Chromosomal region 1q24.1 is associated with increased risk of schizophrenia in Pakistani population

Abstract

Schizophrenia is a stressful, chronic and in many cases incorrigible psychological disorder. Till now no biomarker is available for diagnosis of this condition and diagnosis is done purely on psychiatric bases. A strong genetic association of human genome region 1q24.1 is implicated with onset of schizophrenia in many studies. Present study is first from Pakistan to report effect of this locus in transmission and liaison of schizophrenia in Pakistani population. For this analysis 300 samples were genotyped of four SNPs, rs1417584, rs1954175, rs821616 and rs113012343 that were selected on basis of minor allele frequency and effects on schizophrenia. Haplotype and transmission disequilibrium analysis was also performed on data. Association of SNPs revealed a significant relation between MAF of rs1417584 and schizophrenia in given samples (χ² 5.57; p 0.02). Haplotype association led to formation of three significant blocks TCAG (OR 20.06), TTAG (OR 4.65) and CCTG (OR 26.17) for rs1417584, rs1954175, rs821616 and rs113012343 that were expected to cause schizophrenia in said combinations. rs1417584, rs1954175 and rs821616 were found to be in a linkage block based on D' value (p < 0.0001) with 22% co inheritance alongside disease onset. This block was represented by 325 kb on chromosome 1. It is concluded from this study that this 325 Kb region can be considered prognostic marker for schizophrenia development in Pakistani population.

Keywords: Disrupted in Schizophrenia; Haplotype; Inheritance; Linkage; Minor allele; Schizophrenia.