rs10917468 - MICOS10

Magnitude 4.5 · 1 study on file

Reported associations

• Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk. - American journal of human genetics (2011) · Teumer A, Rawal R, Homuth G, Ernst F, Heier M, Evert M, Dombrowski F, Völker U, Nauck M, Radke D, Ittermann T, Biffar R, Döring A, Gieger C, Klopp N, Wichmann HE, Wallaschofski H, Meisinger C, Völzke H · PubMed 21565293

  Thyroid disorders such as goiters represent important diseases, especially in iodine-deficient areas. Sibling studies have demonstrated that genetic factors substantially contribute to the interindividual variation of thyroid volume. We performed a genome-wide association study of this phenotype by analyzing a discovery cohort consisting of 3620 participants of the Study of Health in Pomerania (SHIP). Four genetic loci were associated with thyroid volume on a genome-wide level of significance. Of these, two independent loci are located upstream of and within CAPZB, which encodes the β subunit of the barbed-end F-actin binding protein that modulates actin polymerization, a process crucial in the colloid engulfment during thyroglobulin mobilization in the thyroid. The third locus marks FGF7

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