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Assessment between Dopamine Receptor D2 (DRD2) Polymorphisms and Schizophrenia in Korean Population.

Cho AR, Lee SM, Kang WS, Kim SK, Chung JH - Clin Psychopharmacol Neurosci (2012)

Bottom Line: SNPAnalyzer, SNPStats, and Haploview version 4.2 programs were performed to analyze the genetic data.A linkage disequilibrium block consisted of rs4648317, rs7131056, and rs4936270.These results suggest that DRD2 SNPs may be associated with the development of schizophrenia in Korean population.

View Article: PubMed Central - PubMed

Affiliation: Department of Neuropsychiatry, Kyung Hee University, School of Medicine, Seoul, Korea.

ABSTRACT

Objective: The aim of this study was to investigate whether single nucleotide polymorphisms (SNPs) of dopamine receptor D2 (DRD2) are associated with schizophrenia in Korean population.

Methods: Four SNPs (rs4648317, rs7131056, rs4936270, and rs1076562) of DRD2 were selected and genotyped by direct sequencing in 197 schizophrenia patients and 370 control subjects. SNPAnalyzer, SNPStats, and Haploview version 4.2 programs were performed to analyze the genetic data. Multiple logistic regression models (codominant1, codominant2, dominant, recessive, overdominant, and log-additive) were used to evaluate the odds ratios (ORs), 95% confidence intervals (CIs), and p values. For multiple testing, p values (p(c)) were re-evaluated by Bonferroni's correction.

Results: The genotype frequency of DRD2 rs4936270 SNP was associated with the development of schizophrenia (p=0.0007, OR=1.71, 95% CI=1.16-2.52 in the codominant1 model; p=0.011, OR=1.63, 95% CI=1.12-2.37 in the dominant model; p=0.035, OR=1.41, 95% CI=1.03-1.95 in the log-additive model). The allele frequency of rs4936270 was also associated with the development of schizophrenia (p=0.024, OR=1.45, 95% CI=1.05-1.98). After Bonferroni's correction, the genotype distribution of rs4936270 was still related to the development of schizophrenia (p(c)=0.0028 in the codominant1 model; p(c)=0.044 in the dominant model). A linkage disequilibrium block consisted of rs4648317, rs7131056, and rs4936270. The CAT haplotype frequency was different between schizophrenia and controls (p=0.039).

Conclusion: These results suggest that DRD2 SNPs may be associated with the development of schizophrenia in Korean population.

No MeSH data available.


Related in: MedlinePlus

Gene map and location of single nucleotide polymorphisms (SNPs) in the DRD2 gene. Exons are marked with box. The coding regions are black boxes and untranslation regions are white boxes. Arrow indicates the location of each SNP.
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Figure 1: Gene map and location of single nucleotide polymorphisms (SNPs) in the DRD2 gene. Exons are marked with box. The coding regions are black boxes and untranslation regions are white boxes. Arrow indicates the location of each SNP.

Mentions: In this study, we focused on intronic SNPs (iSNPs) in the intron 1 region of DRD2: (1) we wanted to find out new SNPs related to schizophrenia susceptibility; (2) the methylation of CpG islands has been identified in the intron 1 of DRD2.16) We searched DRD2 SNPs in the NCBI websites (www.ensembl.org, www.broad.mit.edu/mpg/tagger, www.hapmap.org, and www.ncbi.nlm.nih.gov/ SNP, BUILD135). SNPs with <5% minor allele frequency, <10% heterozygosity, and monomorphic genotype in Asian populations were excluded. Finally, we selected four iSNPs (rs4648317, rs7131056, rs4936270, and rs1076562) (Fig. 1). Peripheral blood samples were collected in EDTA or heparin tubes from each subject. DNA was isolated using the DNA Isolation Kit for Cells and Tissues (Roche, Indianapolis, IN, USA) and the genotypes of four SNPs were determined by direct sequencing (MACROGEN, Seoul, Korea). Polymerase chain reactions (PCRs) using the sense and antisense primers of each SNP were conducted (Table 1). The PCR products were sequenced by an ABI PRISM 3730XL analyzer (PE Applied Biosystems, Foster City, CA, USA) and SeqManII software (DNASTAR, Madison, WI, USA) was used to analyze the sequencing data.


Assessment between Dopamine Receptor D2 (DRD2) Polymorphisms and Schizophrenia in Korean Population.

Cho AR, Lee SM, Kang WS, Kim SK, Chung JH - Clin Psychopharmacol Neurosci (2012)

Gene map and location of single nucleotide polymorphisms (SNPs) in the DRD2 gene. Exons are marked with box. The coding regions are black boxes and untranslation regions are white boxes. Arrow indicates the location of each SNP.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3569151&req=5

Figure 1: Gene map and location of single nucleotide polymorphisms (SNPs) in the DRD2 gene. Exons are marked with box. The coding regions are black boxes and untranslation regions are white boxes. Arrow indicates the location of each SNP.
Mentions: In this study, we focused on intronic SNPs (iSNPs) in the intron 1 region of DRD2: (1) we wanted to find out new SNPs related to schizophrenia susceptibility; (2) the methylation of CpG islands has been identified in the intron 1 of DRD2.16) We searched DRD2 SNPs in the NCBI websites (www.ensembl.org, www.broad.mit.edu/mpg/tagger, www.hapmap.org, and www.ncbi.nlm.nih.gov/ SNP, BUILD135). SNPs with <5% minor allele frequency, <10% heterozygosity, and monomorphic genotype in Asian populations were excluded. Finally, we selected four iSNPs (rs4648317, rs7131056, rs4936270, and rs1076562) (Fig. 1). Peripheral blood samples were collected in EDTA or heparin tubes from each subject. DNA was isolated using the DNA Isolation Kit for Cells and Tissues (Roche, Indianapolis, IN, USA) and the genotypes of four SNPs were determined by direct sequencing (MACROGEN, Seoul, Korea). Polymerase chain reactions (PCRs) using the sense and antisense primers of each SNP were conducted (Table 1). The PCR products were sequenced by an ABI PRISM 3730XL analyzer (PE Applied Biosystems, Foster City, CA, USA) and SeqManII software (DNASTAR, Madison, WI, USA) was used to analyze the sequencing data.

Bottom Line: SNPAnalyzer, SNPStats, and Haploview version 4.2 programs were performed to analyze the genetic data.A linkage disequilibrium block consisted of rs4648317, rs7131056, and rs4936270.These results suggest that DRD2 SNPs may be associated with the development of schizophrenia in Korean population.

View Article: PubMed Central - PubMed

Affiliation: Department of Neuropsychiatry, Kyung Hee University, School of Medicine, Seoul, Korea.

ABSTRACT

Objective: The aim of this study was to investigate whether single nucleotide polymorphisms (SNPs) of dopamine receptor D2 (DRD2) are associated with schizophrenia in Korean population.

Methods: Four SNPs (rs4648317, rs7131056, rs4936270, and rs1076562) of DRD2 were selected and genotyped by direct sequencing in 197 schizophrenia patients and 370 control subjects. SNPAnalyzer, SNPStats, and Haploview version 4.2 programs were performed to analyze the genetic data. Multiple logistic regression models (codominant1, codominant2, dominant, recessive, overdominant, and log-additive) were used to evaluate the odds ratios (ORs), 95% confidence intervals (CIs), and p values. For multiple testing, p values (p(c)) were re-evaluated by Bonferroni's correction.

Results: The genotype frequency of DRD2 rs4936270 SNP was associated with the development of schizophrenia (p=0.0007, OR=1.71, 95% CI=1.16-2.52 in the codominant1 model; p=0.011, OR=1.63, 95% CI=1.12-2.37 in the dominant model; p=0.035, OR=1.41, 95% CI=1.03-1.95 in the log-additive model). The allele frequency of rs4936270 was also associated with the development of schizophrenia (p=0.024, OR=1.45, 95% CI=1.05-1.98). After Bonferroni's correction, the genotype distribution of rs4936270 was still related to the development of schizophrenia (p(c)=0.0028 in the codominant1 model; p(c)=0.044 in the dominant model). A linkage disequilibrium block consisted of rs4648317, rs7131056, and rs4936270. The CAT haplotype frequency was different between schizophrenia and controls (p=0.039).

Conclusion: These results suggest that DRD2 SNPs may be associated with the development of schizophrenia in Korean population.

No MeSH data available.


Related in: MedlinePlus