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Initial screening of the rs104893657 variant of the PAX8 gene in women with hypothyroidism from Northeastern Slovakia
M. Mydlárová Blaščáková, B. Homjáková, M. Nagy, J. Poráčová, Z. Lörinczová, P. Makovický, T. Kimáková, V. Sedlák, M. Konečná
Language English Country Czech Republic
Document type Journal Article
Digital library NLK
Source
NLK
Free Medical Journals
from 2004
ProQuest Central
from 2009-03-01 to 6 months ago
Medline Complete (EBSCOhost)
from 2006-03-01 to 6 months ago
Nursing & Allied Health Database (ProQuest)
from 2009-03-01 to 6 months ago
Health & Medicine (ProQuest)
from 2009-03-01 to 6 months ago
Public Health Database (ProQuest)
from 2009-03-01 to 6 months ago
ROAD: Directory of Open Access Scholarly Resources
from 1993
PubMed
38272482
DOI
10.21101/cejph.a7842
Knihovny.cz E-resources
- MeSH
- Genotype MeSH
- Hypothyroidism * epidemiology genetics MeSH
- Humans MeSH
- Polymorphism, Genetic MeSH
- Thyrotropin genetics MeSH
- PAX8 Transcription Factor genetics MeSH
- Check Tag
- Humans MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Geographicals
- Slovakia MeSH
OBJECTIVE: Thyroid diseases are among the most common endocrinopathies and metabolic disorders. Hypothyroidism is caused by insufficient production of thyroid hormones with a higher prevalence in women. Causes for the development of endocrine diseases may be mutations in genes that encode peptide hormones. The aim of this scientific study was to determine the genotype and allele frequencies of the rs104893657 variant of the PAX8 gene and to determine the genotype versus phenotype association. METHODS: The study population consisted of 135 women from northeastern Slovakia who were divided on the basis of screening into two groups: a control group without diagnosed hypothyroidism (CG = 67) and a group of women with hypothyroidism (HY = 68). Biochemical markers - thyroid-stimulating hormone (TSH), prealbumin (PREA), calcium (Ca), phosphorus (P), and alkaline phosphatase (ALP) were determined using Cobas Integra 400 plus, Cobas e411 analysers (Roche). Genotyping was performed using TaqMan® SNP Genotyping Assay instrument 7500 Fast Real-Time PCR Systems (Applied Biosystem). RESULTS: Student's t-test revealed a statistically significant difference between CG and HY in biochemical parameters: TSH (p < 0.001), P (p = 0.008). By Chi-square test we found no statistically significant difference in the representation of genotypes (p = 0.788) in the rs104893657 polymorphism of PAX8 gene. The T allele was not associated with hypothyroidism in Slovak women (p = 0.548). In CC genotype we found statistically significant difference between CG and HY in parameters TSH (p < 0.001) and P (p = 0.006). CONCLUSION: The mutant T allele was detected at low frequency in both groups of women studied. The association of the T allele with the development of hypothyroidism in Slovak women was not confirmed. The results of this work provide initial information on the distribution of genotypes and alleles in the studied variant of PAX8 gene in the Slovak female population.
AGEL Hospital Kosice Saca Kosice Slovak Republic
Department of Biology Faculty of Education J Selye University Komarno Slovak Republic
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- $a OBJECTIVE: Thyroid diseases are among the most common endocrinopathies and metabolic disorders. Hypothyroidism is caused by insufficient production of thyroid hormones with a higher prevalence in women. Causes for the development of endocrine diseases may be mutations in genes that encode peptide hormones. The aim of this scientific study was to determine the genotype and allele frequencies of the rs104893657 variant of the PAX8 gene and to determine the genotype versus phenotype association. METHODS: The study population consisted of 135 women from northeastern Slovakia who were divided on the basis of screening into two groups: a control group without diagnosed hypothyroidism (CG = 67) and a group of women with hypothyroidism (HY = 68). Biochemical markers - thyroid-stimulating hormone (TSH), prealbumin (PREA), calcium (Ca), phosphorus (P), and alkaline phosphatase (ALP) were determined using Cobas Integra 400 plus, Cobas e411 analysers (Roche). Genotyping was performed using TaqMan® SNP Genotyping Assay instrument 7500 Fast Real-Time PCR Systems (Applied Biosystem). RESULTS: Student's t-test revealed a statistically significant difference between CG and HY in biochemical parameters: TSH (p < 0.001), P (p = 0.008). By Chi-square test we found no statistically significant difference in the representation of genotypes (p = 0.788) in the rs104893657 polymorphism of PAX8 gene. The T allele was not associated with hypothyroidism in Slovak women (p = 0.548). In CC genotype we found statistically significant difference between CG and HY in parameters TSH (p < 0.001) and P (p = 0.006). CONCLUSION: The mutant T allele was detected at low frequency in both groups of women studied. The association of the T allele with the development of hypothyroidism in Slovak women was not confirmed. The results of this work provide initial information on the distribution of genotypes and alleles in the studied variant of PAX8 gene in the Slovak female population.
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