An association study of dopaminergic (DRD2) and serotoninergic (5-HT2) gene polymorphism and schizophrenia in a North Indian population.

The aim of this study was to investigate whether single nucleotide polymorphisms (SNPs) in DRD2 and 5-HT2 receptor genes are associated with schizophrenia in North Indian population. Four hundred forty-three patients who met ICD10-DCR criteria for schizophrenia were enrolled from six participating centers along with 443 genetically related healthy subjects and 150 genetically unrelated healthy participants. A total of 7 gene polymorphisms from DRD2 (rs1800497, rs1079597, rs1800498, rs1801028) and 5-HT2 A (rs6313, rs6311, rs6305) were genotyped for their association with schizophrenia. No significant difference was found in frequency of various genotypes and alleles of the studied markers for DRD2 and 5-HT2 A genes between the cases and their genetic controls. However, significant differences were noted for rs1079597 genotype (Taq1B; p = 0.039) and its allele frequencies (p = 0.029) in persons with schizophrenia and the unrelated healthy controls. The DRD2 (Taq1 A-B-D) and 5-HT2 A (rs6311-rs6313-rs6305) haplotype frequencies differed significantly for A2B1D2 [p = 0.038; OR = 0.685 (95%CI = 0.479-0.981)] and ACC [p = 0.001; OR = 0.621 (95%CI = 0.461-0.838)] for the cases vs genetically related healthy controls. Similarly, significant difference was observed for the frequencies of GCC [p = 0.006; OR = 0.692 (95%CI = 0.532-0.900)] and ACC [p < 0.001; OR = 3.622 (95%CI = 1.73-7.585)] in the cases and unrelated healthy controls. Unlike previous research from India as well as abroad, the predominance of B1 allele of rs1079597 in patients with schizophrenia and absence of Cys311 in all study participants is a salient difference. Concluding, the B2 allele of rs1079597 may increase the risk of schizophrenia while the A2B1D2 haplotype may be protective in North Indian population.

Identification of genetic correlates of response to Risperidone: Findings of a multicentric schizophrenia study from India.

Risperidone is most commonly used as an antipsychotic in India for treatment of schizophrenia. However, the response to treatment with risperidone is affected by many factors, genetic factors being one of them. So, we attempted to evaluate the association between dopamine D2 (DRD2) receptor, serotonergic (5HT2A) receptor and CYP2D6 gene polymorphisms and response to treatment with risperidone in persons with schizophrenia from North India. It was a multicentric 12-weeks prospective study, undertaken in patients diagnosed with schizophrenia according to International Classification of Diseases 10th revision, Diagnostic Criteria for Research module (ICD-10 DCR). Patients were treated with incremental dosages of risperidone. Nine gene polymorphisms from three genes viz. DRD2, 5-HT2A and CYP2D6 along with socio-demographical and clinical variables were analyzed to ascertain the association in response to risperidone treatment. The change in the Positive and Negative Syndrome Scale (PANSS) was used to measure the outcome. Significant differences in the frequencies of single nucleotide proteins (SNPs) rs180498 (Taq1D) and rs 6305 (C516T) polymorphisms were found amongst the groups defined according to percent decline in PANSS. The CYP2D6*4 polymorphism differed significantly when drop outs were excluded from analysis. Presence of DRD2 Taq 1 D2D2 and 5-HT2A C516T CT genotypes in patients were more likely to be associated with non-response to risperidone. Ser311Cys (rs1801028) mutation was absent in the North Indian patients suffering from schizophrenia.

Dual diagnosis vs. triple diagnosis in HIV: a comparative study to evaluate the differences in psychopathology and suicidal risk in HIV positive male subjects.

INTRODUCTION: The problem of triple diagnosis of HIV, substance abuse and psychiatric disorders is a complex one with difficult solutions. HIV disease progression is affected by substance use as well as psychiatric illness burden due to both direct as well as indirect factors. Continuing substance abuse with poor drug adherence coexists with psychiatric disorders leading to increased morbidity and mortality. METHOD: A total of 100 HIV positive subjects comprising of two groups each having 50 subjects with and without substance abuse were assessed using detailed history, mental state examination, WHO schedule for clinical assessment in neuropsychiatry (SCAN 2.0) and Beck's Scale for Suicidal Ideation (BSS). Statistical analysis used Chi-Square test, Fischer's exact test, Student's t-test, Pearson's correlation coefficient, univariate and multiple regression analysis, univariate and multiple logistic regression analysis. p-Value<0.05 was considered to denote statistical significance. RESULTS: Subjects with substance use disorder had higher rates of psychiatric morbidity (52% vs. 24%, 95% CI=0.5200, p<0.05). The rate of antiretroviral therapy default was almost double in subjects with substance abuse, as compared to subjects without substance use. Suicidal risk was significantly increased (p<0.05) in subjects with co-morbid medical disorders but substance abuse did not increase the risk. CONCLUSION: Substance abuse inflicts a much greater burden on HIV positive individuals as compared to subjects without substance use. Concomitant substance abuse resulted in significantly increased duration of illness and psychiatric morbidity.

Ring chromosome 7 in an Indian woman.

BACKGROUND: Ring chromosome 7 [r(7)] is a rare cytogenetic aberration, with only 16 cases (including 3 females) reported in the literature to date. This is the first reported case of r(7) from India. METHOD: Clinical and cytogenetic investigations were carried out in an adult female with microcephaly and intellectual disability. RESULTS: Ring chromosome 7 was observed in 10% of the metaphases (46,XX,r(7)/46,XX). The clinical findings revealed microcephaly, growth delay, and dark pigmented naevi. CONCLUSION: The mosaicism for a chromosomal anomaly is an under-recognised cause of intellectual disability.

Classic ultra- rapid cycler bipolar disorder : a case report.

A 44 year old man presented with classical pattern of bipolar disorder with a fortnightly cycle of mania and depression for last many years. The patient was not responding to chronic lithium therapy but responded to a combination of carbamazepine and nifedipine.