Evaluation of high-risk type 1 diabetes HLA-DR and DQ haplotypes using three single nucleotide polymorphisms in a population from Southern Brazil

Duarte, Guilherme Coutinho Kullmann; Assmann, Taís Silveira; Martins, Égina Marina Barbosa; Santos, Maria de Fatima Maciel dos; Canani, Luís Henrique Santos; Crispim, Daisy

doi:10.1186/1758-5996-7-s1-a215

Cited by 2 publications

(3 citation statements)

References 1 publication

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Similarly, a Brazilian study found similar results. Thus, SNP rs3104413 was reported associated with T1D in their study 37 . They found that allele G at SNP rs3104413 was present in 44.4% of T1D subjects vs 11.2% of controls; allele T at rs2854275 was found in 12.9% vs 1.9% in cases/controls; and allele A at rs9273363 was observed in 43.9% vs 9.9% in cases/controls (with P < .0001) 37 .…”

Section: Discussionmentioning

confidence: 90%

“…was reported associated with T1D in their study. 37 They found that in cases/controls; and allele A at rs9273363 was observed in 43.9% vs 9.9% in cases/controls (with P < .0001). 37 We also found that tagSNPs for class-I HLA alleles in Europeans are associated with protection (rs805288) or risk (rs364415, rs4151665, rs2523589, rs29243, rs3130434) for developing T1D in our population.…”

Section: Discussionmentioning

confidence: 94%

See 1 more Smart Citation

A non‐codingRNASEH1gene variant associates with type 1 diabetes and interacts withHLA tagSNPsin families from Colombia

et al. 2020

View full text Add to dashboard Cite

Objectives: RNASEH1 gene has recently been associated with type 1 diabetes (T1D) in Colombia. The purpose of this study was to fine mapping the putative functional variant in RNASEH1 and testing its interaction with HLA tagSNPs. Methods: Two-hundred nuclear families with T1D were included in this study. Probands were tested for GAD65 and IA-2 autoantibodies. Genotyping was performed using 20 coding tagSNPs uncovered through Sanger sequencing (N = 96), in addition to 23 tagSNPs chosen from 1000genomes to cover the extent of the gene region. Also, 45 tagSNPs for classic HLA alleles associated with T1D were also genotyped. The transmission disequilibrium test (TDT) was used to test for association and a multiple testing correction was made using permutation. Interaction between RNASEH1 variants and HLA was evaluated by means of the M-TDT test. Results: We identified 20 variants (15 were novel) in the 96 patients sequenced. None of these variants were in linkage disequilibrium. In total, 43 RNASEH1 variants were genotyped in the 200 families. Association between T1D and rs7607888 was identified (P = .002). Haplotype analysis involving rs7607888 variant revealed even stronger association with T1D (most significative P = .0003). HLA tagSNPs displayed stronger associations (OR = 6.39, 95% CI = 4.33-9.44, P-value = 9.74E-28). Finally, we found several statistically significant interactions of HLA variants with rs7607888 (P-value ranged from 8.77E-04 to 5.33E-12). Conclusion: Our results verify the association of rs7607888 in RNASEH1 gene with T1D. It is also shown in the interaction between RNASEH1 and HLA for conveying risk to T1D in Northwest Colombia. Work is underway aiming to identify the actual classic HLA alleles associated with the tagSNPs tested here.

show abstract

Section: Discussionmentioning

confidence: 90%

Section: Discussionmentioning

confidence: 94%

A non‐codingRNASEH1gene variant associates with type 1 diabetes and interacts withHLA tagSNPsin families from Colombia

et al. 2020

View full text Add to dashboard Cite

show abstract

“…Ottenho (26) demonstrated that IDDM patients had considerably higher frequencies of both DR3 and DR4 (respectively, p-value= 0.02, p-value= 0.01). A high-risk HLA-DR4/DQ8 haplotype is associated with a higher incidence of T1D in that group, According to Duarte et al (27) studies, the high-risk HLA-DR4/DQ8 haplotype is linked to a higher incidence of T1D in her group. It is now possible to accurately predict the genetic risk of non-HLA genes on T1D in Southern Brazil for various high-risk HLA-DR/DQ types.…”

Section: Discussionmentioning

confidence: 95%

Association of HLA-DRB1/DQB1 Alleles and Genetic Susceptibility to Type 1 Diabetes Mellitus

Hussein,

Abdalla,

Salih

et al. 2023

Al-Kindy Col. Med. J

View full text Add to dashboard Cite

Objective: This study was conducted to identify the association of HLA-DRB1/DQB1 genes with the susceptibility or resistance to type 1 diabetes mellitus (T1D) among patients between the ages of five and eighteen. Subjects and Methods: The study included 200 Sudanese participants, ages ranging from 5 to 18. One hundred participants were healthy non-diabetic as the control group and 100 with T1D as the case group. The investigation was carried out in Khartoum state. The selection of patients with T1D was from diabetic centers and hospitals. The allele-specific-refractory mutation system-polymerase chain reaction (ARMS-PCR) technique was applied to identify the HLA gene polymorphism. Results: There was a significant difference in genotype frequency across the groups in the current investigation (Kruskal-Wallis, p-value= 0.021). Whereas CG was not substantially different across groups (Chi-square, p-value=0.116), the CC genotype was considerably greater (46.0%) in patients (Chi-square Adjusted p-value0.001). Conclusion: This study found that patients' genotypes and allele frequencies are significantly correlated when compared to those of healthy participants.

show abstract

Evaluation of high-risk type 1 diabetes HLA-DR and DQ haplotypes using three single nucleotide polymorphisms in a population from Southern Brazil

Cited by 2 publications

References 1 publication

A non‐codingRNASEH1gene variant associates with type 1 diabetes and interacts withHLA tagSNPsin families from Colombia

A non‐codingRNASEH1gene variant associates with type 1 diabetes and interacts withHLA tagSNPsin families from Colombia

Association of HLA-DRB1/DQB1 Alleles and Genetic Susceptibility to Type 1 Diabetes Mellitus

Contact Info

Product

Resources

About