Association of the CDH13 gene variant rs9940180 with schizophrenia risk in North Indian population.

BACKGROUND AND OBJECTIVES: Cadherin13 (CDH13) is an uncommon cadherin family member, lacking a transmembrane domain, and attaches via a glycosylphosphatidylinositol anchor to the peripheral surface of the cell membrane. CDH13 plays an important role in the development and maintenance of axonal growth cones, synapse morphogenesis, and the embryonic neural tube. Cadherin superfamily genes have been associated with many neuropsychiatric diseases. Studies have shown the Cadherin13 gene as a risk locus for Schizophrenia (SCZ). In this study, we investigated CDH13 gene variants rs7204454 in the promotor region and rs9940180 in the intronic region of the gene with susceptibility to SCZ risk in the population of Jammu region of J&K, India. METHODS: The genotyping was performed using TaqMan assay, where 560 individuals, comprising 164 patients and 396 healthy controls, were genotyped. RESULTS: The result of the study suggested rs9940180 was significantly found to be associated with Schizophrenia and the "C" allele of rs9940180 was associated with increased risk for SCZ (P = 0.03817; OR = 1.527; 95% CI, 1.022-2.28) whereas the other variant rs7204454 of CDH13 gene did not show significant association with schizophrenia risk with P = 0.8827, OR = 0.582-1.33 at 95% CI. CONCLUSION: This is the first report suggesting a significant association of polymorphism at CDH13 rs9940180 with Schizophrenia in the Dogra population group of the Jammu region. The current study offers a piece of important information on the genetic reason for CDH13 in the Jammu population of J&K. Also, it supports the GWAS findings on the correlation of CDH13 in schizophrenia.

Genetic evidence for association of NOTCH4 variant rs2071287 with schizophrenia susceptibility in the North Indian population.

Background: Neurogenic locus notch homolog 4 (NOTCH4) regulates signaling pathways associated with neuronal maturation, a process involved in the development and patterning of the central nervous system. The NOTCH4 gene has also been identified as a possible susceptibility gene for schizophrenia (SCZ). Aim: The study aimed to determine the association of NOTCH4 polymorphisms with the risk of SCZ in the North Indian population of the Jammu region. Methods: The single nucleotide polymorphism genotyping for NOTCH4 variant rs2071287 was done by Sanger's sequencing method, and the other variant rs3131296 was done by TaqMan assay method for 207 SCZ cases and 304 healthy controls of North Indian origin. Results: This association study suggested that the rs2071287 was found to be significantly associated with SCZ. Moreover, the GG genotype of rs2071287 was observed to be associated with a higher risk for SCZ (P-value = 6.45 × 10 - 5; OR = 1.71; 95% CI, 1.31-2.24). Conclusion: To establish the potential biomarker role of this variant, large-scale association analyses in other populations is required.

Cellulolytic Activity of Thermophilic Bacilli Isolated from Tattapani Hot Spring Sediment in North West Himalayas.

Eight thermophilic bacterial strains were isolated from Tattapani Hot spring and screened for various hydrolytic enzymes including cellulases. The isolated bacterial strains were identified as Geobacillus thermodenitrificans IP_WH1(KP842609), Bacillus licheniformis IP_WH2(KP842610), B. aerius IP_WH3(KP842611), B. licheniformis IP_WH4(KP842612), B. licheniformis IP_60Y(KP842613), G. thermodenitrificans IP_60A1(KP842614), Geobacillus sp. IP_60A2(KP842615) and Geobacillus sp. IP_80TP(KP842616) after 16S ribotying. Out of the eight isolates Geobacillus sp. IP_80TP grew best at 80 °C whereas rest of the isolates showed optimal growth at 60 °C. G. thermodenitrificans IP_WH1 produced a thermotolerant cellulase with maximum activity at 60 °C.