MOUNTAIN VIEW, CA (April 6, 2012) Using its unique online research platform, 23andMe, a leading personal genetics company, has found five significant genetic associations for hypothyroidism in the largest known genome-wide association study of hypothyroidism conducted to date. The details of the study are now available online in the journal PLoS ONE.
"With nearly 90 percent of our 125,000 customers participating in our online research, 23andMe is making crowd-sourced science a reality," stated 23andMe CEO and co-founder Anne Wojcicki. "Our online research platform continues to advance research faster and more cost effectively than traditional research models," added Wojcicki.
Of the five significant associations reported in this study, three are known to be involved in other autoimmune diseases. These include rs6679677 near PTPN22, rs3184504 in SH2B3, and rs2517532 in the HLA class I region. The other two associations reported here are rs4915077 near VAV3 and rs925489 near FOXE1, a gene involved in thyroid development. In addition, 23andMe observed associations with two loci marginally associated with hypothyroidism that have been linked to Thyroid Stimulating Hormone (TSH) levels, PDE8B and CAPZB as well as another gene previously associated with hypothyroidism and autoimmune disease (CTLA4).
"These genetic associations contribute significantly to understanding the underlying biology of hypothyroidism, which impacts five percent of the general population," remarked 23andMe Medical Director and study co-author Dr. Uta Francke. "Identification of associations with other autoimmune disorders opens up potential pathways of treatment."
Upon identification of those novel genetic associations for hypothyroidism also associated with autoimmune diseases, the 23andMe research team looked for any additional single-nucleotide polymorphisms (SNPs) shared with other autoimmune diseases, investigating a list of 107 SNPs
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