Gallstones (Ferkingstad, 2018)

STUDY TITLE: Genome-wide association meta-analysis yields 20 loci associated with gallstone disease

SUMMARY: Discovery of 21 genomic regions associated with gallstone formation.

OVERVIEW: The gallbladder stores a fluid called bile. It releases bile into the intestines where it helps with digestion. Bile contains bile acids which are produced in the body from cholesterol. Gallstones are stones that can form in the gallbladder when there is too much cholesterol and not enough bile acids. The stones can cause pain in the upper right abdomen and may require surgery. To identify the genetic variants associated with gallstone formation, this genome-wide association study examined the genomes of over 750,000 individuals of European descent. The study identified 28 genomic regions associated with gallstone disease, 21 of which are novel. Some of these genetic variants have previously been linked to diabetes and fat metabolism.

DID YOU KNOW? According to the Guinness World Records, the most gallstones removed from a patient was ~24,000. In contrast, most patients who undergo surgery for gallstone disease have, on average, 2 to 20.

SAMPLE RESULTS: Learn more about the Nebula Research Library.

gallstone formation sample results

GALLSTONE-ASSOCIATED VARIANTS: rs11887534, rs212100, rs12633863, rs4148808, rs2291428, rs2290846, rs1800961, rs6471717, rs601338, rs686030, rs756082276, rs28929474, rs1260326, rs34851490, rs1169288, rs756935975, rs13280055, rs56398830, rs174567, rs708686, rs11012737, rs1935, rs2469991, rs17240268, rs2070959, rs12004, rs55971546, rs11641445, rs17138478, rs45575636, rs2292553, rs12968116

Gallstones (Video)
Gallstone disease

WEEKLY UPDATE: April 28, 2020