Journal of Down Syndrome & Chromosome Abnormalities
Open Access
ISSN: 2472-1115
+44 1223 790975
ISSN: 2472-1115
+44 1223 790975
Arpita Dey
India
Research Article
Explorative Investigation on Thyroid Peroxidase and Sodium Iodide Symporter Gene Variants in Down Syndrome
Author(s): Arpita Dey, Atanu Maiti, Swagata Sinha and Kanchan MukhopadhyayArpita Dey, Atanu Maiti, Swagata Sinha and Kanchan Mukhopadhyay
Objective: Down syndrome (DS), the most common cause of intellectual disability, is frequently associated with thyroid malfunction. Normal thyroid function is essential for growth, neuronal development as well as cognition. Sodium iodide symporter (NIS) and thyroid peroxidase (TPO) are important enzymes for thyroid and to understand their role in DS, we investigated variants in these two genes in families with DS probands (N=183) and controls (N=222).Methods: Genomic DNA isolated from peripheral blood was analyzed by sequencing for genotyping of target sites. Data obtained was analyzed by population- and family-based statistical methods. SNP-SNP interactions were analyzed by Multifactor dimensionality reduction (MDR) test.Results: Out of twelve, only two (rs4808708 and rs4808709) functional SNPs in NIS and among eleven onl.. View More»
DOI:
10.4172/2472-1115.1000111