Cytokine gene polymorphisms are known to be associated with functional differences in cytokine regulation and may affect host susceptibility to tuberculosis (TB). Contacts are important group in developing tuberculosis infection and are 10–60 times more likely to develop TB than general population. The present study was carried out in patients with TB (N = 176), their household contacts (HHC; N = 155) from Free Chest TB Clinic PPM DOTS (1TU) covering 500,000 population at Mahavir Hospital and Research Centre, Hyderabad, and healthy controls (HC; N = 170) also included. The association of single‐nucleotide polymorphisms (SNPs) in the promoter region of TNF‐α (−308G/A), IL‐2 (−330T/G), IL‐4 (−589C/T) and in exon region of TGF‐β1 (+869T/C) genes was assessed by ARMS & PCR‐RFLP using specific primers in the above‐mentioned subjects. The differences in allelic or genotypic frequencies of TNF‐α (−308G/A) between patients, their HHC and HC were not statistically significant (P > 0.05). IL‐2 (−330T/G) TG genotype was significantly different between patients, HHC compared to HC (P < 0.002, OR‐1.997, 95%CI‐1.260‐3.168, P < 0.03, OR‐1.602, 955CI‐1.003‐2.561).IL‐4 (−589C/T) CC genotype was significantly different between patients and HC (P < 0.03, OR‐1.791, 95%CI‐1.009‐3.189) as well as between HHC and HC at P < 0.0001, OR‐2.56, 95%CI‐1.448‐4.545. In addition, the TGF‐β 1 (+869T/C) TC genotype was significantly associated with susceptibility to tuberculosis in patients when compared against HC(P < 0.0001, OR‐3.416, 95%CI‐2.063‐5.670) and HHC (P < 0.0001, OR‐2.357, 95%CI‐1.439‐3.868), respectively.MDR analysis indicated that TT genotype of TGF‐β1 with TT and CT genotypes of IL‐4 showed high risk with GA, TT genotypes of TNF‐α, IL‐2, respectively. Our results suggest that IL‐2 (‐330T/G), IL‐4 (‐589 C/T) and TGF‐β1 (+869T/C) gene polymorphisms may be associated with TB susceptibility.
TCF7L2 rs7903146 polymorphism and diabetic nephropathy association is not independent of type 2 diabetes -a study in a south Indian population and meta-analysis Związek między polimorfizmem rs7903146 genu TCF7L2 a nefropatią cukrzycową nie jest niezależny od cukrzycy typu 2 -badanie populacji Indii Południowych i metaanaliza AbstractDiabetic nephropathy (DN) is a chronic microangiopathic complication of both type 1 (T1DM) and type 2 diabetes mellitus (T2DM). The TCF7L2 gene has been reported to be associated with type 2 diabetes risk. We aimed to investigate the impact of TCF7L2 gene on the susceptibility of T2DM and DN in a south Indian population. Plus to evaluate the association of rs7903146 in the TCF7L2 gene with T2DM in the Indian population. The subjects recruited for this included 55 diabetic cases with diabetic nephropathy, 68 diabetic cases without nephropathy, and 82 non-diabetic healthy controls. Genomic DNA was isolated from blood and genotyping of TCF7L2 rs7903146 was performed by PCR-RFLP analysis. A literature survey was carried out into the effect of rs7903146 on genetic susceptibility to T2DM in Indian populations and we then performed a meta-analysis in order to evaluate its association with T2DM. Analysis of TCF7L2 rs7903146 in normal controls and diabetics with or without nephropathy demonstrated that the 'T' allele is associated with both diabetes (p = 0.049) and DN (p = 0.024), but this association is not independent of T2DM. Meta-analysis showed that the mutant allele and genotypes are associated with T2DM in Indian populations. In summary, a significant association exists between the 'T' allele and DN, but this association is not independent of T2DM. Pooled meta-analysis of studies on rs7903146 and T2DM confirmed that rs7903146 is significantly associated with susceptibility to T2DM in Indian populations. (Endokrynol Pol 2014; 65 (4): 298-305) Key words: TCF7L2 gene; SNP; diabetic nephropathy StreszczenieNefropatia cukrzycowa (DN, diabetic nephropathy) jest przewlekłym powikłaniem o charakterze mikroangiopatii występującym zarówno w cukrzycy typu 1 (T1DM, type 1 diabetes mellitus), jak i typu 2 (T2DM, type 2 diabetes mellitus). Gen TCF7L2 jest związany z ryzykiem cukrzycy typu 2. Badanie przeprowadzono w celu dokonania oceny wpływu genu TCF7L2 na podatność na zachorowanie na T2DM i DN w populacji Indii Południowych oraz oceny związku między występowaniem polimorfizmu rs7903146 genu TCF7L2 i T2DM w populacji południowej części Indii. Do badania włączono 55 przypadków chorych na cukrzycę z nefropatią cukrzycową, 68 przypadków cukrzycy bez nefropatii i 82 osoby niechorujące na cukrzycę jako grupę kontrolną. Genomowe DNA izolowano z krwi i przeprowadzono genotypowanie polimorfizmu rs7903146 genu TCF7L2 metodą analizy PCR-RFLP. Przeprowadzono również przegląd literatury pod kątem danych dotyczących wpływu występowania polimorfizmu rs7903146 na genetyczną podatność na T2DM w populacji hinduskiej, a następnie przeprowadzono metaanalizę w celu oceny jego związku z T2DM. Analiza polimorfizmu r...
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