alexa Explorative Investigation on Thyroid Peroxidase and Sodium Iodide Symporter Gene Variants in Down Syndrome
ISSN: 2472-1115

Journal of Down Syndrome & Chromosome Abnormalities
Open Access

Like us on:
OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations

700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

Research Article

Explorative Investigation on Thyroid Peroxidase and Sodium Iodide Symporter Gene Variants in Down Syndrome

Arpita Dey1, Atanu Maiti1, Swagata Sinha2and Kanchan Mukhopadhyay1*

1Biomedical Research and Diagnostic Centre, Manovikas Kendra, Kolkata, India

2Department of Psychiatry, Manovikas Kendra, Kolkata, India

*Corresponding Author:
Kanchan Mukhopadhyay
Biomedical Research and Diagnostic Centre
Manovikas Kendra, 482, Madudah
Plot I-24, Sec.-J, E.M. Bypass
Kolkata - 700107, India
Tel: 91-033-4001-9179
E-mail: [email protected]

Received date: June 28, 2016; Accepted date: July 05, 2016; Published date: July 12, 2016

Citation: Dey A, Maiti A, Sinha S, Mukhopadhyay K (2016) Explorative Investigation on Thyroid Peroxidase and Sodium Iodide Symporter Gene Variants in Down Syndrome. J Down Syndr Chr Abnorm 2: 111. doi:10.4172/2472-1115.1000111

Copyright: © 2016 Dey A, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited



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 only one SNP, rs1126799 in TPO were polymorphic. Case-control analysis failed to show any statistically significant difference. Family-based analysis revealed significant over transmission of rs1126799 ‘C’ allele to probands. MDR analysis showed synergistic effect of rs1126799 with both rs4808708 and rs4808709. rs4808708 and rs4808709 showed redundancy amongst themselves. Conclusion: This pioneering association study on TPO and NIS gene variants in DS subjects showed synergistic interaction between the SNPs, in absence of any independent contribution, and together may regulate thyroid hormone metabolism.

Share This Page

Additional Info

Loading Please wait..
Peer Reviewed Journals
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

Agri, Food, Aqua and Veterinary Science Journals

Dr. Krish

[email protected]

1-702-714-7001 Extn: 9040

Clinical and Biochemistry Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Business & Management Journals


[email protected]

1-702-714-7001Extn: 9042

Chemical Engineering and Chemistry Journals

Gabriel Shaw

[email protected]

1-702-714-7001 Extn: 9040

Earth & Environmental Sciences

Katie Wilson

[email protected]

1-702-714-7001Extn: 9042

Engineering Journals

James Franklin

[email protected]

1-702-714-7001Extn: 9042

General Science and Health care Journals

Andrea Jason

[email protected]

1-702-714-7001Extn: 9043

Genetics and Molecular Biology Journals

Anna Melissa

[email protected]

1-702-714-7001 Extn: 9006

Immunology & Microbiology Journals

David Gorantl

[email protected]

1-702-714-7001Extn: 9014

Informatics Journals

Stephanie Skinner

[email protected]

1-702-714-7001Extn: 9039

Material Sciences Journals

Rachle Green

[email protected]

1-702-714-7001Extn: 9039

Mathematics and Physics Journals

Jim Willison

[email protected]

1-702-714-7001 Extn: 9042

Medical Journals

Nimmi Anna

[email protected]

1-702-714-7001 Extn: 9038

Neuroscience & Psychology Journals

Nathan T

[email protected]

1-702-714-7001Extn: 9041

Pharmaceutical Sciences Journals

John Behannon

[email protected]

1-702-714-7001Extn: 9007

Social & Political Science Journals

Steve Harry

[email protected]

1-702-714-7001 Extn: 9042

© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version