Objective: Zinc transporter 8 (ZnT8) is a multi-transmembrane protein situated in the insulin secretory granule of the islets of β-cells and is identified as a novel auto-antigen in type 1 diabetes (T1D). The gene coding for ZnT8, solute carrier family 30 member 8 ( SLC30A8 ) is located on chromosome 8q24.11. This study aimed to identify the association of SLC30A8 rs13266634 C/T gene polymorphism with T1D in a sample of T1D children in Tamil Nadu, India. Methods: The family based study was conducted in 121 T1D patients and 214 of their family members as controls. The SLC30A8 gene rs13266634 C/T polymorphism was evaluated by polymerase chain reaction-restriction fragment length polymorphism. Results: No significant differences were observed in either allele (odds ratio: 0.92; confidence interval: 0.33-2.58; p=0.88) and genotype (CC: p=0.74; CT: p=0.82; TT: p=0.80) frequencies of rs13266634 C/T between T1D patients and controls. Transmission disequilibrium test has identified over-transmission of mutant T allele from parents to affected children (T: U=9:7) without statistical significance. Metaanalysis on the overall effects of rs13266634 C allele frequency was not different (p=0.10 and P heterogeneity =0.99) in T1D patients as compared to the controls. Conclusion: The present study along with the meta-analysis does not show any substantial association of the rs13266634 C/T polymorphism with T1D development in this population.
AimHuman leucocyte antigen-G (HLA-G) and tumour necrosis factor-alpha (TNF-α) are potent immune mediators implicated in the pathogenesis of breast cancer. The polymorphisms in the 3' untranslated region (3'UTR) of HLA-G and promoter region of TNF-α are well known to influence their expression levels and may consequently contribute to varied disease predisposition. Therefore, in the present study, we explored the effect of HLA-G 3'UTR (14-bp Ins/Del and +3142 C/G) and TNF-α promoter (–238 G/A and –308 G/A) polymorphisms on breast cancer risk among South Indian women.MethodsA total of 342 women (100 patients with breast cancer, 142 patients with benign breast disorder and 100 healthy women volunteers) were enrolled for this study. Genotyping of HLA-G and TNF-α polymorphisms were performed by direct PCR DNA amplification and amplification refractory mutation system PCR methods, respectively.ResultsSignificantly higher frequencies of HLA-G 14-bp Ins allele and Ins/+3142G haplotype were observed in patients with breast cancer than healthy controls (OR=1.56, Pc=0.036) and patients with benign breast disorder (OR=1.47, Pc=0.046). Similarly, subgroup analysis based on age at diagnosis (age≤50 years and >50 years) of breast cancer revealed higher frequencies of 14-bp Ins allele and Ins/+3142G haplotype in the patients of age >50 years than healthy controls (OR=1.77, Pc=0.03). Additionally, the extended haplotypes and multifactor dimensionality reduction analysis of the studied polymorphisms revealed significant contribution of HLA-G 14-bp Ins/Del polymorphism towards breast cancer risk.ConclusionThe findings of the present study suggest that the HLA-G 14-bp Ins/Del polymorphism could influence breast cancer pathogenesis among South Indian women.
Background: Vitamin D is a potent immune modulator associated with autoimmune diseases, predominantly Type 1 diabetes (T1D). Background: Vitamin D is a potent immune modulator and is associated with autoimmune diseases, predominantly Type 1 diabetes (T1D). The vitamin D status and its receptor gene polymorphisms in T1D are yet investigated in the South Indian population. Objective: The focus of the present study is to explore the significance of vitamin D levels and Vitamin D receptor (VDR) gene polymorphisms with the risk of T1D in the South Indian population. Methods: A total of 120 T1D patients and 214 unaffected first-degree relatives (FDRs) were enrolled in this study. Genotyping of VDR polymorphisms at four different loci (FokI- F/f, BsmI- B/b, TaqI- T/t, and ApaI- A/a) were assessed through the ARMS-PCR method. Serum vitamin D levels were measured in 98 T1D patients and 75 age and sex-matched siblings by the ELISA method. Results: Vitamin D deficiency (VDD) was observed in a higher proportion of T1D patients than in controls (52% vs. 32%; p<0.03). The frequency of FokI-FF genotype was significantly higher (OR=1.66; p<0.03) in T1D patients conferring susceptible association with the disease. Nevertheless, the increased frequency of heterozygous Ff genotype (OR=0.57; p<0.02) among controls may confer a protective association with T1D. Further, the TDT analysis revealed over the transmission of ApaI-A (T: U=15/5; p<0.006) and BsmI-B (T: U=17/5; p<0.01) alleles and under-transmission of BsmI-b/ApaI-a/TaqI-T haplotype (T: U=5.4/14.4; p=0.04) from parents to T1D patients. Conclusion: The present study concludes that VDD is one of the major contributing risk factors to T1D development in the South Indian population. Furthermore, the FokI-FF genotype, BsmI-B, and ApaI-A alleles are positively associated with T1D risk. Whereas, the FokI-Ff genotype and BsmI-b/ApaI-a/TaqI-T haplotype are negatively associated with the disease.
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