The Allele Distribution for the rs7250346 SNP in SLC5A5 among Saudis
Keywords:SLC5A5 protein, human, Hypothyroidism, Polymorphism, Genetic
Background: The sodium/iodide cotransporter solute carrier family 5 member 5 (SLC5A5) is found in the basolateral cell membrane of thyroid follicular epithelial cells as a sodium iodide symporter. It helps in the secretion of triiodothyronine (T3) and tetraiodothyronine (T4). Polymorphisms in SLC5A5 result in hypothyroidism. The aim of the study is to estimate the frequency of rs7250346, a single nucleotide polymorphism (SNP) associated with thyroid disease, in a Saudi population and to compare it to other populations.
Methods: Two hundred and forty Saudi patients from King Faisal Specialist Hospital and Research Centre provided samples for the genetic analysis. Samples were genotyped for target SNPs by real time polymerase chain reaction (PCR), and the resultant rs7250346 frequency in the Saudi population was compared to other populations using HapMap.
Results: Out of the 240 Saudi samples, 64% had C genotype and 35% had G genotype in the rs7250346. Conclusion: The Saudi frequency of the rs7250346 SNP of SLC5A5 differs from that of European, Chinese, Japanese, or Sub-Saharan populations in HapMap (http://hapmap.org).
2. Carlson CS, Eberle MA, Rieder MJ, Yi Q, Kruglyak L, Nickerson DA. Se¬lecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet. 2004 Jan;74(1):106-20.
3. Carlson CS, Eberle MA, Kruglyak L, Nickerson DA. Mapping complex disease loci in whole-genome association studies. Nature. 2004 May 27;429(6990):446-52.
4. Di Bernardo J, Rhoden KJ. SLC5A5 (solute carrier family 5 (sodium iodide symporter), member 5) (19p13.11). Atlas Genet Cytogenet Oncol Haematol. 2010 June;14(6):581-7.
5. Smanik PA, Liu Q, Furminger TL, Ryu K, Xing S, Mazzaferri EL, et al. Cloning of the human sodium iodide symporter. Biochem Biophys Res Commun. 1996 Sep13;226(2):339-45.
6. Smanik PA, Ryu KY, Theil KS, Mazzaferri EL, Jhiang SM. Expression, exon-in¬tron organization, and chromosome mapping of the human sodium iodide symporter. Endocrinology. 1997 Aug;138(8):3555-8.
7. Dohán O, De la Vieja A, Paroder V, Riedel C, Artani M, Reed M, et al. The sodium/iodide symporter (NIS): characterization, regulation, and medical sig¬nificance. Endocr Rev. 2003 Feb;24(1):48-77.
8. Dohan O, Gavrielides MV, Ginter C, Amzel LM, Carrasco N. Na(+)/I(-) sym¬porter activity requires a small and uncharged amino acid residue at position 395. Mol Endocrinol. 2002 Aug;16(8):1893-902.
9. Matsuda A, Kosugi S. A homozygous missense mutation of the sodium/ iodide symporter gene causing iodide transport defect. J Clin Endocrinol Me¬tab. 1997 Dec;82(12):3966-71.
10. Fujiwara H, Tatsumi K, Miki K, Harada T, Okada S, Nose O, et al. Recurrent T354P mutation of the Na+/I- symporter in patients with iodide transport defect. J Clin Endocrinol Metab. 1998 Aug;83(8):2940-3.
11. Fujiwara H, Tatsumi K, Miki K, Harada T, Miyai K, Takai S, et al. Congenital hypothyroidism caused by a mutation in the Na+/I- symporter. Nat Genet. 1997 Jun;16(2):124-5.
12. Levy O, Ginter CS, De la Vieja A, Levy D, Carrasco N. Identification of
a structural requirement for thyroid Na+/I- symporter (NIS) function from analysis of a mutation that causes human congenital hypothyroidism. FEBS Lett. 1998 Jun 5;429(1):36-40.
13. Böttcher Y, Eszlinger M, Tönjes A, Paschke R. The genetics of euthyroid familial goiter. Trends Endocrinol Metab. 2005 Sep;16(7):314-9.
14. Konbel M, Medeiros-Neto G. An outline of inherited disorder of the thyroid hormone generating system. Thyroid. 2003 Aug;13(8):771-801.
15. Pohlenz J, Rosenthal IM, Weiss RE, Jhiang SM, Burant C, Refetoff S. Con¬genital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site. J Clin Invest. 1998 Mar1;101(5):1028-35.
16. Kosugi S, Sato Y, Matsuda A, Ohyama Y, Fujieda K, Inomata H, et al. High prevalence of T354P sodium/iodide symporter gene mutation in Japanese pa¬tients with iodide transport defect who have heterogeneous clinical pictures. J Clin Endocrinol Metab. 1998 Nov;83(11):4123-9.
17. Kosugi S, Okamoto H, Tamada A, Sanchez-Franco F. A novel peculiar mu¬tation in the sodium/iodide symporter gene in Spanish siblings with iodide transport defect. J Clin Endocrinol Metab. 2002 Aug;87(8):3830-6.
18. Al-Rasheed MM, Alzahrani AS, Macadam A, Overall A, Gard P, Dzimiri N. The potential role of the sodium symporter gene polymorphism in the de¬velopment of differentiated thyroid cancer. Gene. 2015 Nov 10;572(2):163-8.
19. Hussain F, Iqbal S, Mehmood A, Bazarbashi S, ElHassan T, Chaudhri N. In¬cidence of thyroid cancer in the Kingdom of Saudi Arabia, 2000-2010. Hematol Oncol Stem Cell Ther. 2013 Jun;6(2):58-64.
20. Malabu UH, Alfadda A, Sulimani RA, Al-Rubeaan KA, Al-Ruhaily AD, Fouda MA, et al. Graves' disease in Saudi Arabia: a ten-year hospital study. J Pak Med Assoc. 2008 Jun;58(6):302-4.
21. Grasberger H, Refetoff S. Genetic causes of congenital hypothyroidism due to dyshormonogenesis. Curr Opin Pediatr. 2011 Aug;23(4):421-8.
22. Xu YH, Qin YF, Zhao ZY. [Retrospective study on neonatal screening for congenital hypothyroidism and phenylketonuria in China in the past 22 years]. Zhonghua Er Ke Za Zhi. 2009 Jan;47(1):18-22.
23. Harris KB, Pass KA. Increase in congenital hypothyroidism in New York State and in the United States. Mol Genet Metab. 2007 Jul;91(3):268-77.
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