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From SNPedia

Geno Mag Summary
(C;C) 3 Combined with rs225014, risk of osteoarthritis and bipolar disorder
(C;T) 1.5 Combined with rs225014, risk of osteoarthritis and bipolar disorder
(T;T) 1 No increased risk of osteoarthritis or bipolar disorder
ReferenceGRCh38 38.1/141
GeneDIO2, DIO2-AS1
is asnp
is mentioned by
dbSNP (old)rs12885300
1000 genomesrs12885300
23andMe allrs12885300
SNP Nexus

GWAS Ctlgrs12885300
Max Magnitude3
? (C;C) (C;T) (T;T) 28
[PMID 19427350] Association of genetic polymorphisms in the type II deiodinase gene with bipolar disorder in a subset of Chinese population. 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)


[PMID 18334578OA-icon.png] 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)

[PMID 21400473] Osteoarthritis susceptibility genes influence the association between hip morphology and osteoarthritis. 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)

[PMID 22307573OA-icon.png] 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.

[PMID 21715540] The Type 2 Deiodinase ORFa-Gly3Asp Polymorphism (rs12885300) Influences the Set Point of the Hypothalamus-Pituitary-Thyroid Axis in Patients Treated for Differentiated Thyroid Carcinoma. 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:

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.

[PMID 18492748OA-icon.png] 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