A5101919923- Genetic Associations and Epidemiology
- Schizophrenia research and treatment
- Pharmacogenetics and Drug Metabolism
- Genetics and Neurodevelopmental Disorders
- Pharmacological Effects and Toxicity Studies
- Genomics and Rare Diseases
- Drug Transport and Resistance Mechanisms
- Epilepsy research and treatment
- Computational Drug Discovery Methods
- Genomic variations and chromosomal abnormalities
- Hypothalamic control of reproductive hormones
- Alzheimer's disease research and treatments
- Autism Spectrum Disorder Research
- Bioinformatics and Genomic Networks
- Chromosomal and Genetic Variations
- Helicobacter pylori-related gastroenterology studies
- Statistical Methods in Clinical Trials
- Cholinesterase and Neurodegenerative Diseases
- Pharmacological Receptor Mechanisms and Effects
- Metabolomics and Mass Spectrometry Studies
- Diet and metabolism studies
- Menopause: Health Impacts and Treatments
- Stress Responses and Cortisol
- Child and Adolescent Psychosocial and Emotional Development
- Neuroscience and Neuropharmacology Research
University of Washington
2023
University of Utah
2020-2021
Institute of Genomics and Integrative Biology
2008-2015
Council of Scientific and Industrial Research
2008-2014
Indian Institute of Technology Jodhpur
2010
Each human genome includes de novo mutations that arose during gametogenesis. While these germline represent a fundamental source of new genetic diversity, they can also create deleterious alleles impact fitness. Whereas the rate and patterns point in are now well understood, far less is known about frequency features structural variants (dnSVs). We report family-based study among 9,599 genomes from 33 multigenerational CEPH-Utah families 2,384 Simons Foundation Autism Research Initiative....
Abstract Background Alzheimer’s disease (AD) is one of the leading genetically complex and heterogeneous disorder that influenced by both genetic environmental factors. The underlying risk factors remain largely unclear for this disorder. In recent years, high throughput methodologies, such as genome-wide linkage analysis (GWL), association (GWA) studies, expression profiling (GWE), have led to identification several candidate genes associated with AD. However, due lack consistency within...
Aim: We investigated the catechol-O-methyltrasferase (COMT) gene, which is a strong functional and positional candidate gene for schizophrenia therapeutic response to antipsychotic medication. Materials & methods: Single-locus as well detailed haplotype-based association analysis of COMT with treatment was carried out using seven polymorphisms in 398 patients 241 healthy individuals from homogeneous south Indian population. Further responsiveness risperidone assessed 117 Clinical Global...
We investigated 16 polymorphisms from three genes, dopamine receptor D2 (DRD2), catechol-O-methyl transferase (COMT) and brain derived neurotrophic factor (BDNF), which are involved in the dopaminergic pathways, have been reported to be associated with susceptibility schizophrenia response antipsychotic therapy.Single-locus association analyses of these were carried out 254 patients 225 controls, all southern Indian origin. Additionally, multifactor-dimensionality reduction analysis was...
Background: The first-line antiepileptic drugs, although affordable and effective in the control of seizures, are associated with adverse drug effects, there is large interindividual variability appropriate dose at which patients respond favorably. This may partly be explained by functional consequences genetic polymorphisms drug-metabolizing enzymes, such as CYP450 family, microsomal epoxide hydrolase UDP-glucuronosyltransferases, transporters, mainly ATP-binding cassette targets, including...
Aims: It is hypothesized that functionally relevant polymorphisms in genes encoding metabolizing enzymes of sex steroids may influence drug response by directly predisposing women with epilepsy to seizure exacerbation. An alteration estradiol:progesterone ratio believed play a role occurrence women. CYP1A1 key enzyme involved the metabolism estradiol, variants gene having been reported hormone The objective present study was test for association genetic recurrence patients diagnosed...
Sex differences in pain become apparent during puberty. However, the influence of key pubertal characteristics and hormones on is largely unknown. We examined prospective associations between self-reported hormone-indicated incidence severity 10- to 11-year-old pain-free youth Adolescent Brain Cognitive Development (ABCD) Study over 1 year. Puberty was measured at baseline follow-up with self-report (Pubertal Scale [PDS]) hormonal assessment (salivary dehydroepiandrosterone [DHEA],...
Abstract Neurodevelopmental and neuroimmunological genes critically regulate antipsychotic treatment outcome. We report genetic associations of response in 742 schizophrenia patients from Indian populations Indo‐European Dravidian ancestry, segregated by disease severity. Meta‐analysis comparing the two identified CCL 2 [rs4795893: OR (95% CI ) = 1.79 (1.27–2.52), P 7.62 × 10 −4 ; rs4586: 1.74 (1.24–2.43), 1.13 −3 ] GRIA 4 [rs2513265: 0.53 (0.36–0.78), 1.44 low severity group; and, ADCY...
Literature suggests that disease severity and neurotransmitter signaling pathway genes can accurately identify antipsychotic response in schizophrenia patients. However, putative role of molecules has not been tested patients based on illness, despite its biological plausibility. In the present study we investigated possible association polymorphisms from five candidate RGS4, SLC6A3, PIP4K2A, BDNF, PI4KA with to variably ill Thus study, a total 53 SNPs basis previous reports functional...
Epilepsy is one of the most prevalent neurological disorders, afflicting approximately 50 million Indians. Owing to affordability and easy availability, use first-generation antiepileptic drugs (AEDs) heavily encouraged for treatment epilepsy in resource-limited countries such as India. Although AEDs are at par with second-generation terms efficacy, adverse drug reactions (ADRs) quite common them. This could be attributed inferior pharmacokinetic parameters nonlinear metabolism, narrow...
Pai, Pranita; Arathil, Praveen; Kotambail, Ananthapadmanabha; Nair, Rajesh; Gupta, Meenal; Moily, Nagaraj S.; Kukreti, Ritushree; Jain, Sanjeev; Rai, Padmalatha Gopinath, Puthiya M.; Sharma, Podila Satyamoorthy, Kapaettu Author Information
Abstract Each human genome includes de novo mutations that arose during gametogenesis. While these germline represent a fundamental source of new genetic diversity, they can also create deleterious alleles impact fitness. The mutation rate for single nucleotide variants and factors significantly influence this rate, such as parental age, are now well established. However, far less is known about the frequency, distribution, features structural mutations. We report large, family-based study...
The study of genetic syndromes characterized by sensitivity to DNA damaging agents has provided important insights into the mechanisms that maintain genome stability and identified novel targets for cancer therapies. Here, we used exome sequencing 51 unrelated individuals with previously reported hypersensitivity ionizing radiation as well a range neurologic, immunologic, developmental features, but who did not clearly fit any defined syndrome. Based on combination variant identification,...