Genetic association studies have implicated the TSNAX/DISC1 (disrupted in schizophrenia 1) in schizophrenia (SCZ), bipolar affective disorder (BPAD) and major depression. This study was performed to assess the possible involvement of TSNAX/DISC1 locus in the aetiology of BPAD and SCZ in the Southern Indian population. We genotyped seven single nucleotide polymorphism (SNPs) from TSNAX/DISC1 region in 1252 individuals (419 BPAD patients, 408 SCZ patients and 425 controls). Binary logistic regression revealed a nominal association for rs821616 in DISC1 for BPAD and also combined cases of BPAD or SCZ, but after correcting for multiple testing, these results were non-significant. However, significant association was observed with BPAD, as well as combined cases of BPAD or SCZ, within the female subjects for the rs766288 after applying false discovery rate corrections at the 0.05 level. Two-locus analysis showed C-C (rs766288-rs2812393) as a risk combination in BPAD, and G-T (rs2812393-rs821616) as a protective combination in SCZ and combined cases of BPAD or SCZ. Female-specific associations were observed for rs766288-rs2812393, rs766288-rs821616 and rs8212393-rs821616 in two-locus analysis. Our results provide further evidence for sex-dependent effects of the TSNAX/DISC1 locus in the aetiology of SCZ and BPAD.
read moreBackground/Aims: To evaluate the ApoE gene polymorphismamong patients with dementia from southern India.Methods: Persons with dementia attending a geriatric clinicin a hospital setting located in southern India and matchedcontrols were recruited. All subjects were evaluated on standardassessments and were diagnosed according to the ICD-10; genotyping was done at the apolipoprotein E (ApoE) locus.Results: The study comprised 212 cases and 195 controls.The ApoE4 allele was significantly more prevalent indementia ( = 0.18 vs. = 0.07; p = 0.0018), especially in theAlzheimer’s disease subgroup (n = 137; = 0.21 vs. = 0.07;p ! 0.001), with a trend in vascular dementia subtype (n = 31; = 0.17 vs. = 0.07) in comparison with the control group.ApoE4 carrier status did not differ between the other dementiagroup (n = 44) and controls (p 1 0.20), or between theAlzheimer’s group and vascular dementia groups. Cognitive and functional deficits were not correlated to the presenceApoE4 polymorphism in the dementia group. Conclusion:The study confirmed the positive association of the ApoE4polymorphism in dementia, both in the Alzheimer’s and vascularetiology subgroups. Influence of this polymorphism onvarious clinical phenotypes, including extent of cognitiveand functional deficits, needs further evaluation.
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