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rs180223

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 2 reduced risk of autoimmune thyroid disease (0.14x)
(G;T) 3.5 1.3x to 11.5x Increased risk of autoimmune thyroid disease
(T;T) 1.3 1.35x increased risk of autoimmune thyroid disease
ReferenceGRCh38 38.1/141
Chromosome8
Position132888007
GeneTG
is asnp
is mentioned by
dbSNPrs180223
dbSNP (old)rs180223
ClinGenrs180223
ebirs180223
HLIrs180223
Exacrs180223
Gnomadrs180223
Varsomers180223
Maprs180223
PheGenIrs180223
Biobankrs180223
1000 genomesrs180223
hgdprs180223
ensemblrs180223
gopubmedrs180223
geneviewrs180223
scholarrs180223
googlers180223
pharmgkbrs180223
gwascentralrs180223
openSNPrs180223
23andMers180223
23andMe allrs180223
SNP Nexus

SNPshotrs180223
SNPdbers180223
MSV3drs180223
GWAS Ctlgrs180223
GMAF0.36
Max Magnitude3.5
? (G;G) (G;T) (T;T) 28
[PMID 26099577OA-icon.png]A 2015 research study titled "Correlation between thyroglobulin gene polymorphisms and autoimmune thyroid disease" focused on the Han Chinese population. A total of 270 patients with AITD and 135 healthy controls were enrolled. They found "The Tg SNP frequency distribution was significantly different between Han populations of the Northern regions of Henan province and the Xi'an regions of Shaanxi province" (Abstract).
  • Separate ODs were found for the following TG gene SNPs:
    • E10SNP24 T/G rs180223 = TT 1.35, TG 11.50, GG 0.14, (TG OD was 95%CI = 4.89-27.06, p=<0.01)
    • E10SNP158 T/C rs2069550 = TT 1.07, TC 0.96, CC 1.03
    • E12SNP A/G rs853326 = AA 0.51, AG 0.23, GG 4.22 (GG OD was 95%CI = 2.65-6.73, p=<0.01)
    • E33SNP C/T rs2076740 = CC 1.11, CT 0.93, TT 0.98.
  • More significant combined ODs were received when these SNPs were were combined:
    • GTAC = 0.22 Hypothyroidism (HY), 0.22 Graves(GD), 0.24 Hashimoto's (HT)
    • GCGC = 0.57 HT
    • GTGC = 3.57 GD, 3.50 HT
    • TTGC = 4.00 HY
    • TCGC = 5.23 HY, 3.00 GD, 4.45 HT


[PMID 14657345OA-icon.png] This 2003 article titled "Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease" performed case control association studies for 14 TG SNPs in 285 Caucasian AITD patients and 150 Caucasian controls. They found that within the TG gene, "exon 10-12 SNP cluster and an exon 33 SNP were significantly associated with AITD."

  • Four polymorphisms, considered separately, had ODs over 1.3, but p values were not strong, between 0.003 and 0.12. (Supplementary tables 10,11,12)
  • However, they discovered more significant ODs and p values when combining one or more exon 10-12 SNP alleles with the CC homozygous exon 33 polymorphism:
    • with or without E10SNP24 T/G = rs180223 = T allele,
    • with or without E10SNP158 T/C = rs2069550 = T allele,
    • with or without E12SNP A/G = rs853326 = A allele,
    • always with E33SNP = rs2076740 = CC polymorphism
  • ODs for risk of AITD, GD and HT were given with the above risk alleles in combination (Table 2):
    • T,T,A,CC = 2.49 (p=0.0004);
    • T,--,--,CC = 2.42 (p=0.0005);
    • --,T,--,CC = 2.52 (p=0.0003);
    • --,--,A,CC = 2.43 (p=0.0004)
  • The ODs for risk of HT and GD were similar, all above 2.38 with p values equally or more significant. (Tables 3,4)
  • Adding significance for the exon 33 SNP in particular, they discovered "an interaction between HLA-DR3 and the exon 33 SNP, giving an odds ratio of 6.1 for Graves' disease."

However, one must keep in mind the small sample size of this study. In addition, this study focused on a Caucasian sample, while some other studies have focused on Chinese samples.


Venter snp
Source plos
Gene TG
allele G
frequency 0.466
sift TOLERATED
HuRef 1103652448042
Disease Association Defects in TG are a cause of some forms of goiter (MIM:188450). Goiter is an enlargement of the thyroid gland. This is sometimes linked to hypothyroidism.



OMIM188450
Desc
Variant0009
Relatedalso


ClinVar
Risk rs180223(A;A) rs180223(C;C) Rs180223(G;G)
Alt rs180223(A;A) rs180223(C;C) Rs180223(G;G)
Reference Rs180223(T;T)
Significance Other
Disease Autoimmune thyroid disease 3 not specified Thyroid dyshormonogenesis
Variation info
Gene TG
CLNDBN Autoimmune thyroid disease 3 not specified Thyroid dyshormonogenesis
Reversed 0
HGVS NC_000008.10:g.133900252T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013534.3, RCV000253912.1, RCV000309189.1,



GET Evidence
TG-S734A
aa_change Ser734Ala
aa_change_short S734A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.591653
summary