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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

Linkage disequilibrium block consists of rs4648317, rs7131056, and rs4936270.
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Figure 2: Linkage disequilibrium block consists of rs4648317, rs7131056, and rs4936270.

Mentions: In order to evaluate the LD block and haplotypes of the four tested SNPs, we used Haploview 4.2 program. In Fig. 2, a LD block was made among rs4648317, rs7131056, and rs4936270 SNPs in the control group (rs4648317 and rs7131056, D'=1, r2=0.528; rs7131056 and rs4936270, D'=1, r2=0.227; rs4648317 and rs4936270, D'=1, r2=0.120). We also investigated the association between the haplotypes and schizophrenia. As shown in Table 3, frequency in four haplotypes showed >0.1. The distribution of TCC, CAC, CAT, CCC haplotypes was 0.400, 0.275, 0.166, and 0.157, respectively. The CAT haplotype was weakly associated with the development of schizophrenia (p=0.039). In addition, the genotype frequencies of the four examined SNPs (rs4648317, rs1076562, rs4936270, and rs7131056) were compared to those of European and other East Asian populations. The genotype frequencies of three SNPs (rs4648317, rs1076562, and rs7131056) were similar to those of Japanese, whereas the genotype frequencies of rs4936270 were similar to those of European (Table 4).


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)

Linkage disequilibrium block consists of rs4648317, rs7131056, and rs4936270.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 2: Linkage disequilibrium block consists of rs4648317, rs7131056, and rs4936270.
Mentions: In order to evaluate the LD block and haplotypes of the four tested SNPs, we used Haploview 4.2 program. In Fig. 2, a LD block was made among rs4648317, rs7131056, and rs4936270 SNPs in the control group (rs4648317 and rs7131056, D'=1, r2=0.528; rs7131056 and rs4936270, D'=1, r2=0.227; rs4648317 and rs4936270, D'=1, r2=0.120). We also investigated the association between the haplotypes and schizophrenia. As shown in Table 3, frequency in four haplotypes showed >0.1. The distribution of TCC, CAC, CAT, CCC haplotypes was 0.400, 0.275, 0.166, and 0.157, respectively. The CAT haplotype was weakly associated with the development of schizophrenia (p=0.039). In addition, the genotype frequencies of the four examined SNPs (rs4648317, rs1076562, rs4936270, and rs7131056) were compared to those of European and other East Asian populations. The genotype frequencies of three SNPs (rs4648317, rs1076562, and rs7131056) were similar to those of Japanese, whereas the genotype frequencies of rs4936270 were similar to those of European (Table 4).

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