Please use this identifier to cite or link to this item: http://hdl.handle.net/10603/198812
Title: An investigation into the polymorphisms of TSH R and TPO genes in patients with Thyroid disorder in Kashmir
Researcher: Mir, Gousia Qayoom
Guide(s): Ganai, Bashir Ahmad and Masoodi, Shariq Rashid
Keywords: Polymorphisms, TSH-R, TPO genes, SKIMS, Kashmir
Thyroid Gland, Thyroid Dysfunctions/Disorder,
Thyroid Stimulating Hormone (TSH), Thyroid Stimulating hormone Receptor (TSHR)
University: University of Kashmir
Completed Date: 2017
Abstract: Interactions between individual genetic and environmental factors determine the onset of thyroid disorders. The thyroid-stimulating hormone receptor (TSHR) gene is a convincing candidate gene, wherein the germline mutation has been reported to be associated with certain thyroid diseases. Thyroid peroxidase (TPO) is the key enzyme in the synthesis of thyroid hormones and its (TPO) mutation is one of the most common causes of thyroid dyshormonogenesis, characterized by iodide organification defects. The role of the TSHR and TPO genetic variants in thyroid disorders has not been well studied. This study investigated the possible relationship between the polymorphisms of TSHR gene codon D727E and codon T2229C of the TPO gene and thyroid disorders among the ethnic population of Kashmir. In this case-control study, 500 cases and 500 controls (a total of 446 males and 554 females), aged 16-70 years, were randomly selected from among the Kashmiri population. TSHR gene codon D727E and TPO gene codon T2229C SNPs were detected by PCR and RFLP using N1AIII and Eco57I as the restriction enzymes. Genotyping results were validated by sequencing 10 % of the samples. newlineand#967;2 and Fisher exact tests were used to test the allelic and genotypic associations of each SNP and to assess the association of various genotypes with different thyroid disorder types (hypothyroidism, hyperthyroidism, and goiter), gene-gene and gene-environment interactions. Hardy-Weinberg equilibrium of each SNP in the case and control individuals were also examined using a and#967;2 test. We analyzed non-parametric variables by Mann-Whitney U test. All tests were done using GraphPad InStat software (GraphPad InStat software, San Diego, CA). newlineStatistical analysis revealed that TSHR gene codon D727E variant genotypes (sum of C/G and G/G genotypes) was significantly associated with an increased risk of hypothyroidism (OR = 3.01; 95% CI = 2.011-4.53; P = lt 0.0001). However, no positive association of TSHR gene codon D727E polymorphism was observed for hyperthyroidism.......
Pagination: 
URI: http://hdl.handle.net/10603/198812
Appears in Departments:Department of Biochemistry

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02_certificate.pdf167.79 kBAdobe PDFView/Open
03_declaration.pdf178.05 kBAdobe PDFView/Open
04_acknowledgements.pdf210.69 kBAdobe PDFView/Open
05_ abbreviations.pdf152.1 kBAdobe PDFView/Open
06_contents.pdf642.34 kBAdobe PDFView/Open
07_list_of_figures.pdf97.09 kBAdobe PDFView/Open
08_list_of_tables.pdf106.7 kBAdobe PDFView/Open
09_abstract.pdf254.81 kBAdobe PDFView/Open
10_chapter1.pdf604.42 kBAdobe PDFView/Open
11_chapter2.pdf837.43 kBAdobe PDFView/Open
12_chapter3.pdf223.57 kBAdobe PDFView/Open
13_chapter4.pdf1.32 MBAdobe PDFView/Open
14_chapter5.pdf242.18 kBAdobe PDFView/Open
15_bibliography.pdf476.83 kBAdobe PDFView/Open
16_appendix.pdf268.08 kBAdobe PDFView/Open


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