Is Biliary Atresia Genetic?

Meaning of the Disease

Biliary atresia refers to a progressive bile ducts and liver problem, which takes place in perinatal or embryonic period and it results in severe or persistent jaundice and other unfavorable problems if left in untreated condition.

General Discussion of the Disease

Biliary atresia refers to a rare type of gastrointestinal disorder characterizes absence or destruction of a particular portion or the entire bile duct, which present at the outer area of the liver i.e. extrahepatic bile duct.

Bile duct implies a tube allowing the passage of bile within the gall bladder from the liver and eventually reaching to reach to the small intestine. Liver secretes liquid called bile, which has a prime role to carry waste products and promote the absorption of vitamins and fats by intestines. In case of biliary atresia problem, destruction or absence of bile duct leads to abnormal accumulation of bile fluid within the liver.

Affected infants or babies suffer from yellowing of their skin and whites of eyes i.e. jaundice. Moreover, in some cases, babies suffer from fibrosis or live scar problem. In some of the cases, biliary atresia problem causes a few more abnormalities, which include intestinal and heart defects, malformations of kidney and spleen.

Until now, none of the pediatricians or doctors has identified the exact cause of the problem. However, a few doctors have predicted that the biliary atresia disease has some associations with genetic factors.

Is Biliary Atresia Genetic?

Is Biliary Atresia Genetic?

Genetic Study

Latest genetic study has revealed a few key facts about rare problem of biliary atresia takes place in infants. Details of which are-

Researchers conducted a collaborative genetic study of the biliary atresia, a rare liver condition occurs excessively in neonatal stage. According to the data, about one from 15,000 infants suffers from biliary atresia and the disease is common in African Americans and Asians. In case the problem remains untreated, it may result in cirrhosis or further liver damages. Even a few patients may require liver transplantation procedure.

Identification of GPC1 Candidate Gene

Doctors of Children’s Hospital searched for CNVs i.e. Copy Number Variations based on gains or losses in the sequence of DNA in BA patients and compare them with those of healthy people. Based on the analysis, the leading doctor and their team find out GPC1 candidate gene. Another doctor then selected an animal model and studied about reducing the GPC1 expression in zebrafish i.e. a tropical freshwater fish used commonly in medical and scientific studies.

GPC1 Gene Disruption Results in Biliary Defects

Researchers have revealed that GPC1 gene disruption has resulted in biliary defects/problems in the zebrafish. Along with this crucial finding, investigators have also observed that abnormalities related to GPC1 in every biliary atresia patient’s liver supports a major role for GPC1 in the form of a susceptible gene for biliary atresis. The study is in accordance with the previous work done related to a chromosome 2 region with BA liver problem.


Even though doctors succeeded to identify and conclude that the disruption of GPC1 gene causes biliary atresis in zebrafish, however, they have until now not be able to test infants/babies for genetic susceptibility towards biliary atresis.

Also Read:

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:January 11, 2019

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