Molecular genetics of neuropsychiatric illness: some musings.

Research into the genetic underpinnings of neuropsychiatric illness has occurred at many levels. As more information accumulates, it appears that many approaches may each offer their unique perspective. The search for low penetrance and common variants, that may mediate risk, has necessitated the formation of many international consortia, to pool resources, and achieve the large sample sizes needed to discover these variants.

Association study of Val66Met gene polymorphism with bipolar disorder and lithium treatment response in Indian population.

Background: The association of the Val66Met (rs6265) polymorphism in the brain-derived neurotrophic factor () gene with bipolar disorder (BD) and response to lithium treatment has been suggested, though inconsistently. The considerable diversity of allele frequency across different populations contributes to this. There is no data from South Asia till date.

Higher interleukin-33 levels in aggressive periodontitis cases.

Context: Interleukin-33 (IL-33) is a novel alarmin that warns immune cells of tissue destruction in injury or infection.

Aims: This study is aimed at analyzing and correlating the concentration of IL-33 in the gingival crevicular fluid (GCF) and plasma of healthy subjects and chronic and aggressive periodontitis patients with intronic variant single nucleotide polymorphisms (SNPs), rs1157505 (C/G) and rs7044343 (C/T) in the IL-33 gene.

Settings And Design: This is a cross-sectional, biochemical, genetic study.

Does retinoic acid reverse cell cycle dysregulation in Alzheimer's disease lymphocytes?

Aberrant re-entry of neurons into cell cycle appears to be an early event in Alzheimer's disease (AD) and targeting this dysregulation may have therapeutic potential. We have examined whether cell cycle dysregulation in AD can be detected using patient and control derived B-lymphocytes. Cell cycle analysis using flow cytometry demonstrated that cell cycle dysregulation occurs in AD lymphocytes, with a significant difference in the distribution of cells in G0/G1, S and G2/M phases of cell cycle as compared to control lymphocytes.

Mutation burden profile in familial Alzheimer's disease cases from India.

This study attempts to identify coding risk variants in genes previously implicated in Alzheimer's disease (AD) pathways, through whole-exome sequencing of subjects (N = 17) with AD, with a positive family history of dementia (familial AD). We attempted to evaluate the mutation burden in genes encoding amyloid precursor protein metabolism and previously linked to risk of dementias. Novel variants were identified in genes involved in amyloid precursor protein metabolism such as PSEN1 (chr 14:73653575, W161C, tgg > tgT), PLAT (chr 8:42039530,G272R), and SORL1 (chr11:121414373,G601D).

BDNF gene and obsessive compulsive disorder risk, symptom dimensions and treatment response.

Aim: Genetic etiology of Obsessive Compulsive Disorder (OCD) has been investigated extensively, with mixed results across candidate gene studies. The dimensional subtypes of OCD are shown to better correlate with brain imaging endophenotypes and thus could potentially enhance the power of genetic association. In this study, we perform a case control analysis of association of a single nucleotide polymorphism rs6265(Val66Met) in Brain Derived Neurotrophic Factor gene, that has been previously implicated in a variety of psychiatric syndromes, and examine its association with symptom dimensions of OCD.

An exploratory association study of the influence of dysbindin and neuregulin polymorphisms on brain morphometry in patients with schizophrenia and healthy subjects from South India.

Multiple genetic risk variants may act in a convergent manner leading on to the pathophysiological alterations of brain structure and function in schizophrenia. We examined the effect of polymorphisms of two candidate genes that mediate glutamatergic signaling, viz., dysbindin (rs1011313) and neuregulin (rs35753505), on brain morphometry in patients with schizophrenia (N=38) and healthy subjects (N=37) from South India.