Prevalence of polymorphisms in the ANKK1, DRD2, DRD3 genes and metabolic syndrome in refractory schizophrenia

to estimate the prevalence of TaqIA, -141C and rs6280 polymorphisms of the ANKK1, DRD2 and DRD3 genes and evaluate their association with the occurrence of metabolic syndrome in patients with refractory schizophrenia.

Method:

cross-sectional study conducted in the Extended Western Region of Minas Gerais, with refractory schizophrenic patients using the antipsychotic clozapine. Sociodemographic, clinical, anthropometric, biochemical and genetic data were collected. Univariate analysis of the data was performed.

Results:

seventy-two patients participated in the study and the occurrence of Metabolic Syndrome was observed in 47.2% of them. There was no association between Metabolic Syndrome and the studied polymorphisms. There was a statistically significant difference in the low HDL parameter with homozygous genotype for the C allele of the -141C polymorphism of the DRD2 gene.

Conclusion:

a high prevalence of MS was evidenced. The -141C polymorphism was associated with low HDL. Genetic analysis and identification of metabolic alterations in this group of patients can guide drug treatment and provide a better quality of life.

Descriptors:
Nursing; Schizophrenia; Genetic Polymorphism; Metabolic X Syndrome; Clozapine; Health Profile

Authorship

Jeizziani Aparecida Ferreira Pinto

MSc in Nursing. MSc in Nursing.BrazilBrazil MSc in Nursing.

Pedro Henrique Batista de Freitas

MSc, in Nursing, RN, Family Health Strategy, Secretaria Municipal de Saúde, Divinópolis, MG, Brazil.Secretaria Municipal de SaúdeBrazilDivinópolis, MG, Brazil MSc, in Nursing, RN, Family Health Strategy, Secretaria Municipal de Saúde, Divinópolis, MG, Brazil.

Fernanda Daniela Dorneles Nunes

Graduated, MSc in Nursing, Graduate Program in Nursing, Universidade Federal de São João Del Rei, Divinópolis, MG, Brazil, Scientific Initiation Scholarship.Universidade Federal de São João Del ReiBrazilDivinópolis, MG, Brazil Graduated, MSc in Nursing, Graduate Program in Nursing, Universidade Federal de São João Del Rei, Divinópolis, MG, Brazil, Scientific Initiation Scholarship.

Paulo Afonso Granjeiro

PhD, Functional and Molecular Biology, Adjunct Professor, Pharmacy, Universidade Federal de São João Del Rei, Divinópolis, Minas Gerais, Brazil.Universidade Federal de São João Del ReiBrazilDivinópolis, Minas Gerais, Brazil PhD, Functional and Molecular Biology, Adjunct Professor, Pharmacy, Universidade Federal de São João Del Rei, Divinópolis, Minas Gerais, Brazil.

Luciana Lara dos Santos

PhD, Genetic, Adjunct Professor, Biological Sciences, Universidade Federal de São João Del Rei, Divinópolis, Minas Gerais, Brazil.Universidade Federal de São João Del ReiBrazilDivinópolis, Minas Gerais, Brazil PhD, Genetic, Adjunct Professor, Biological Sciences, Universidade Federal de São João Del Rei, Divinópolis, Minas Gerais, Brazil.

Richardson Miranda Machado

PhD, Psychiatry, Adjunct Professor, Nursing, Universidade Federal de São João Del Rei, Divinópolis, Minas Gerais, Brazil.Universidade Federal de São João Del ReiBrazilDivinópolis, Minas Gerais, Brazil PhD, Psychiatry, Adjunct Professor, Nursing, Universidade Federal de São João Del Rei, Divinópolis, Minas Gerais, Brazil.

Corresponding Author: Jeizziani Aparecida Ferreira Pinto Universidade Federal de São João Del Rei, Campus Dona Lindu Av. Sebastião Gonçalves Coelho, nº 400 Chanadour, Divinópolis, MG, Brasil 35504296 jeizzianiprof@gmail.com

SCIMAGO INSTITUTIONS RANKINGS

MSc in Nursing. MSc in Nursing.BrazilBrazil MSc in Nursing.

Tables

Tables (5)

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Table 1:
Prevalence of the analyzed polymorphisms (n = 72). Extended Western Region of Minas Gerais, MG, Brazil, 2015

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Table 2:
Analysis of association of polymorphisms in patients with and without metabolic syndrome* (n = 72). Extended Western Region of Minas Gerais, MG, Brazil, 2015

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Table 3:
Analysis of association of polymorphisms according to the metabolic syndrome component - Low HDL* (n = 72). Extended Western Region of Minas Gerais, MG, Brazil, 2015

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Table 4:
Analysis of association of polymorphisms according to the metabolic syndrome component - Hyperglycemia (n = 72). Extended Wester Region of Minas Gerais, MG, Brazil, 2015

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Table 5:
Odds Ratio Calculation* (OR) with respective 95%Confidence Interval (95% CI). Extended Western Region of Minas Gerais, MG, Brazil, 2015

Table 1: Prevalence of the analyzed polymorphisms (n = 72). Extended Western Region of Minas Gerais, MG, Brazil, 2015

	Percentage	N	p-value^*
TaqIA polymorphism
Genotypes
Homozygous for the C allele	51.4	37	0.0454
Heterozygous	41.7	30
Homozygous for the T allele	6.9	5
Alleles
C	72.2	104
T	28.0	40
-141C polymorphism
Genotypes
Homozygous for the Del C allele	68.1	49	0.0000
Heterozygous	25.0	18
Homozygous for the Ins C allele	6.9	5
Alleles
Del C	80.5	116
Ins C	19.4	28
rs6280 polymorphism
Genotypes
Homozygous for the C allele	23.6	17	0.0032
Heterozygous	41.7	30
Homozygous for the T allele	34.7	25
Alleles
C	55.5	80
T	44.4	64

N: observed frequencies * p-value: chi-square test

Table 2: Analysis of association of polymorphisms in patients with and without metabolic syndrome* (n = 72). Extended Western Region of Minas Gerais, MG, Brazil, 2015

Polymorphism	Without MS*		With MS*		p^†
	N	%	N	%
TaqIA genotypes
Homozygous for the C allele	21	55.3	16	47.1	0.708
Heterozygous	15	39.5	15	44.1
Homozygous for the T allele	2	5.3	3	8.8
TaqIA alleles
C	36	67.9	31	63.3	0.620
T	17	32.1	18	36.7
-141C genotypes
Homozygous for the Del C allele	25	65.8	24	70.6	0.184
Heterozygous	12	31.6	6	17.6
Homozygous for the Ins C allele	1	2.6	4	11.8
-141C alleles
Del C	37	74.0	30	75.0	0.914
Ins C	13	26.0	10	25.0
rs6280 genotypes
Homozygous for the T allele	16	42.1	9	26.5	0.311
Heterozygous	13	34.2	17	50.0
Homozygous for the C allele	9	23.7	8	23.5
rs6280 alleles
C	45	40.8	25	41.7	0.551
T	29	59.2	35	58.3

*Metabolic Syndrome †χ² Test; level of significance: p < 0.05.

Table 3: Analysis of association of polymorphisms according to the metabolic syndrome component - Low HDL* (n = 72). Extended Western Region of Minas Gerais, MG, Brazil, 2015

Polymorphism	Without low HDL*		With low HDL*		p†
	N	%	N	%
TaqIA genotypes
Homozygous for the C allele	30	52.6	7	46.7	0.901
Heterozygous	23	40.4	7	46.7
Homozygous for the T allele	4	7.0	1	6.7
TaqIA alleles
W	83	72.8	21	70.0	0.819
T	31	27.2	9	30.0
-141C genotypes
Homozygous for the Del C allele	38	66.7	11	73.3	0.032
Heterozygous	17	29.8	1	6.7
Homozygous for the Ins C allele	2	3.5	3	20.0
-141C alleles
Del C	93	81.6	23	76.7	0.545
Ins C	21	18.4	7	23.3
rs6280 genotypes
Homozygous for the T allele	20	35.1	5	33.3	0.952
Heterozygous	24	42.1	6	40.0
Homozygous for the C allele	13	22.8	4	26.7
rs6280 alleles
W	50	43.9	14	46.7	0.874
T	64	56.1	16	53.3

*High-Density Lipoprotein †χ² Test; level of significance: p < 0.05.

Table 4: Analysis of association of polymorphisms according to the metabolic syndrome component - Hyperglycemia (n = 72). Extended Wester Region of Minas Gerais, MG, Brazil, 2015

Polymorphism	Without Hyperglycemia		With Hyperglycemia		p^*
	N	%	N	%
TaqIA genotypes
Homozygous for C allele	15	62.5	22	45.8	0.084
Heterozygous	6	25.0	24	50.0
Homozygous for T allele	3	12.5	2	4.2
TaqIA alleles
W	36	75.0	68	70.8	0.554
T	12	25.0	28	29.2
-141C genotypes
Homozygous for C allele	15	62.5	34	70.8	0.098
Heterozygous	9	37.5	9	18.8
Homozygous for Ins C allele	0	0	5	10.4
-141C alleles
Del C	39	81.3	77	80.2	0.776
Ins C	9	18.8	19	19.8
rs6280 genotypes
Homozygous for T allele	13	54.2	12	25.0	0.040
Heterozygous	6	25.0	24	50.0
Homozygous for C allele	5	20.8	12	25.0
rs6280 alleles
W	16	33.3	48	50.0	0.021
T	32	66.7	48	50.0

*χ² Test; significance level: p <0.05.

Table 5: Odds Ratio Calculation* (OR) with respective 95%Confidence Interval (95% CI). Extended Western Region of Minas Gerais, MG, Brazil, 2015

	OR*	CI 95%^† for OR
		Low limit	Upper limit
-141C polymorphism	Low HDL
Genotypes
Heterozygous	1.00	-	-
Homozygous for the Ins C allele	19.8	1.51	701.1

* Odds Ratio †95% CI - 95% Confidence Interval.

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Métricas

Prevalence of polymorphisms in the ANKK1, DRD2, DRD3 genes and metabolic syndrome in refractory schizophrenia

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Mensagem

[1] Corresponding Author: Jeizziani Aparecida Ferreira Pinto Universidade Federal de São João Del Rei, Campus Dona Lindu Av. Sebastião Gonçalves Coelho, nº 400 Chanadour, Divinópolis, MG, Brasil 35504296 jeizzianiprof@gmail.com