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Understanding Your ABCG8 Result and Gallstone Risk

Gallstones are hard deposits that form in the gallbladder when bile becomes oversaturated with cholesterol, leading to crystal formation and stone development. The ABCG8 gene plays a key role in how cholesterol is transported from liver and intestinal cells into bile. Certain variations in ABCG8 can increase cholesterol secretion into bile, making bile more likely to form cholesterol crystals and, over time, gallstones.

How the ABCG8 Variant Affects Cholesterol in Bile

The ABCG8 protein partners with ABCG5 to move cholesterol out of liver and intestinal cells and into bile. When cholesterol secretion into bile is higher than normal, bile can become supersaturated with cholesterol. If cholesterol exceeds what bile salts can keep dissolved, it forms crystals that can aggregate into gallstones. Your genotype at rs4245791 influences how strongly ABCG8 performs this transport and therefore affects your personal risk for cholesterol gallstones.

Non-Genetic Factors That Change Risk

  • Female sex, particularly during reproductive years
  • Use of estrogen or hormonal therapies
  • Obesity and metabolic syndrome
  • Rapid weight loss or very low calorie dieting
  • Diets high in refined carbohydrates and low in fiber

Genetic Interpretation

2 effect alleles (CC genotype) — Increased risk

If you have the CC genotype for rs4245791, you carry two copies of the effect allele. This genotype is associated with an increased risk of cholesterol gallstones.

Why this matters: The CC genotype can lead to greater cholesterol secretion into bile. When bile becomes oversaturated with cholesterol, crystals are more likely to form and clump into gallstones. Your risk can be amplified by female sex, hormonal therapies, obesity, or other lifestyle factors.

Practical steps to consider:

  • Follow a fiber rich diet with plenty of fruits, vegetables, legumes, and whole grains to support healthy bile composition.
  • Include moderate amounts of healthy fats such as olive oil, nuts, and fatty fish. Very low fat diets can reduce gallbladder emptying and increase stasis.
  • Avoid rapid weight loss. Aim for gradual weight reduction of about 0.5 to 1 kg per week if losing weight.
  • Limit refined sugars and processed foods that can worsen metabolic risk.
  • Maintain a healthy body weight through regular physical activity, which helps regulate bile flow and metabolism.
  • Talk with your healthcare provider before starting hormonal therapies that contain estrogen.
  • Consider routine monitoring if you have symptoms such as right upper abdominal pain, nausea after eating fatty foods, or unexplained jaundice.
1 effect allele (CT genotype) — Likely increased risk

If you have the CT genotype for rs4245791, you carry one copy of the effect allele. This genotype is associated with a likely increased risk of cholesterol gallstones compared with the non effect genotype.

Why this matters: Having one effect allele may moderately increase cholesterol secretion into bile. Bile that carries more cholesterol is at greater risk for crystal formation, especially when other risk factors are present.

Practical steps to consider:

  • Adopt a fiber rich eating pattern with fruits, vegetables, legumes, and whole grains to help manage cholesterol balance in bile.
  • Choose moderate healthy fats and avoid extreme low fat diets that can reduce gallbladder motility.
  • Prevent rapid weight loss and use gradual, sustainable approaches if weight reduction is a goal.
  • Limit refined carbohydrates and highly processed foods to reduce metabolic stress.
  • Stay active to support healthy weight and normal bile flow.
  • Discuss any hormone treatments with your clinician to weigh potential gallstone risk.
  • Be attentive to gallbladder related symptoms and seek medical evaluation if they appear.
0 effect alleles (TT genotype) — Typical risk

If you have the TT genotype for rs4245791, you carry two copies of the non effect allele. This genotype is associated with a typical level of cholesterol transport into bile via ABCG8 and does not increase gallstone risk from this specific variant.

Why this matters: Although your genotype at rs4245791 does not raise risk, gallstones can still develop because of other genetic variants, diet, lifestyle, obesity, hormonal influences, or medical conditions.

Practical steps to consider (general gallbladder health):

  • Eat a fiber rich diet with vegetables, fruits, legumes, and whole grains.
  • Include moderate healthy fats to promote normal gallbladder emptying.
  • Avoid very rapid weight loss plans and crash diets.
  • Limit refined sugars and processed foods to support metabolic health.
  • Maintain regular physical activity and a stable healthy weight.
  • Discuss with your provider if you start hormonal therapies or develop symptoms suggestive of gallstones.

Diet, Supplements, and Lifestyle Recommendations

Most strategies to lower gallstone risk focus on supporting healthy bile composition and promoting regular gallbladder emptying.

Diet

  • Prioritize dietary fiber: Aim for a variety of soluble and insoluble fibers from fruits, vegetables, whole grains, pulses, nuts, and seeds.
  • Choose healthy fats in moderation: Olive oil, avocados, nuts, and fatty fish support bile flow when consumed at moderate levels.
  • Limit refined carbohydrates and added sugars: These can worsen insulin resistance and lipid abnormalities that increase gallstone risk.
  • Avoid very low calorie or extreme low fat diets: These can slow gallbladder emptying and promote stone formation during rapid weight loss.

Supplements

  • Vitamin C: Adequate vitamin C supports normal bile acid synthesis. Use as part of a balanced approach rather than a single fix.
  • Omega 3 fatty acids: May support overall lipid metabolism and inflammation when included as part of diet or supplementation.
  • Do not start supplements specifically to prevent gallstones without discussing them with your healthcare provider.

Lifestyle

  • Aim for gradual, steady weight loss if needed. Rapid weight loss raises gallstone risk.
  • Exercise regularly to improve metabolic health and support regular gallbladder emptying.
  • Monitor and manage metabolic risk factors such as high cholesterol, insulin resistance, and obesity with your care team.

When to Talk to Your Healthcare Provider

  • If you develop symptoms such as persistent right upper abdominal pain, nausea after fatty meals, unexplained jaundice, or fever with abdominal pain.
  • Before starting or stopping hormonal therapies that include estrogen.
  • When planning significant weight loss so your provider can recommend a safe, slow approach.
  • To integrate your genetic result with family history, other risk factors, and overall health management.

Important Disclaimer

PlexusDx provides educational information about genetic predispositions only. This content is not medical advice. Always consult your healthcare provider or a qualified health professional before making medical, diet, supplement, or lifestyle changes based on genetic information.