PMID- 36592387
OWN - NLM
STAT- MEDLINE
DCOM- 20230104
LR  - 20230111
IS  - 1110-4902 (Print)
VI  - 30
IP  - 1
DP  - 2023 Jan
TI  - Genetic polymorphisms of Endoplasmic reticulum amino peptidase 1 (ERAP1) and 
      Interferon lambda 4 (IFN-lambda4) in Egyptian patients with type 1 diabetes mellitus.
PG  - 116-124
AB  - Different genetic and environmental factors are implicated in type I diabetes 
      (T1DM) pathogenesis. About 50% of the genetic susceptibility for T1DM is related 
      to human leukocyte antigen (HLA) genes. Other non-HLA genes have variable roles 
      in the destruction of pancreatic beta cells. A highly variable gene called 
      endoplasmic reticulum associated with antigen processing gene 1(ERAP1) shares in 
      activating autoreactive CD8+ T lymphocytes, peptide trimming, and subsequent 
      pancreatic beta cells destruction. Local production of inflammatory cytokines within 
      the cells of islets of Langerhans is linked to T1DM progression. Different viral 
      and autoimmune disorders have been linked to genetic variations in type III 
      interferon (IFNlambdas). This study aimed to determine genetic polymorphisms of 
      interferon lambda 4 (IFNlambda4rs 73555604) and endoplasmic reticulum aminopeptidases 
      1 (ERAP1 rs26618) in Egyptian patients with T1DM. The study recruited 120 
      patients with T1DM from Kafrelsheikh University Hospital and 100 normal controls 
      who were age and sex matched with the patients' group. Single-nucleotide 
      polymorphism (SNP) genotyping of ERAP1(rs26618) and IFN-lambda-4(rs73555604) was 
      performed using real-time polymerase chain reaction. Patients with CC genotype 
      were less likely to develop T1DM than those with TC and TT genotypes for both 
      genes. In addition, T allele frequency in comparison to C allele frequency was 
      significantly increased in T1DM patients when compared to control group (p < 
      0.001). There were positive correlations between studied SNPs for both genes, 
      fasting and postprandial blood glucose levels which suggest the association of 
      these genes with T1DM occurrence. We concluded that the studied SNPs of ERAP1gene 
      (rs26618) and IFNlambda-4 gene(rs73555604) may be associated with T1DM development. In 
      addition, T alleles for both genes could be considered risk alleles while C 
      alleles would be regarded as a protective allele. Patients with TC and TT 
      genotypes would be at a higher risk for T1DM than those carrying CC genotype.
CI  - Copyright(c) by the Egyptian Association of Immunologists.
FAU - Abo El Nazar, Salma
AU  - Abo El Nazar S
AD  - Department of Immunology and Allergy, Medical Research Institute, Alexandria 
      University, Alexandria, Egypt.
FAU - Ghazy, Amany A
AU  - Ghazy AA
AD  - Department of Microbiology & Immunology, Faculty of Medicine, Kafresheikh 
      University, Kafresheikh, Egypt.
FAU - Amer, Ibrahim
AU  - Amer I
AD  - Department of Hepatology, Gastroenterology & Infectious Diseases, Faculty of 
      Medicine, Kafresheikh University, Kafresheikh, Egypt.
FAU - Tawfik, Salwa
AU  - Tawfik S
AD  - Department of Internal Medicine, National Research Center, Cairo, Egypt.
FAU - Nassar, Marwa
AU  - Nassar M
AD  - Research & Development laboratory at Nefertary Factory.
FAU - Osman, Eman M
AU  - Osman EM
AD  - Department of Immunology and Allergy, Medical Research Institute, Alexandria 
      University, Alexandria, Egypt.
LA  - eng
PT  - Journal Article
PL  - Egypt
TA  - Egypt J Immunol
JT  - The Egyptian journal of immunology
JID - 9816016
RN  - 0 (Interferon Lambda)
RN  - EC 3.4.- (Peptide Hydrolases)
RN  - EC 3.4.11.- (Aminopeptidases)
RN  - EC 3.4.11.- (ERAP1 protein, human)
RN  - 0 (Minor Histocompatibility Antigens)
SB  - IM
MH  - Humans
MH  - *Diabetes Mellitus, Type 1/genetics
MH  - Interferon Lambda
MH  - Peptide Hydrolases/genetics
MH  - Egypt
MH  - Aminopeptidases/genetics
MH  - Genetic Predisposition to Disease/genetics
MH  - Genotype
MH  - Polymorphism, Single Nucleotide
MH  - Alleles
MH  - Endoplasmic Reticulum
MH  - Minor Histocompatibility Antigens/genetics
EDAT- 2023/01/03 06:00
MHDA- 2023/01/05 06:00
CRDT- 2023/01/02 13:44
PHST- 2023/01/02 13:44 [entrez]
PHST- 2023/01/03 06:00 [pubmed]
PHST- 2023/01/05 06:00 [medline]
PST - ppublish
SO  - Egypt J Immunol. 2023 Jan;30(1):116-124.