Single nucleotide polymorphisms (SNPs) lead to genetic differences in breast cancer (BC) susceptibility among women from different ethnicities. The present study aimed at investigating the involvement of SNPs of three genes, including fibroblast growth factor receptor 2 (FGFR2), trinucleotide-repeat-containing 9 (TNRC9) and mitogen-activated protein kinase kinase kinase 1 (MAP3K1), as risk factors for the development of BC. A case‑control study (90‑100 cases; 90‑100 controls) was performed to evaluate five genetic variants of three genes, including FGFR2 (SNPs: rs1219648, rs2981582), TNRC9 (SNPs: rs8051542, rs3803662) and MAP3K1 (SNP: rs889312) as BC risk factors in Pakistani women. Significant associations were observed between BC risk and two SNPs of FGFR2 [rs2981582 (P=0.005), rs1219648 (P=9.08e‑006)] and one SNP of TNRC9 [rs3803662) (P=0.012)] in Pakistani women. On examining the different interactions of these SNPs with various clinicopathological characteristics, all three associated genetic variants, rs2981582 rs1219648 and rs3803662, exhibited a greater predisposition to sporadic, in comparison to familial, BC. Furthermore, there was an increased effect of BC risk between haplotype combinations of the two SNPs of FGFR2 (rs2981582 and rs1219648) in Pakistani women. The results of the present study suggest that variants of FGFR2 and TNRC9 may contribute to the genetic susceptibility of BC in Pakistani women.

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Schizophrenia is a psychiatric disorder and it is strongly inherited disease with a heritability of 80% or more. Rare genetic mutations are more frequent in schizophrenia patients. These genetic variations interfere with brain development and include hundreds of distinct genes. Transcription factor 4 (TCF4) has been emphasized as major players for disruption of brain development as well as function and consequently, the onset of schizophrenia. The dysregulation of TCF4 gene expression in brain affects the process of pre pulse inhibition (PPI) and consequently profound reduction in sensor motor gating that may results in to the onset of schizophrenia. Objective: To find out the genetic association of common variants of TCF4 gene conferring risk of schizophrenia. Methods: It was a case control study in which statistically significant number of blood samples of confirmed diagnosed schizophrenic patients as well as age matched healthy control subjects were analyzed to screen out selected Single Nucleotide Polymorphisms (rs9960767, rs4309482, rs12966547, and rs2958182) of TCF4 gene for their association with schizophrenia. Results: Out of these four SNPs rs9960767 and rs4309482 were significantly associated with schizophrenia. p-values for SNPs rs12966547 and rs2958182 were greater than 0.05 in both healthy controls and in patients. Conclusions: The results of this study offer compelling evidence for the link between particular TCF4 gene polymorphisms and schizophrenia. Two SNPs, rs9960767 and rs4309482, were found to have a strong correlation with schizophrenia in the research population, according to the analysis.