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DOI 10.1038/s41598-021-98460-4

Медицинская библиотека · Scientific reports · 2021

Clinical features, epidemiology, autoantibody status, HLA haplotypes and genetic mechanisms of type 1 diabetes mellitus among children in Qatar.

Haris Basma, Ahmed Ikhlak, Syed Najeeb, Almabrazi Hakeem, Saraswathi Saras, Al-Khawaga Sara, Saeed Amira, Mundekkadan Shihab, Mohammed Idris, Sharari Sanaa, Hawari Iman, Hamed Noor, Afyouni Houda, Abdel-Karim Tasneem, Mohammed Shayma, Khalifa Amel, Al-Maadheed Maryam, Zyoud Mahmoud, Shamekh Ahmed, Elawwa Ahmed, Karim Mohammed Y, Al-Khalaf Fawziya, Tatari-Calderone Zohreh, Petrovski Goran, Hussain Khalid

СтатьяНаблюдательное исследованиеПоддержка исследования: вне правительства СШАПеревод пока не подготовлен

Аннотация

To describe the clinical features, epidemiology, autoantibody status, HLA haplotypes and genetic mechanisms of type 1 diabetes mellitus (T1DM). 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. 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. GADA was the most common autoantibody followed by IAA. Variants in GSTCD, SKAP2, SLC9B1, BANK1 were most prevalent. An association of HLA haplotypes DQA1*03:01:01G (OR = 2.46, p value = 0.011) and DQB1*03:02:01G (OR = 2.43, p value = 0.022) was identified. The incidence of T1DM in Qatar is the fourth highest in the world, IA2 autoantibody was the most specific with some patients only having ZnT8 or IA2 autoantibodies thus underlining the necessity of profiling all 4 autoantibodies. 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.

Для цитирования: Haris Basma, Ahmed Ikhlak, Syed Najeeb, Almabrazi Hakeem, Saraswathi Saras, Al-Khawaga Sara, Saeed Amira, Mundekkadan Shihab, Mohammed Idris, Sharari Sanaa, Hawari Iman, Hamed Noor, Afyouni Houda, Abdel-Karim Tasneem, Mohammed Shayma, Khalifa Amel, Al-Maadheed Maryam, Zyoud Mahmoud, Shamekh Ahmed, Elawwa Ahmed, Karim Mohammed Y, Al-Khalaf Fawziya, Tatari-Calderone Zohreh, Petrovski Goran, Hussain Khalid. Clinical features, epidemiology, autoantibody status, HLA haplotypes and genetic mechanisms of type 1 diabetes mellitus among children in Qatar.. Scientific reports. 2021. DOI: 10.1038/s41598-021-98460-4.

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