - Zeber-Lubecka, Natalia
AU  - Zeber-Lubecka N
AD  - Department of Genetics, Maria Sklodowska-Curie National Research Institute of 
      Oncology, Roentgena 5, 02-781 Warsaw, Poland.
AD  - Department of Gastroenterology, Hepatology and Clinical Oncology, Centre of 
      Postgraduate Medical Education, 01-813 Warsaw, Poland.
FAU - Karczmarski, Jakub
AU  - Karczmarski J
AD  - Department of Genetics, Maria Sklodowska-Curie National Research Institute of 
      Oncology, Roentgena 5, 02-781 Warsaw, Poland.
AD  - Department of Neuroendocrinology, Centre of Postgraduate Medical Education, 
      01-813 Warsaw, Poland.
FAU - Bierla, Joanna B
AU  - Bierla JB
AUID- ORCID: 0000-0002-5772-5091
AD  - Department of Pathomorphology of the Children's Memorial Health Institute, Aleja 
      Dzieci Polskich 20, 04-730 Warsaw, Poland.
FAU - Trojanowska, Ilona
AU  - Trojanowska I
AD  - Department of Pathomorphology of the Children's Memorial Health Institute, Aleja 
      Dzieci Polskich 20, 04-730 Warsaw, Poland.
FAU - Rogowska, Agnieszka
AU  - Rogowska A
AD  - Department of Gastroenterology, Hepatology and Clinical Oncology, Centre of 
      Postgraduate Medical Education, 01-813 Warsaw, Poland.
AD  - Department of Oncological Gastroenterology, Maria Sklodowska-Curie National 
      Research Institute of Oncology, 02-781 Warsaw, Poland.
FAU - Ostrowski, Jerzy
AU  - Ostrowski J
AD  - Department of Genetics, Maria Sklodowska-Curie National Research Institute of 
      Oncology, Roentgena 5, 02-781 Warsaw, Poland.
AD  - Department of Gastroenterology, Hepatology and Clinical Oncology, Centre of 
      Postgraduate Medical Education, 01-813 Warsaw, Poland.
FAU - Cukrowska, Bozena
AU  - Cukrowska B
AUID- ORCID: 0000-0001-6887-0094
AD  - Department of Pathomorphology of the Children's Memorial Health Institute, Aleja 
      Dzieci Polskich 20, 04-730 Warsaw, Poland.
LA  - eng
GR  - S156/2017/The Children's Memorial Health Institute/
GR  - S186/2020/The Children's Memorial Health Institute/
GR  - M32/18/The Children's Memorial Health Institute/
PT  - Journal Article
DEP - 20220415
PL  - Switzerland
TA  - J Clin Med
JT  - Journal of clinical medicine
JID - 101606588
PMC - PMC9025645
OTO - NOTNLM
OT  - HLA-DQ2 haplotype
OT  - HLA-DQ8 haplotype
OT  - MSH5 gene
OT  - celiac disease
OT  - genetic screening
OT  - type 1 diabetes
COIS- The authors declare no conflict of interest.
EDAT- 2022/04/24 06:00
MHDA- 2022/04/24 06:01
PMCR- 2022/04/15
CRDT- 2022/04/23 01:09
PHST- 2022/02/23 00:00 [received]
PHST- 2022/04/09 00:00 [revised]
PHST- 2022/04/11 00:00 [accepted]
PHST- 2022/04/23 01:09 [entrez]
PHST- 2022/04/24 06:00 [pubmed]
PHST- 2022/04/24 06:01 [medline]
PHST- 2022/04/15 00:00 [pmc-release]
AID - jcm11082223 [pii]
AID - jcm-11-02223 [pii]
AID - 10.3390/jcm11082223 [doi]
PST - epublish
SO  - J Clin Med. 2022 Apr 15;11(8):2223. doi: 10.3390/jcm11082223.