17Jul 2017

AN INVESTIGATION INTO THE POLYMORPHISM OF TPO GENE AND ITS ASSOCIATION WITH HYPOTHYROIDISM IN KASHMIRI POPULATION.

  • Department of Biochemistry, University of Kashmir, Hazratbal, Srinagar, India.
  • Center of Research for Development (CORD), University of Kashmir, Hazratbal, Srinagar, India.
  • Sheri Kashmir Institute of Medical Sciences (SKIMS), Srinagar.
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TPO gene is pivotal for the normal functioning of the thyroid gland. A mutation in this gene is associated with several disorders of thyroid hormonogenesis including hypothyroidism. In this study, we investigated the role of TPO codon T2229C genetic variants in hypothyroidism. Blood samples were taken from a total of 445 participants (220 cases and 225 healthy subjects), aged 16-70 years, which were randomly selected from among the Kashmiri population. All the necessary information on the thyroid disease and other lifestyle and environmental exposure were gathered by questionnaire and the patient's endocrinologist or general practitioner verified the diagnosis. The polymorphism of the codon T2229C of the TPO gene was identified by polymerase chain reaction-based restriction analysis and direct sequencing. Statistical analysis suggested a single nucleotide polymorphism that is a C-to-T substitution at codon 2229 of the TPO gene. The frequency of its variant genotype T (combined CT and TT genotype) as noted in cases was associated with a borderline increased risk of hypothyroidism (OR = 1.62; 95% CI = 1.07-2.43; P = 0.02) as compared to healthy subjects. Our study also observed a positive association of the TPO gene polymorphism with certain environmental exposures, lifestyle changes, smoking habits and in subjects with high basal metabolic Index (BMI). This observation suggests a possible role of this polymorphism in the etiology of hypothyroidism in Kashmir.

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[Gousia Qayoom Mir, Bashir Ahmad Ganai, Shariq Rashid Masoodi, Shagufta Sheikh and Akbar Masood. (2017); AN INVESTIGATION INTO THE POLYMORPHISM OF TPO GENE AND ITS ASSOCIATION WITH HYPOTHYROIDISM IN KASHMIRI POPULATION. Int. J. of Adv. Res. 5 (Jul). 734-742] (ISSN 2320-5407). www.journalijar.com

Bashir Ahmad Ganai
2Center of Research for Development (CORD), University of Kashmir, Hazratbal, Srinagar, India

DOI:

Article DOI: 10.21474/IJAR01/4774      
DOI URL: http://dx.doi.org/10.21474/IJAR01/4774

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