Polygenic score
Influential genes:ABCG8,SERPINA1,LRBA,HNF4A,ABCG5
Variations in the ABCG8 gene have been associated with an increased risk of gallstone formation.
Some studies have suggested an association between certain variations in the SERPINA1 gene and an increased risk of gallstone development.
Genetic variations in the HNF4A gene have been associated with an increased risk of gallstone formation.
Gallstones are hard deposits in the gallbladder, which is a small pouch in the abdominal area located under the liver, responsible for storing bile - a fluid constantly produced by the liver that helps to digest lipids. Responding to signals, the gallbladder contracts and squeezes the bile through a system of ducts into the small intestine where digestion takes place. Substances in bile, such as cholesterol or bilirubin, can crystalize and form gallstones. Two types of gallstones are differentiated based on the precipitated substance - cholesterol stones (80%) and pigment stones from bilirubin. Patients are usually unaware of their gallstones, until they obstruct a bile duct, causing a bile build-up and resulting in severe pain in the right upper abdomen that can last several hours. Gallbladder attacks usually follow heavy meals and occur in the evening or during the night. One of the complications is an infection of the gallbladder, called cholecystitis. Treatment isn't required until symptoms develop, which then often results in a removal of the gallbladder that doesn't significantly influence a patient's quality of life.
Gallstones are a very common health condition that widely varies based on ethnicity, age, and geographic location. Studies have shown that gallstones are more prevalent in White and Native Americans in comparison with Eastern European, African American, and Japanese populations. The percentage of affected people can be as high as 60-70% in Native Americans and 10-15% in white adults in developed countries.[1] The prevalence increases by age in both men and women, mainly affecting individuals over 40 years old. They're very rare in children.
Risk factors for gallstones include:
Gallstone disease is an example of a multifactorial disease. Both genetic factors and environment play significant roles in their formation. Although research groups have identified multiple genes that may promote the formation and development of gallstones, twin studies have found that genetic factors account for approximately 25% of the risk. Corresponding genes are usually involved in cholesterol transport pathways.
Ongoing genetic studies and further research is needed for gaining deeper knowledge about the background of gallstones development.[3]
Genetic testing allows us to detect whether you have the predisposition to develop this disease. In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development.
Gallstones are asymptomatic as long as they don't cause an obstruction of the bile duct. Once they cause a bile build-up, patients experience severe sudden pain in the center of the abdomen or in the upper right abdomen, which can spread to the side or to a shoulder. They can feel nauseous and have fever or chills. If the obstruction lasts longer than a few hours (usually more than 5 hours), complications might develop. Symptoms of these complications might include jaundice, fever, vomiting, dark urine, and pale stools.
The diagnosis of gallstones is based on thorough anamnesis focused mainly on the patient’s symptoms, diet, and family history of gallstones. To confirm the disease, lab tests, and imaging methods are indicated. The lab tests focus mainly on signs of inflammation and assessing the function of the liver. Ultrasound is the preferred method in the diagnosis of gallstones, but CT or MRI scans can be used for more precise imaging.
Once the symptoms develop, it's necessary to contact a medical professional that will set up a treatment plan. Even though the attack can often resolve on its own, the probability of reappearance is very high and action should be taken. The usual treatment line is gallbladder removal, also called cholecystectomy. It's one of the most common surgeries overall, and it's a fast and relatively safe procedure. The gallbladder is not an essential organ, which means that the human body doesn't need it for sufficient function and the patient’s quality of life isn't affected. Patients may only experience changes in the structure and color of their stool. Surgeons mainly choose a laparoscopic approach, but open cholecystectomies are also performed in cases of severe inflammation or damaged tissue. If the surgery isn't possible (e.g. patient isn't stable enough for surgery), there are a few non-surgical options, such as medications containing bile acid or extracorporeal shock wave lithotripsy, in which shock waves try to break gallstones into smaller pieces.
Based on limited evidence, there are two main steps to prevent gallstones.
Most patients (more than 50%) are asymptomatic and will never develop any signs of gallstones. But if an attack is left untreated, the bile build-up can result in inflammation, which can proceed into necrosis of the whole gallbladder. About 1 to 2% of patients per year develop those complications. People with a history of gallstones have a higher risk for the development of gallbladder cancer. But the overall prognosis is excellent and most of the patients fully recover.[2]
Get the guidelines for a healthier and longer life. With Macromo tests, you'll learn your health risks and how to prevent them.
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