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

Kaur, Gurjit; Chavan, BS; Gupta, Dhiren; Sinhmar, Vikas; Prasad, Rajendra; Garg, Parshotam Dass; Gupta, Rajiv Kumar; Khurana, Hitesh; Margoob, Mushtaq Ahmed; Aneja, Jitender

doi:10.1016/j.ajp.2018.10.022

Cited by 15 publications

(10 citation statements)

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“…Taq1A polymorphism was very well studied in world's different populations [3,5,9,15,16] as well as in different Indian regions [17][18][19][20][21][22][23][24][25][26][27]. Various studies reported presence of A1 allele is significantly higher in certain drug of abuse such as alcoholism and other behavioural characteristics as well [28].…”

Section: Resultsmentioning

confidence: 99%

DRD2 TaqI A polymorphism in Eastern Uttar Pradesh population

Chaudhary

Yadav

Kumar

et al. 2019

Preprint

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Dopamine receptor D2 (DRD2) encoded by DRD2 gene, is located on chromosome 11q22-23. Dopamine plays the central role in motivation, cognition, and reward seeking behaviour. Its dysfunction is implicated in numerous neurological and psychiatric disorders including drug abuse, schizophrenia, ADHD etc. The TaqI A polymorphism is localized 9.8 kb downstream from DRD2 gene in exon 8 of protein kinase gene (ANKK1). It is a SNP demonstrated to cause Glutamate to Lysine substitution at 713 amino acid residue in putative binding domain of ANKK1. Due to the central role of dopamine in reward seeking behavior, DRD2 TaqI A loci is a suitable candidate for investigation of molecular basis of addiction.The aim of the present study is to evaluate the frequency of DRD2 TaqI A polymorphism in Eastern Uttar Pradesh population.3ml blood samples were collected from 50 individuals randomly selected from Eastern UP.Written informed consent along with profile detail was taken from each subject prior to blood sample collection. DRD2 TaqI A polymorphism analysis was done by PCR-RFLP method.Genomic DNA was extracted from each collected blood samples and amplified using DRD2 Taq1 region specific primers. PCR amplification produced 310bp long amplicon which was digested with Taq I enzyme for polymorphism analysis. In case of A2 allele, Taq1 enzyme cleaved 310bp long fragment into two fragments of 180bp and 130bp. In case of A1 allele, a C to T substitution demolished the restriction site of Taq1, so amplicon of A1 allele remained uncut. In total 50 sample analyzed in present study, A2/A2, A2/A1 and A1/A1 genotype were found in 12, 32 and 06 samples respectively. The genotypic frequencies of mutant homozygous (A1/A1) is 0.12, heterozygous (A2/A1) is 0.64 and normal homozygous (A2/A2) is 0.24. The allelic frequency of A1 is 0.44 and of A2 is 0.56. In conclusion, the results of present study suggests that in TaqI A polymorphism of DRD2 gene, the frequency of allele A2 is higher than that of A1 allele in population of Eastern Uttar Pradesh.

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Section: Resultsmentioning

confidence: 99%

DRD2 TaqI A polymorphism in Eastern Uttar Pradesh population

Chaudhary

Yadav

Kumar

et al. 2019

Preprint

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“…Multiple environmental and genetic risk factors have been reported to be associated with this disorder. Evidences for high heritability of the disease have also been reported in twin‐based and genetic linkage studies 3,4 . Unfortunately, in spite of lots of gathered data and evidences, exact cause of this debilitating illness is still mysterious 5 .…”

Section: Introductionmentioning

confidence: 98%

“…It has been reported that patients carrying Cys311 variant are less likely to be hospitalised, have lesser negative symptoms, shorter duration of hospitalisation and also respond better to antipsychotics 14 . However, some of the studies have reported positive association of this polymorphism with schizophrenia in various populations, 15,16 Further, few studies have also reported no association of this polymorphism with schizophrenia 4,11 …”

Section: Introductionmentioning

confidence: 99%

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Synonymous polymorphism rs201256011 in dopamine receptor type 2 gene is associated with schizophrenia and PANSS score in Pakistani population: A first report

et al. 2020

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Aim Variations of dopamine receptor type 2 (DRD2) are among the key factors involved in the pathology of schizophrenia. Presence of certain SNPs in DRD2 gene also amend patients’ response to antipsychotics. Keeping in view the genetic diversity among populations and important role of DRD2 polymorphisms in schizophrenia, we aimed to study two of its SNPs rs1801028 and rs6277 in patients with schizophrenia from Pakistan. Methods A total of 100 schizophrenia cases and 100 healthy controls were recruited. DNA was extracted from whole blood followed by PCR, Sanger sequencing and genotyping of two SNPs, that is, rs1801028 and rs6277. Results No association of rs1801028 and rs6277 was found with schizophrenia in Pakistani population (P > .05). Highlight of our study is the association of polymorphism rs201256011 with schizophrenia (P = .001), which is being reported for the first time. Significant association of rs201256011 was also found with Positive and Negative Syndrome Scale negative, cognitive and total score (P < .05). Conclusion In conclusion, genetic variants rs1801028 and rs6277 of DRD2 are not associated with schizophrenia in Pakistani population. While, previously unreported polymorphism rs201256011 have shown significant association with schizophrenia and its severity. A large scale multicentre replication study is required to confirm the association of this SNP with schizophrenia.

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“…(Parsons, D'Souza, Arranz, Kerwin, & Makoff, ) Furthermore, it was associated with eating disorder, although results vary in different populations (Trace et al, ). However, the T102C (rs6313) polymorphism of 5‐HTR2A gene, also known as ‐102C/T, is a substitution of cytosine for thiamine at position ‐102 in the exon 1; this silent variant has been associated in psychiatric disorders as schizophrenia, obsessive‐compulsive disorder (OCD), major depression, and impulsivity in Caucasian and Asian populations (Gonzalez‐Castro et al, ; Gray et al, ; Kaur et al, ; Ni et al, ; Sinopoli, Burton, Kronenberg, & Arnold, ). Nevertheless, up to the moment there are no association studies of 5‐HTR2A gene polymorphisms and eating disorders in Mexican population; therefore, we decided to analyze the association of rs6311 and rs6313 polymorphisms of 5‐HTR2A gene with eating disorders in this population, by (1) a case–control study, and (2) evaluating if the polymorphisms of 5‐HTR2A gene were associated with comorbidities in eating behavior.…”

Section: Introductionmentioning

confidence: 99%

Genetic association analysis of 5‐HTR2A gene variants in eating disorders in a Mexican population

et al. 2019

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Introduction The 5‐HTR2A gene has been implicated as candidate gene for eating disorders. The aim of the present study was to analyze the association of rs6311 and rs6313 polymorphisms of 5‐HTR2A gene with eating disorders in Mexican population, and to evaluate if the polymorphisms of 5‐HTR2A gene were associated with comorbidities in eating behavior. Methods We conducted a case–control analysis with 460 subjects. We included 168 patients with eating disorders and 292 controls; two polymorphisms of 5‐HTR2A gene were genotyped. We assessed the association by allele, genotype, and inheritance models. Psychiatric comorbidities were analyzed by genotype in patients with eating disorders. Results We found an association between rs6311 and eating disorders in a Mexican population by allele (OR = 8.09; 95% CI = 5.99–11.03; p = 2.2e‐16) and genotype (OR = 76.14; 95% CI = 35.61–177.18; p = 2.2e‐16). Individuals who carried GG genotype showed increased risk for suicide attempted (OR = 2.14; CI = 1.10–4.26; p = 0.035) as comorbidity associated with eating disorders. No positive associations were observed for rs6313 polymorphism. Conclusion Our results showed an association of rs6311 (A1438G) polymorphism of 5‐HTR2A gene with eating disorders, and these polymorphic variants could increase the risk of psychiatric comorbidities. However, more studies are required to replicate the results and to reach to a conclusive association between eating disorders and rs6311.

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

Cited by 15 publications

References 46 publications

DRD2 TaqI A polymorphism in Eastern Uttar Pradesh population

DRD2 TaqI A polymorphism in Eastern Uttar Pradesh population

Synonymous polymorphism rs201256011 in dopamine receptor type 2 gene is associated with schizophrenia and PANSS score in Pakistani population: A first report

Genetic association analysis of 5‐HTR2A gene variants in eating disorders in a Mexican population

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