23andMe identifies 5 significant genetic associations for hypothyroidism

April 9, 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 . 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 that have been linked to (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 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 that were studied across seven autoimmune diseases. Among this list, only the CTLA4, PTPN22, and SH2B3 loci show significant association with hypothyroidism.

According to 23andMe Principle Scientist and Lead Author Nicholas Eriksson, Ph.D., "These findings shed new light on the biology of hypothyroidism, showing that genes involved with both thyroid function and immune response impact this disease. This demonstrates our ability to harness the power of the enormous 23andMe genetic database to further medical research.

This study investigated 3,736 individuals with hypothyroidism as well as 35,546 controls, all drawn from the more than 100,000 23andMe customers who have consented to participate in research efforts. Cases included individuals who have been diagnosed with hypothyroidism, have elevated TSH levels, or are taking thyroid hormone replacement medication.

These results continue to validate 23andMe's methodology in combining self-reported data on phenotypes gathered via web-based questionnaires and genotypic data derived from self-collected saliva samples. had previously published its first proof-of-concept results in the journal PLoS Genetics in June 2010 which reported novel associations for unusual traits such as asparagus anosmia and photic sneeze reflex and replicated associations for other common genetic traits, and recently published the discovery of two novel genetic associations for Parkinson's disease in PLoS Genetics, and presented a major replication study of over 180 in the journal in August 2011.

Explore further: 23andMe identifies two novel genetic associations and substantial genetic component for Parkinson's

Related Stories

23andMe identifies two novel genetic associations and substantial genetic component for Parkinson's

June 24, 2011
Today 23andMe, an industry leader in personal genetics, announced the discovery of two significant, novel genetic associations with Parkinson's disease (PD) and provided new evidence that there is a substantial genetic component ...

BMC conducts high rates of thyroid testing in pregnant women, study finds

June 30, 2011
A recent study completed by researchers from Boston University School of Medicine (BUSM) and Boston Medical Center (BMC) demonstrates that BMC conducts a high rate of thyroid function testing in pregnant women. The retrospective ...

Recommended for you

A piece of the puzzle: Eight autism-related mutations in one gene

September 19, 2017
Scientists have identified a hotspot for autism-related mutations in a single gene.

Scientists identify key regulator of male fertility

September 19, 2017
When it comes to male reproductive fertility, timing is everything. Now scientists are finding new details on how disruption of this timing may contribute to male infertility or congenital illness.

New assay leads to step toward gene therapy for deaf patients

September 18, 2017
Scientists at Oregon State University have taken an important step toward gene therapy for deaf patients by developing a way to better study a large protein essential for hearing and finding a truncated version of it.

Biologists identify gene involved in kidney-related birth defects

September 18, 2017
A team led by University of Iowa researchers has identified a gene linked to rare, often fatal kidney-related birth defects.

Genomic recycling: Ancestral genes take on new roles

September 18, 2017
One often hears about the multitude of genes we have in common with chimps, birds or other living creatures, but such comparisons are sometimes misleading. The shared percentage usually refers only to genes that encode instructions ...

A new approach to high insulin levels

September 18, 2017
Diabetes is characterised by a deficiency of insulin. Its opposite is a condition called congenital hyperinsulinism—patients produce the hormone too frequently and in excessive quantities, even if they haven't eaten any ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.