Association of cytotoxic T lymphocyte-associated antigen 4 gene single nucleotide polymorphism with type 1 diabetes mellitus in Madurai population of Southern India

Philip, Beatrice; Isabel, W.

doi:10.4103/0971-6866.86189

Cited by 13 publications

(5 citation statements)

References 17 publications

(21 reference statements)

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“…This finding was highly suggestive that CTLA-4 (+49 A) alleles were protective alleles for T1DM while, CTLA-4 (+49 G) allele was susceptible to T1DM. Our findings match with those mentioned in earlier studies of Turkish, 52 Chinese, 53 Madurai population of India, 54 and Belgian 55 populations. This finding provides clues in the understanding of the established scientific evidence that the CTLA-4 (+49 G) allele is a susceptible allele for T1DM and CTLA-4 exon 1 +A49G polymorphism is associated with T1DM.…”

Section: Discussionsupporting

confidence: 93%

Association of Cytotoxic T-Lymphocyte Antigen-4 Gene Polymorphism with Type 1 Diabetes Mellitus: In silico Analysis of Biological Features of CTLA-4 Protein on Ethiopian Population

Ebrahim¹,

Teklu²,

Tajebe³

et al. 2022

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Background: T1DM is a chronic organ-specific T-cell-mediated autoimmune disease characterized by the selective destruction of βcells in the islets of Langerhans, resulting in insulin deficiency and hyperglycemia. Genes for cytotoxic T lymphocyte-associated antigen 4 have been hypothesized as possible contender genes for T1DM vulnerability. However, it has not been studied in the Ethiopian population yet. Objective: The aim of the study was to investigate CTLA-4 exon 1 was linked to A49G polymorphism with T1DM and its biological features of CTLA-4 among T1DM patients, in Ethiopia. Methods: A case-control study was done from December 2019 to March 2020 on 210 study participants (105 T1DM patients and 105 healthy controls). Polymerase Chain Reaction amplification with forward and reverse primers was followed by restriction fragment length polymorphism and gel electrophoresis to determine gene polymorphism. Bioinformatics data of SNP was retrieved from National Centers for Biotechnology Information databases. The chi-square test and logistic regression were used. Statistical significance was defined as a P-value of less than 0.05. Results:The CTLA-4 (+A49G) gene polymorphism was observed on 56 (26.7%) study participants, 39 (18.57%) of T1DM patients, and 17 (0.08%) were controls. In T1DM and controls, the frequency of the A allele was 73.3% and 89.5%, while the G allele was 26.7% and 10.5%, respectively. The G allele was found to be associated with T1DM (OR=3.1; 95% CI, 1.82 −5.32; P=0.001). Statistical analysis revealed an association between the likelihood of T1DM and GG genotype of the CTLA-4 (+A49G) gene polymorphism (OR=3.11; 95% CI, 1.37-10.90; P=0.01). Further in silico analyzed the SNP to assess its biological features. Conclusion:The study showed as CTLA-4 (+A49G) gene polymorphism is linked with T1DM in the Ethiopian population.

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Section: Discussionsupporting

confidence: 93%

Association of Cytotoxic T-Lymphocyte Antigen-4 Gene Polymorphism with Type 1 Diabetes Mellitus: In silico Analysis of Biological Features of CTLA-4 Protein on Ethiopian Population

Ebrahim¹,

Teklu²,

Tajebe³

et al. 2022

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“…Fig. shows the published frequencies of CTLA4+49G allele in patients with T1D and their comparison with that in healthy controls from various populations including that of the current study (Nistico et al ., ; Donner et al ., ; Marron et al ., ; Awata et al ., ; Osei‐Hyiaman et al ., ; Zalloua et al ., ; Kavvoura & Ioannidis, ; Benmansour et al ., ; Philip & Isabel, ). Some of the populations such as the Chinese, Korean and Japanese are characterized by a particularly high frequency of the +49G allele in the healthy state.…”

Section: Discussionmentioning

confidence: 98%

“…Studies carried out in the Asian populations, for example the Chinese (Jin et al, 2009) and Japanese (Takara et al, 2000) have reported an association of CTLA4+49A/G polymorphism with susceptibility to T1D. However, except for two smaller studies conducted on T1D patients from North (Baniasadi et al, 2006) and South India (Philip & Isabel, 2011), no comprehensive information on the association of CTLA4+49A/G polymorphism with T1D is available in the Indian population. Ethnically, the North and South Indians represent different genetic architecture (Reich et al, 2009) with differing patterns of genetic association with diseases (Mehra, 2010).…”

Section: Introductionmentioning

confidence: 99%

CTLA4+49G allele associates with early onset of type 1 diabetes in North Indians

Kumar

Kaur

Kanga

et al. 2015

Int J Immunogenetics

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Type 1 diabetes (T1D) is a complex autoimmune disease with strong genetic influence. In this study, we investigated +49A/G SNP (rs 231775) in exon 1 of cytotoxic T-lymphocyte-associated antigen 4 (CTLA4) by PCR-RFLP and its influence as a risk factor for the disease in the North Indian population. This polymorphism at codon 17 results in an amino acid substitution (Thr/Ala) in the leader peptide of the molecule. The study included 232 patients with T1D (age at onset of disease (AOD): 0.5-37 years) and 305 ethnically matched healthy controls. The DNA obtained from these 537 individuals was amplified using a set of specific primers followed by restriction enzyme digestion with Fnu4HI. The +49G allele as well as its homozygous genotype G/G was observed to be significantly higher in patients as compared to the healthy controls {(37.3% vs. 25.6%, P = 4.96E(-05) , OR = 1.73; 95%CI = 1.33-2.25) (15.52% vs. 6.6%, P = 0.001, OR = 2.62; 95% CI = 1.48-4.63) respectively}. The frequency of G/G genotype was significantly higher in patients with early age at onset of disease (AOD:<12 years) as compared to that in the late-onset patients with AOD: ≥12 years (21.1% vs. 10.6%, P = 0.042, OR = 2.26; 95% CI = 1.09-4.67) as well as to that in the healthy controls (21.1% vs. 6.6%, P = 0.00004, OR = 3.8; 95% CI = 2.01-7.2). Further analysis revealed that the median AOD significantly reduced (P = 0.049) from 14 years in patients with A/A genotype to 11 and 10 years in those with A/G and G/G genotypes, respectively. These results suggest that CTLA4+49G allele, particularly in homozygous G/G condition, associates with early onset of T1D.

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“…An increase in the incidence of T1DM in India has been observed in the recent years, and hence successful management of the disease requires understanding the etiology of the condition. 15 Shared genetic variants in T1DM, T2DM and their influence in the incidence and progression of diabetes mellitus has also been explored intensely in the recent years. Of the several candidate genetic variants associated with diabetes, the HMG group of TCF or LEF family genes, TCF7, and TCF7L2, are identified to be significantly associated with the incidence and disease progression of both T1DM and T2DM.…”

Section: Discussionmentioning

confidence: 99%

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

Velayutham¹,

Ramanathan²,

Selvan³

et al. 2019

Int J Community Med Public Health

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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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Association of cytotoxic T lymphocyte-associated antigen 4 gene single nucleotide polymorphism with type 1 diabetes mellitus in Madurai population of Southern India

Cited by 13 publications

References 17 publications

Association of Cytotoxic T-Lymphocyte Antigen-4 Gene Polymorphism with Type 1 Diabetes Mellitus: In silico Analysis of Biological Features of CTLA-4 Protein on Ethiopian Population

Association of Cytotoxic T-Lymphocyte Antigen-4 Gene Polymorphism with Type 1 Diabetes Mellitus: In silico Analysis of Biological Features of CTLA-4 Protein on Ethiopian Population

CTLA4+49G allele associates with early onset of type 1 diabetes in North Indians

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

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