Association of protein tyrosine phosphatase non-receptor type 22 gene functional variant C1858T, HLA-DQ/DR genotypes and autoantibodies with susceptibility to type-1 diabetes mellitus in Kuwaiti Arabs

Haider, M.Z.; Rasoul, Majedah A.; Al-Mahdi, Maria; Alkandari, Hessa; Dhaunsi, Gursev S.

doi:10.1371/journal.pone.0198652

Cited by 12 publications

(16 citation statements)

References 72 publications

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“…The hallmark of HLA susceptibility is, however, considered from the haplotype point of view [31, 33, 34, 43, 44, 51–55]. Reported Arab T1D HLA studies were tabulated in Table 3 [49, 50, 55–60], which highlights the dearth need for systematic HLA studies in these populations. A recent meta-analysis published in 2015 analyzed 23,333 articles, of which only 30 were based on an Arab population.…”

Section: Introductionmentioning

confidence: 99%

“…There is a dearth amount of information about autoantibodies in type 1 diabetes in Arab populations (Table 4). Majority of the present studies are case control and investigated the presence of only GADA and IA2 [49, 50, 69–73]. There are interesting studies correlating gene polymorphisms and the ICA, IA2, and GADA to the susceptibility to type 1 diabetes in the Kuwaiti population [49, 50].…”

Section: Introductionmentioning

confidence: 99%

“…Majority of the present studies are case control and investigated the presence of only GADA and IA2 [49, 50, 69–73]. There are interesting studies correlating gene polymorphisms and the ICA, IA2, and GADA to the susceptibility to type 1 diabetes in the Kuwaiti population [49, 50]. These findings may reflect variation in assay standardization, number of autoantibodies measured, variation in population studied, or existence of other forms of non-immune-mediated diabetes, idiopathic (type 1B).…”

Section: Introductionmentioning

confidence: 99%

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Human Leukocyte Antigen (HLA) and Islet Autoantibodies Are Tools to Characterize Type 1 Diabetes in Arab Countries: Emphasis on Kuwait

Jahromi

Al-Ozairi

2019

Disease Markers

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The incidence rate of type 1 diabetes in Kuwait had been increasing exponentially and has doubled in children ≤ 14 years old within almost two decades. Therefore, there is a dire need for a careful systematic familial cohort study. Several immunogenetic factors affect the pathogenesis of the disease. The human leukocyte antigen (HLA) accounts for the major genetic susceptibility to the disease. The triggering agents initiate disease onset by type 1 destruction of pancreatic β-cells. Both HLA and anti-islet antibodies can be used to characterize, predict susceptibility to the disease, innovate, or delay the β-cell destruction. Evidence from prospective longitudinal studies suggested that the underlying disease process represents a continuum that begins before the symptoms are clinically evident. Autoimmunity of the functional pancreatic β-cells results in symptomatic type 1 diabetes and lifelong insulin dependence. The autoantibodies against glutamic acid decarboxylase (GADA), insulinoma antigen-2 (IA-2A), insulin (IAA), and zinc transporter-8 (ZnT-8A) comprise the most reliable biomarkers for type 1 diabetes in both children and adults. Although Kuwait is the second among the top 10 countries with a high incidence rate of type 1 diabetes, there have been no proper diagnostic and prediction tools as per the World Health Organization. The Kuwaiti Type 1 Diabetes Study (KADS) was initiated to understand the disease pathogenesis as well as the HLA and anti-islet autoantibody profile of type 1 diabetes in Kuwait. Understanding the disease sequela in a homogenous gene pool and highly consanguineous population of Kuwaitis could help solve the challenges and pathogenesis, as well as hasten the prevention, of type 1 diabetes.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Human Leukocyte Antigen (HLA) and Islet Autoantibodies Are Tools to Characterize Type 1 Diabetes in Arab Countries: Emphasis on Kuwait

Jahromi

Al-Ozairi

2019

Disease Markers

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“…The genetic background is known to influence susceptibility to diabetes development, insulin resistance, and the efficacy of glucose-lowering drugs [17]. Accumulated evidence suggests that ABCA1 contributes to secreting insulin in pancreatic β-cells and amyloid beta for- mation [18][19][20].…”

Section: Discussionmentioning

confidence: 99%

ABCA1 Variants rs1800977 (C69T) and rs9282541 (R230C) Are Associated with Susceptibility to Type 2 Diabetes

Wang

et al. 2020

Public Health Genomics

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Objective: Accumulated evidence suggests that ATP-binding cassette A1 transporter (ABCA1) contributes to secreting insulin in pancreatic β-cells and amyloid beta formation. This study aimed to investigate the association between three single nucleotide polymorphisms (SNPs) of ABCA1 and susceptibility to type 2 diabetes mellitus (T2DM) in a Han Chinese population. Methods: A total of 996 T2DM patients and 1,002 controls were included in the study. Three SNPs in the ABCA1 gene, i.e., rs2230806 (R219K), rs1800977 (C69T), and rs9282541 (R230C), were genotyped by SNaPshot. A genotype model, an allele model, a dominant model, and a recessive model were used to assess susceptibility to T2DM. Results: There were significant associations between rs1800977 and T2DM in different genetic models (TT vs. CC, OR = 0.591 [0.446-0.793], p < 0.001; T vs. C, OR = 0.835 [0.735-0.949], p = 0.006; recessive model, OR = 0.583 [0.449-0.756], p < 0.001). There were also significant associations between rs9282541 and T2DM in different genetic models (CT vs. CC, OR = 1.690 [0.807-1.005], p = 0.048; T vs. C, OR = 1.756 [0.694-1.060], p = 0.029; dominant model, OR = 1.735 [0.715-1.034], p = 0.037). Conclusion: Our case-control study showed that the two SNPs rs1800977 and rs9282541 in the ABCA1 gene are significantly associated with susceptibility to T2DM in our Han Chinese population. Study of further mechanisms should be performed before application to clinical therapy.

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“…A previously described method was used to isolate total genomic DNA [17]. The genotypes of a functional variant +1858C→T (rs2476601) in the PTPN22 gene were identified by polymerase chain reaction-restriction enzyme fragment length polymorphism (PCR-RFLP) method [18,19]. In order to amplify a 218 bp DNA fragment, the primers: Forward primer: 5'-ACTGATAATGTTGCTTCAACGG-3' and reverse primer:5'-TCACCAGCTTCCTCAACCAC-3' were used.…”

Section: Methodsmentioning

confidence: 99%

Role of Protein Tyrosine Phosphatase (PTPN22) Gene [C1858T] Functional Variant in Genetic Susceptibility of Psoriatic Arthritis in Kuwaiti Arabs

Al-Awadhi¹,

Haider²,

Sukumaran³

et al. 2020

TORJ

Self Cite

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Background: Psoriatic arthritis (PsA) is a chronic, systemic inflammatory arthritic disease characterized by joint inflammation that is associated with cutaneous psoriasis, and can lead to pain, swelling, or stiffness in one or more joints. It results from a complex interplay between genetic, immunologic and environmental factors. A functional variant [C1858T] in the protein tyrosine phosphatase (PTPN22) gene, which encoded Arg620Trp in the lymphoid protein tyrosine phosphatase (LYP) has been shown to be a negative regulator of T-cell activation. Objective: The objective of this study was to investigate an association between PTPN22 gene [C1858T] functional variant and PsA in Kuwaiti patients. Methods: We have investigated the association of PTPN22 gene functional variant in 102 Kuwaiti patients with psoriatic arthritis and compared it to that in 214 healthy controls. The genotypes for the PTPN22 gene [C1858T] variant were determined by using a PCR-RFLP method and confirmed by DNA sequence analysis. Results: The frequency of homozygous variant genotype (TT) was found to be significantly higher in PsA patients compared to that in the controls (p <0.0001). Collectively, the variant genotype was detected in homozygous and heterozygous combinations in 30% patients (p <0.0001) compared to 16% in the controls. The frequency of variant genotype was found to be highest in the early-onset PsA patients (age >25-34y). No correlation was detected between the variant genotype (TT) and gender in the Kuwaiti PsA patients. Conclusion: Our data show a significant association of PTPN22 gene functional variant [C1958T] with PsA in Kuwaiti patients and highlight its role in determining the genetic susceptibility along with other factors.

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Association of protein tyrosine phosphatase non-receptor type 22 gene functional variant C1858T, HLA-DQ/DR genotypes and autoantibodies with susceptibility to type-1 diabetes mellitus in Kuwaiti Arabs

Cited by 12 publications

References 72 publications

Human Leukocyte Antigen (HLA) and Islet Autoantibodies Are Tools to Characterize Type 1 Diabetes in Arab Countries: Emphasis on Kuwait

Human Leukocyte Antigen (HLA) and Islet Autoantibodies Are Tools to Characterize Type 1 Diabetes in Arab Countries: Emphasis on Kuwait

ABCA1 Variants rs1800977 (C69T) and rs9282541 (R230C) Are Associated with Susceptibility to Type 2 Diabetes

Role of Protein Tyrosine Phosphatase (PTPN22) Gene [C1858T] Functional Variant in Genetic Susceptibility of Psoriatic Arthritis in Kuwaiti Arabs

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