|?|| (C;C) (C;T) (T;T) ||28|
Highest association to hypothyroidism in 23andMe cohort based [PMID 22493691], association found also in the first hypothyroidism GWAS [PMID 21981779]. It is 69kb upstream of the gene FOXE1 Forkhead Box E1 which is also known as TTF-2 Thyroid Transcription Factor 2, whose expression it affects according to the first study. In the more recent study, it had an odds ratio of 0.78 with a p-value of 2.4*10-19, meaning the minor allele C is protective. In the first study the C allele was also found associated with lower Serum thyroid-stimulating hormone levels, and homozygous CC allele potentially associated with Papillary Thyroid Cancer.
[PMID 24852370] Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations.
[PMID 22493691] Novel associations for hypothyroidism include known autoimmune risk Loci
[PMID 21981779] Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies.