Association of HLA-DQ trans-heterodimers with prevalence of type 1 diabetes mellitus in Buryat ethnic group

Aims. Search for the most pronounced HLA II markers of type 1 diabetes mellitus (T1DM) in Buryat ethnic group and analysis ofHLA-DQ trans-heterodimers. Materials and methods. Case control design was applied for assessment of 74 patients with T1DM and 61 healthy individuals. Alleleidentification was performed with multi-primer allele-specific PCR technique. Association of genetic markers with pathology wasevaluated according to odds ratio (OR) index. All calculations were performed with StatSoft and STATISTICA 6 software applications. Results. We show that regarding race-specific highly diabetogenic HLA class II haplotypes Buryat ethnic group holds intermediateposition between Mongoloids and Caucasians and none of those haplotypes are associated with T1DM. We revealed a statisticallysignificant association of T1DM with DQA1*0301+DQB1*0201+ phenotype represented by trans-coding alleles in 77% of cases. Onpopulation level DQA1*0301+DQB1*0302+ or *0201+ phenotype is found to be the most sensitive marker. It was registered in 43%of patients with T1DM against 11.5% of controls (OR 5.9; рс=0.0094). DQA1*0301+/DQВ1*0201 and DQВ1*0302 phenotype is themost specific marker, registered in 16% of patients, but not found in controls (OR 11.8; рс=0.047).Conclusions. HLA-mediated risk for development of T1DM in Buryat ethnic group is determined by HLA-DQ trans-heterodimers.

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Early Diabetic Nephropathy and Retinopathy in Patients with Type 1 Diabetes Mellitus Attending Sudan Childhood Diabetes Centre

Journal of Diabetes Research ◽

10.1155/2020/7181383 ◽

2020 ◽

Vol 2020 ◽

pp. 1-8

Author(s):

Hana Ahmed ◽

Tayseer Elshaikh ◽

Mohamed Abdullah

Keyword(s):

Diabetes Mellitus ◽

Blood Pressure ◽

Type 1 Diabetes ◽

Diabetic Retinopathy ◽

Risk Factor ◽

Diabetic Nephropathy ◽

Type 1 Diabetes Mellitus ◽

Ethnic Group ◽

Childhood Diabetes

Objective. Data on microvascular complications in children and adolescents with type 1 diabetes mellitus (T1DM) in Sudan are scarce. This study was aimed at determining the prevalence of diabetic nephropathy (DN) and retinopathy (DR) and their relationship to certain risk factors in children with T1DM attending the Sudan Childhood Diabetes Centre. Design and Methods. A clinic-based cross-sectional study of 100 patients with T1DM aged 10-18 years. Patients with disease duration exceeding 5 years if the onset of diabetes was prepubertal and 2 years if it was postpubertal were included. Relevant sociodemographic, clinical, and biochemical information was obtained. Blood pressure was measured. The patients were screened for DN and DR using urinary microalbumin estimation and fundus photography, respectively. Results. The frequency of microalbuminuria and diabetic retinopathy was 36% and 33%, respectively. Eleven percent had both retinopathy and microalbuminuria. Seven percent of the patients were found to be hypertensive. Patients with diabetic retinopathy had significantly higher HbA1c levels ( p = 0.009 ) and longer diabetes duration ( p = 0.02 ) than patients without retinopathy. Logistic regression showed that high HbA1c (odds ratio (OR) 0.83, confidence interval (CI) 0.68-1.00, p = 0.04 ), but not age, duration, ethnic group, BMI, blood pressure, and presence of nephropathy, was an independent risk factor for retinopathy. Likewise, high blood pressure (OR 6.89, CI 1.17-40.52, p = 0.03 ), but not age, duration, ethnic group, BMI, HbA1c, and presence of retinopathy, was a predictor for nephropathy. Conclusion. High prevalence of incipient DN and early stages of DR were observed in this study. Longer diabetes duration and higher HbA1c were associated with the presence of diabetic retinopathy. High blood pressure was a risk factor for DN. So regular screening for these complications and optimization of glycemic control are needed.

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HLA‐DQ genotype and biochemical characterization of anti‐transglutaminase 2 antibodies in patients with type 1 diabetes mellitus in Taiwan

The FASEB Journal ◽

10.1096/fj.202000269r ◽

2020 ◽

Vol 34 (6) ◽

pp. 8459-8474

Author(s):

Yann‐Jinn Lee ◽

Wei‐Hsin Ting ◽

Yi‐Wen Yang ◽

Cheng‐Jui Lin ◽

Yu‐Ting Hsieh ◽

...

Keyword(s):

Diabetes Mellitus ◽

Type 1 Diabetes ◽

Type 1 Diabetes Mellitus ◽

Biochemical Characterization ◽

Transglutaminase 2 ◽

Hla Dq

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Autoimmune Associated Diseases in Pediatric Patients with Type 1 Diabetes Mellitus According to HLA-DQ Genetic Polymorphism

Type 1 Diabetes Complications ◽

10.5772/22646 ◽

2011 ◽

Author(s):

Miguel Angel Garcia Cabezas ◽

Barbara Fernandez

Keyword(s):

Diabetes Mellitus ◽

Type 1 Diabetes ◽

Genetic Polymorphism ◽

Type 1 Diabetes Mellitus ◽

Pediatric Patients ◽

Associated Diseases ◽

Hla Dq

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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

PLoS ONE ◽

10.1371/journal.pone.0198652 ◽

2018 ◽

Vol 13 (6) ◽

pp. e0198652 ◽

Cited By ~ 4

Author(s):

Mohammad Z. Haider ◽

Majedah A. Rasoul ◽

Maria Al-Mahdi ◽

Hessa Al-Kandari ◽

Gursev S. Dhaunsi

Keyword(s):

Diabetes Mellitus ◽

Type 1 Diabetes ◽

Type 1 Diabetes Mellitus ◽

Protein Tyrosine Phosphatase ◽

Tyrosine Phosphatase ◽

Receptor Type ◽

Protein Tyrosine ◽

Hla Dq ◽

Functional Variant

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Clinical features, Epidemiology, Autoantibody status, HLA Haplotypes and Genetic Mechanisms of Type 1 diabetes mellitus among Children in Qatar

10.21203/rs.3.rs-244766/v1 ◽

2021 ◽

Author(s):

Basma Haris ◽

Ikhlak Ahmed ◽

Najeeb Syed ◽

Hakeem Almabrazi ◽

Saras Saraswathi ◽

...

Keyword(s):

Diabetes Mellitus ◽

Type 1 Diabetes ◽

Type 1 Diabetes Mellitus ◽

Clinical Features ◽

P Value ◽

Hla Dq ◽

Genetic Mechanisms ◽

Autoantibody Status ◽

Hla Haplotypes

Abstract Aims - To describe the clinical features, epidemiology, autoantibody status, HLA haplotypes and genetic mechanisms of type 1 diabetes mellitus (T1DM). Methods - Patients (0–18 years) with diabetes were recruited. Clinical data was collected, autoantibodies and c-peptide were measured. Whole Genome Sequencing was performed. Genomic data analysis was compared with the known genes linked with T1DM and HLA alleles were studied. Results - 1096 patients had one or more antibody positivity. The incidence of T1DM in 2020 was 38.05 per 100,000 children and prevalence was 249.73. GAD65 was the most common autoantibody and IA2 was most specific. Variants in GSTCD, SKAP2, SLC9B1, BANK1 were most prevalent. An association of HLA haplotypes DQA1*03:01:01G (OR = 2.46, pvalue = 0.011) and DQB1*03:02:01G (OR = 2.43, p value = 0.022) was identified. Conclusions - In this first prospective study, IA2 autoantibody was the most specific, some patients only have ZnT8 or IA2 autoantibodies thus underlining the necessity of profiling all 4 antibodies. The genes associated with T1DM in the Arab population were different from those that are common in the Caucasian population. HLA-DQ was enriched in the Qatari patients suggesting that it can be considered a major risk factor at an early age.

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HLA-DQ Polymorphisms Modify the Risk of Thyroid Autoimmunity in Children with Type 1 Diabetes Mellitus

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem.2003.16.6.851 ◽

2003 ◽

Vol 16 (6) ◽

Cited By ~ 12

Author(s):

Ζ. Šumnik ◽

P. Dřevinek ◽

M. Šnajdcrová ◽

S. Koloušková ◽

P. Sedláková ◽

...

Keyword(s):

Diabetes Mellitus ◽

Type 1 Diabetes ◽

Type 1 Diabetes Mellitus ◽

Thyroid Autoimmunity ◽

Hla Dq

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Incidence and association of TCF7, TCF7L2 single nucleotide polymorphisms in type 1 diabetes mellitus patients of South Tamil Nadu, India

International Journal of Community Medicine and Public Health ◽

10.18203/2394-6040.ijcmph20194533 ◽

2019 ◽

Vol 6 (10) ◽

pp. 4588

Author(s):

Kumaravel Velayutham ◽

Balaji Ramanathan ◽

Sivan Arul Selvan ◽

Rohini Gomathinayagam

Keyword(s):

Diabetes Mellitus ◽

Type 1 Diabetes ◽

Transcription Factor ◽

Type 1 Diabetes Mellitus ◽

Tamil Nadu ◽

Small Scale ◽

Nucleotide Polymorphisms ◽

Specific Pcr ◽

South Indian

Background: The TCF family genes TCF7 (T cell specific transcription factor-7) and TCF7L2 (transcription factor 7 like 2) are increasingly recognized to play a pivotal role in the incidence, pathophysiology of type 1 diabetes mellitus (T1DM). However, the prevalence and the influence of these allelic variants in the Indian/south Indian T1DM population is completely obscure.Methods: Genomic DNA was isolated from the peripheral blood samples of healthy controls, T1DM patients, and PCR (polymerase chain reaction), restriction fragment length polymorphism (RFLP), allele specific PCR (ASP), PCR product sequencing strategies were utilized to determine the prevalence of the TCF7 (exon 3, flanking intron 2, 3 regions) and TCF7L2 (intron 4) polymorphisms. Clinical investigations included assessment of the blood glucose/ estimated average glucose levels (EAG) and C-peptide levels.Results: The results indicate that 34.9% and 3.17% of the T1DM patients harbored the TCF7L2 rs7903146 and the TCF7 rs386692598 polymorphisms, respectively. Assessment of biochemical parameters indicated that the rs7903146 positive T1DM patients exhibited significantly lower EAG levels (p<0.05), suggesting that these patients may exhibit phenotypic heterogeneity, a milder disease course. The study further demonstrates that PCR based strategies enable reliable molecular diagnosis of T1DM in small scale diagnostic units.Conclusions: T1DM patients from south Tamil Nadu present TCF7, TCF7L2 genetic variations and screening for these polymorphisms will empower physicians to provide appropriate therapy and genetic counselling.

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