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1.
Am J Transl Res ; 15(11): 6476-6485, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38074818

RESUMEN

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.

2.
Eur. j. psychiatry ; 36(2): 106-113, apr.-june 2022. tab, ilus, graf
Artículo en Inglés | IBECS | ID: ibc-203058

RESUMEN

Background and objective. Schizophrenia (SCZ) is a severe mental biological disorder with a multifactorial manner of transmission and inheritance associated with environmental, developmental, and genetic set-off. It is a heritable disorder that involves genes and metabolic mechanisms in a combined effect, each conferring a small increase in the overall disease burden. Its etiology is not fully understood, although recent studies showed a relationship between SCZ and inflammation. Evidence from various studies indicates that dysregulation of TLR genes may have a role in the physiopathology of schizophrenia. In the present study, 4 polymorphisms, each in TLR1, TLR2, TLR4, and TLR6, were studied to explore their role in susceptibility to SCZ in the Dogra population of the Jammu region. Methods . Five hundred (500) individuals including 200 SCZ and 300 healthy controls were included in the study. DNA was isolated and Sanger's sequencing was performed after PCR amplification. Results. Statistically significant association of TLR2 (rs3804099) was observed in the study population, the C allele of rs3804099 is associated with the increased risk for SCZ (OR=2.667; [1.4196–5.0093 at 95%CI] P = 0.0023). No statistically significant associations with SCZ were observed in the target population at TLR1, TLR4, and TLR6. Conclusion. Study concludes that TLR2 (rs3804099) may be associated with schizophrenia in the targeted population. Advance studies can be carried out focusing on finding potential SNPs for establishing a candidate gene approach.


Asunto(s)
Humanos , Ciencias de la Salud , Esquizofrenia , Receptor Toll-Like 2 , Receptor Toll-Like 1 , Receptor Toll-Like 4 , Receptor Toll-Like 6
3.
Indian J Psychiatry ; 64(6): 567-571, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36714673

RESUMEN

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.

4.
Indian J Microbiol ; 56(2): 228-231, 2016 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-27570317

RESUMEN

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.

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