Publications by authors named "Veluchamy Abirami"

RO and ChRCC are kidney tumours with overlapping characteristics, making differentiation between them challenging. The objective of this research is to create a radiogenomics map by correlating radiomic features to molecular phenotypes in ChRCC and RO, using resection as the gold standard. Fourteen patients (6 RO and 8 ChRCC) were included in the prospective study.

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  • Dilated cardiomyopathy (DCM) is a major cause of heart failure, and this study analyzes genetic factors by examining 14,256 DCM cases and 36,203 participants from the UK Biobank for related traits.
  • Researchers discovered 80 genomic risk loci and pinpointed 62 potential effector genes tied to DCM, including some linked to rare variants.
  • The study uses advanced transcriptomics to explore how cellular functions contribute to DCM, showing that polygenic scores can help predict the disease in the general population and emphasize the importance of genetic testing and development of precise treatments.
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  • The study explored genetic links to neuropathic pain by comparing individuals with the condition to those who had injuries but did not experience neuropathic pain.
  • Key findings included significant associations with the KCNT2 gene and pain intensity, as well as other genes like LHX8 and TCF7L2 connected to neuropathic pain.
  • The research also highlighted the influence of polygenic risk scores related to depression and inflammation on neuropathic pain, while discovering novel genetic variants tied to specific sensory profiles.
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Background And Purpose: In these guidelines, we aimed to develop evidence-based recommendations for the use of screening questionnaires and diagnostic tests in patients with neuropathic pain (NeP).

Methods: We systematically reviewed studies providing information on the sensitivity and specificity of screening questionnaires, and quantitative sensory testing, neurophysiology, skin biopsy, and corneal confocal microscopy. We also analysed how functional neuroimaging, peripheral nerve blocks, and genetic testing might provide useful information in diagnosing NeP.

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Neuropathic pain is difficult to treat, and an understanding of the risk factors for its onset and resolution is warranted. This study aimed to develop and externally validate two clinical risk models to predict onset and resolution of chronic neuropathic pain. Participants of Generation Scotland: Scottish Family Health Study (GS; general Scottish population; n = 20,221) and Genetic of Diabetes Audit and Research in Tayside Scotland (GoDARTS; n = 5236) were sent a questionnaire on neuropathic pain and followed- -up 18 months later.

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Introduction: There are concerns about rising drug-related deaths and the potential contribution of prescription analgesics. There is limited understanding regarding the role of prescription analgesics in non-fatal overdoses (NFODs), nor is there a good understanding of what factors are associated with more severe overdose.

Objectives: To explore risk factors and characteristics of NFODs among people attending a specialist community-based substance misuse service.

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Aims/hypothesis: South Asians in general, and Asian Indians in particular, have higher risk of type 2 diabetes compared with white Europeans, and a younger age of onset. The reasons for the younger age of onset in relation to obesity, beta cell function and insulin sensitivity are under-explored.

Methods: Two cohorts of Asian Indians, the ICMR-INDIAB cohort (Indian Council of Medical Research-India Diabetes Study) and the DMDSC cohort (Dr Mohan's Diabetes Specialties Centre), and one of white Europeans, the ESDC (East Scotland Diabetes Cohort), were used.

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Importance: Neuropathic pain (NP) has important clinical and socioeconomic consequences for individuals and society. Increasing evidence indicates that genetic factors make a significant contribution to NP, but genome-wide association studies (GWASs) are scant in this field and could help to elucidate susceptibility to NP.

Objective: To identify genetic variants associated with NP susceptibility.

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  • The HERMES consortium is focused on understanding the genomic and molecular factors that contribute to heart failure by analyzing data from a large number of studies worldwide.
  • It includes 51 studies from 11 countries, gathering data from over 68,000 heart failure cases and nearly 950,000 controls, with broad demographic representation and long follow-up periods.
  • The main goals are to identify genetic risk factors for heart failure, explore causal pathways, and create tools to help stratify patients and predict risks based on their genetic information.
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Purpose: Neuropathic pain is a common disorder of the somatosensory system that affects 7%-10% of the general population. The disorder places a large social and economic burden on patients as well as healthcare services. However, not everyone with a relevant underlying aetiology develops corresponding pain.

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Background: Gabapentinoid drugs (gabapentin and pregabalin) are effective in neuropathic pain, which has a prevalence of ∼7%. Concerns about increased prescribing have implications for patient safety, misuse, and diversion. Drug-related deaths (DRDs) have increased and toxicology often implicates gabapentinoids.

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  • Angioedema in the head and neck due to ACE inhibitors (ACEIs) and angiotensin receptor blockers (ARBs) is rare but can be life-threatening, with limited studies on genetic variants linked to this reaction.
  • Researchers analyzed genetic data from 1,066 participants, including 408 with angioedema and 658 controls, finding a significant connection between a common variant in the F5 gene (factor V Leiden) and an increased risk of angioedema.
  • The study also identified rare variants in the F5 gene that contribute to higher risks of ACEI or ARB-induced angioedema, supported by a genome-wide association study confirming the link with the F5 Leiden variant.
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  • * Researchers analyzed data from a cohort of Swedish patients and identified potential genetic links, particularly focusing on the KCNMA1 gene, which showed a significant association with angioedema risk.
  • * Although initial findings did not replicate in a separate group, a combined analysis indicated that specific genetic variants could raise the likelihood of developing angioedema by 1.62 times, suggesting further research into genetic screening for patients taking these medications.
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Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insights, leaving the observed heritability of HF largely unexplained. We report results from a GWAS meta-analysis of HF comprising 47,309 cases and 930,014 controls.

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Objective: The retina may provide readily accessible imaging biomarkers of global cardiovascular health. Increasing evidence suggests variation in retinal vascular traits is highly heritable. This study aimed to identify the genetic determinants of retinal vascular traits.

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  • Neuropathic pain (NP) is a type of chronic pain that affects about 7% to 10% of people, and some people may be more likely to have it because of their genes.
  • In a study, researchers looked at 29 articles and found 28 genes linked to NP, many of which are involved in how our body communicates and reacts to pain.
  • Some specific genes were found to increase the risk of getting NP, while one gene seemed to lower the risk, showing that our genetics can play a big role in experiencing this type of pain.
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Aims: A genetic variant in LILRB5 (leukocyte immunoglobulin-like receptor subfamily-B) (rs12975366: T > C: Asp247Gly) has been reported to be associated with lower creatine phosphokinase (CK) and lactate dehydrogenase (LDH) levels. Both biomarkers are released from injured muscle tissue, making this variant a potential candidate for susceptibility to muscle-related symptoms. We examined the association of this variant with statin intolerance ascertained from electronic medical records in the GoDARTS study.

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Background: To test the association of a recently reported variant in the creatine kinase (CK) muscle gene, Glu83Gly (rs11559024) with constitutive creatine phosphokinase (CK) levels, CK variation, and inducibility. Given the diagnostic importance of CK in determining muscle damage, we tested the association of the variant with myalgia.

Methods And Results: Meta-analysis between longitudinal cohort GoDARTS (Genetics of Diabetes Audit and Research, Tayside Scotland), minor allele frequency (=0.

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Objectives: To identify single nucleotide polymorphisms (SNPs) associated with switching from an angiotensin-converting enzyme (ACE)-inhibitor to an angiotensin receptor blocker.

Methods: Two cohorts of patients starting ACE-inhibitors were identified within the Rotterdam Study in the Netherlands and the Genetics of Diabetes Audit and Research in Tayside Scotland study in Scotland. Cases were intolerant patients who switched from an ACE-inhibitor to an angiotensin receptor blocker and controls were individuals who used ACE-inhibitors continuously for at least 2 years and did not switch.

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Purpose: Diabetic cataract is one of the major eye complications of diabetes. It was reported that cataract occurs two to five times more frequently in patients with diabetes compared with those with no diabetes. The purpose of this study was to identify genetic contributors of diabetic cataract based on a genome-wide association approach using a well-defined Scottish diabetic cohort.

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