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GENETIC POLYMORPHISM IN NRG1 SNPrs35753505 GENE IS ASSOCIATED WITH SCHIZOPHRENIA IN PAKISTANI PATIENTS

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Author(s): NAWAZ R. | ASIF H. | KHAN A. | ISHTIAQ H. | SHAD F.K. | SIDDIQUI S.

Journal: International Journal of Genetics
ISSN 0975-2862

Volume: 5;
Issue: 2;
Start page: 142;
Date: 2013;
Original page

Keywords: NRG1 | Schizophrenia | HWE | SNP | Allele | DNA | frequencies | Guanine (G) | Adenine (A).

ABSTRACT
Neuregulin 1 (NRG1) gene has been associated with schizophrenia in several populations and appears to express all four types of NRG1 gene with many functions relevant to neurodevelopment, and neurotransmitter activity. In current study we attempted to examine the association of three genetic variants SNPs: rs3924999 rs2954041and rs35753505 of NRG1 gene with schizophrenia in Pakistani population. Genomic DNA samples were obtained from the blood of 100 patients and 80 matched controls. SNPs rs3924999, rs2954041 and rs35753505 were genotyped by PCR-RFLP method and further confirmed by DNA sequencing. The SNPs frequencies were estimated by Hardy-Weinberg Equilibrium (HWE) and Chi-Square tests. Our study found significant association of rs35753505 with schizophrenia but no association with rs3924999 and rs2954041 in Schizophrenic patients from Pakistan. The frequency of risk allele C was significantly higher (62.5%) in rs35753505 patients when compared to controls (28.13%). Genotype frequency by HWE for SNPrs3924999 in patient was GG 77.4%, GA 21.12% and AA 1.44% and shows no association with the disease. Similarly no genotype association was observed in rs2954041: GG 92.98%, GT 6.89%, TT 0.13% of NRG1. However, one unexpected G allele was found to be present in SNP rs35753505 in Pakistani population (both in patients and control) 100% Guanine (G) with no Adenine (A). This is very interesting finding that Pakistani population show allele G peak in electropherogram and no allele A peak in patients nor in controls. Our results suggest that SNPs rs35753505 of NRG1 play a significant role in conferring susceptibility to the disease in Pakistani Population.
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