Showing posts with label SNPs. Show all posts
Showing posts with label SNPs. Show all posts

Friday, 18 July 2025

Role of TNF-α Gene Polymorphism as a Biomarker of Diabetic Nephropathy: A Study among Patients of the Telangana Region, India | Chapter 13 | Medical Science: Recent Advances and Applications Vol. 7

 

Background: Diabetic Nephropathy (DN) is one of the complications in patients with prolonged diabetes. Diabetic nephropathy disorder is most commonly observed in patients with prolonged diabetes, even though other microvascular diseases due to diabetes are also observed. Among the genetic risk factors for DN, TNF-α, an anti-inflammatory cytokine, is proposed to act in a paracrine/autocrine manner and is hypothesised to be associated with insulin resistance. In the current study, the relationship of the G  C variant of the TNF-α gene in patients, associated with other biochemical parameters, with DN was investigated.

 

Aim: The aim of the study was to investigate the inflammatory markers that are involved in the pathogenesis of diabetic nephropathy and could serve as predictive or diagnostic biomarkers.

 

Methods: Demographic factors of the study group were obtained by directly interviewing the study group. Biochemical and diagnostic parameters of the study subjects, plasma glucose levels (fasting and postprandial), and renal function tests (Urea, creatinine) were obtained from the patient’s records. Genomic DNA was extracted from peripheral blood samples of 50 type II Diabetes Mellitus (T2DM) and 50 non-diabetic control subjects.

 

The TNF-α (G    C) polymorphism was analysed using polymerase chain reaction (PCR), followed by restriction fragment length (RFLP) polymorphism analysis.

 

Results: Using statistical analysis, it was possible to correlate demographic parameters with genotyping results, and it was found that 50% patients were GG homozygotes (wild type), 30% were GC heterozygotes, and 20% were CC homozygotes. This suggests that low-grade inflammation could be one of the determinants in the pathogenesis of insulin resistance and T2DM. Most of the patients (80%) in the hospital were not physically active, and these patients had much longer inpatient stays when compared to the patients who were involved in regular physical exercise. The control of inflammatory processes may be useful in the therapy of DN. As there is limited experience available for the inhibition of inflammatory cytokines in DN, it is beneficial to collect and mount evidence for the properties of inflammatory genes.

 

Conclusion: We conclude from this preliminary study that TNF-α G   C genotypes may be a useful biomarker for the early diagnosis of T2DM patients with insulin resistance and nephropathy.

 

Author(s) Details

Kaiser Jamil
Department of Genetics, Bhagwan Mahavir Medical Research Centre, Masab Tank, Hyderabad-500004, Telangana, India.

 

Owaisul Haq
Department of Genetics, Bhagwan Mahavir Medical Research Centre, Masab Tank, Hyderabad-500004, Telangana, India.

 

Zamin Ahmed
Department of Genetics, Bhagwan Mahavir Medical Research Centre, Masab Tank, Hyderabad-500004, Telangana, India.

 

Sindhu Joshi
Mahavir Hospital and Research Centre, Masab Tank, Hyderabad-500004, Telangana, India.

 

Please see the book here:- https://doi.org/10.9734/bpi/msraa/v7/5716

 

Tuesday, 2 April 2024

Genetic Variants as a Prostate Cancer Risk | Chapter 11 | New Visions in Medicine and Medical Science Vol. 2

 Prostate cancer is one of the most frequent and potentially fatal cancers in males globally. Prostate cancer is a multifactorial disease caused by the interaction of one or more factors. In prostate cancer, several genetic alterations are involved. Due to their high complexity, these genetic modifications must be taken into consideration. These alterations not only account for a large portion of cancer deaths but also have a major impact on the effectiveness of medication. A significant challenge with advanced disease is that many hypothesized underlying pathways remain unknown or inadequately understood due to insufficient evidence. This chapter presents the available data on related pathways (DNA damage repair, androgen receptor and tumor suppression), examining each genetic anomaly (somatic copy number alterations, structural rearrangements, point mutations, SNPs, miRNA) and other related factors (P13K pathway, epigenetics, apoptosis inhibition, oxidative damage) that could be connected to the carcinogenesis of prostate cancer.


Author(s) Details:

Pradhumn,
Department of Genetics, Maharshi Dayanand University, Rohtak, Haryana-124001, India.

Preeti Chauhan,
Department of Biotechnology, CCT, Chandigarh Group of Colleges, Landran, Mohali, Chandigarh-140307, India.

Shalu Ranga,
Department of Genetics, Maharshi Dayanand University, Rohtak, Haryana-124001, India.

Ritu Yadav,
Department of Genetics, Maharshi Dayanand University, Rohtak, Haryana-124001, India.

Please see the link here: https://stm.bookpi.org/NVMMS-V2/article/view/13806

Saturday, 8 October 2022

Computational Analysis of the Functional and Structural Impact of SNPs Present in Genes of the Mitochondrial Biogenesis Pathway | Chapter 4 | Research Aspects in Biological Science Vol. 9

 SNPs are brief alterations that have the potential to alter proteins' amino acid composition and thus their function. Algorithms that are readily available online can be used to assess the structural and functional effects of these alterations. In the current study, three of these tools—SIFT, PolyPhen, and EFIN—were used with various methodologies, including alignment with homologous sequences, structural characteristic analysis, and random forest method analysis. To determine which nsSNPs might be regarded as harmful, all 232 SNPs found in the dbSNP that were associated with the PGC-1, NRF-1, NRF-2, PPAR, ERR, and MEF-2 genes—the key regulators of the mitochondrial biogenesis pathway—were analysed. SNPs are brief alterations that have the potential to alter proteins' amino acid composition and thus their function. Algorithms that are readily available online can be used to assess the structural and functional effects of these alterations. In the current study, three of these tools—SIFT, PolyPhen, and EFIN—were used with various methodologies, including alignment with homologous sequences, structural characteristic analysis, and random forest method analysis. To determine which nsSNPs might be regarded as harmful, all 232 SNPs found in the dbSNP that were associated with the PGC-1, NRF-1, NRF-2, PPAR, ERR, and MEF-2 genes—the key regulators of the mitochondrial biogenesis pathway—were analysed.


Author(s) Details:

Michelly Ferreira Ribeiro,
Universidade Católica de Brasília, St. de Grandes Áreas Norte 916 - Asa Norte, DF- 70790-160, Brasília.

Sérgio Amorim de Alencar,
Universidade Católica de Brasília, St. de Grandes Áreas Norte 916 - Asa Norte, DF- 70790-160, Brasília.

Please see the link here: https://stm.bookpi.org/RABS-V9/article/view/8345