rs12885300

. Published 2009. This study analyzed polymorphisms of SNPs rs12885300 (called "(ORFa)-Gly3Asp") and rs225014 (called "Thr92Ala") in relation to DIO2 gene activity in BPAD (Bipolar disorder) patients in China. Findings in abstract: "Both SNPs were significantly higher in the BPAD patients, with odds ratios of 1.489 ... and 1.616 ... respectively. Individuals with two copies of the variant 3Gly or 92Ala were at greater risk of BPAD.... Haplotypes ORFa-3Asp-92Ala and ORFa-3Gly-92Ala indicated higher susceptibility for BPAD with odds ratios of 3.759 (95% CI=2.013-7.020) and 1.292 (95% CI=1.017-1.642), respectively, while ORFa-3Asp-92Thr probably played a protective role with an odds ratio of 0.395 (95% CI=0.284-0.549)." (Abstract) . A 2008 article titled "Identification of DIO2 as a new susceptibility locus for symptomatic osteoarthritis" explained that "Confirmation and replication by association in the additional osteoarthritis studies indicated a common DIO2 haplotype, exclusively containing the minor allele of rs225014 and common allele of rs12885300, with a combined recessive odds ratio of 1.79, 95% confidence interval (CI) 1.37-2.34 with P = 2.02 x 10(-5) in female cases with advanced/symptomatic hip osteoarthritis." (Abstract) . This 2011 study examined various shapes of hip joints in relation to osteoarthritis (OA) risk alleles. They "observed a significant interaction between carrier status of DIO2 rs12885300 and hip OA characteristics for mode 1 (shown in Figure 1) (P = 0.005). ... This specific aspect of hip shape correlates with OA characteristics only in carriers of the susceptibility allele." (Abstract) The -258A/G (SNP rs12885300) polymorphism of the human type 2 deiodinase gene is associated with a shift in the pattern of secretion of thyroid hormones following a TRH-induced acute rise in TSH. . After thyroidectomy, high doses of L-T4 are used to suppress TSH. Since no T3 is being produced by the thyroid, the body depends on D1 and D2 enzymes to convert T4 into the active T3. This study collected 1905 serum samples from 151 patients over 8.8 to 11.5 years and analyzed four SNPs: *DIO1-rs11206244 (D1-C785T) *DIO1-rs12095080 (D1-A1814G) *DIO2-rs225014 (D2-Thr92Ala) *DIO2-rs12885300 (D2-ORFa-Gly3Asp). Their data "suggest that the negative feedback of FT(4) on TSH is weaker in patients homozygous for the D2-rs12885300 T allele than in wild-type and heterozygous subjects." These patients "have an altered set point of the hypothalamus-pituitary-thyroid axis." However, they noted that their data depended on TSH and T4 levels alone, since T3 and rT3 were measured at only one time point during the study. A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine. (Published 2008). Attempted to study rs12885300 but this SNP failed quality control due to duplicate errors and deviation from Hardy-Weinberg equilibrium. The study found significant effects with variants of another DIO1 SNP, rs2235544. See further discussion of this DIO2 gene's other SNP : rs225014

C;C

See text at rs12885300. Note: Confirm whether risk allele is C for this SNP.

C;T

See text at rs12885300.