rs723744
This is a intron variant variant in the TTR gene.
▶Research that mentions this SNP (1)
▶An association study between the transthyretin (TTR) gene and mental retardationAssociationN=518Li J. et al.(2006)· European Archives of Psychiatry and Clinical Neuroscience
This association study of 518 Han Chinese children (98 with mental retardation, 109 borderline, 311 controls) from an iodine-deficient region investigated whether TTR gene variants influence susceptibility to mental retardation. Singular-locus analysis found no significant associations (all p > 0.05), but haplotype analysis identified a weak positive association between the CGTG+ haplotype (rs723744/G+6649C/T+6690C/rs2276382/del9) and mental retardation (χ² = 6.699, p = 0.035), though this was likely due to sampling error and low haplotype frequency.
About TTR
This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017]
View all TTR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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