This article explains the genetic factors in celiac disease and the risk of inheriting them. It also covers symptoms to watch for if celiac disease runs in your family.
In someone with celiac disease, the immune system attacks gluten, which is a protein present in grains such as wheat, barley, and rye, among other foods and substances.
This reaction damages the small intestine and can cause a variety of digestive symptoms and other conditions, including:
- anemia
- osteoporosis
- chronic fatigue
- infertility
- miscarriage, or pregnancy loss
Researchers have identified two specific genes that determine susceptibility to celiac disease: HLA-DQA1 and HLA-DQB1. The GRDIC explains that these genes are part of the group of genes that help antigens distinguish between good proteins and those made by foreign viruses and bacteria.
The GRDIC adds that people who are susceptible to celiac disease have certain combinations of versions of the HLA-DQA1 and HLA-DQB1 genes. These combinations are known as haplotypes. Celiac disease susceptibility results from two specific haplotypes: HLA-DQ2 and HLA-DQ8.
Experts emphasize that not everyone who has these haplotypes will have celiac disease, but they are at increased risk of developing it. The GRDIC reports that people without either of these genetic combinations have a less-than-1% chance of developing celiac disease.
Among people who have these genetic markers, only 3% will develop celiac disease. However, the specific haplotype a person has can influence their likelihood of having celiac disease.
The HLA-DQ2 haplotype is present in about 95% of people who have celiac disease. Most other people with celiac disease have the HLA-DQ8 haplotype.
According to University of Chicago Medicine, if you have not received a celiac disease diagnosis but have a family member with the condition, your risk of developing the condition is higher than that of people without a family history of celiac disease.
The University of Chicago Medicine outlines familial risk as follows:
| Your relationship to someone with celiac disease | Your risk of developing CD |
| first-degree relative (parent, child, or sibling) | 1 in 22 |
| second-degree relative (grandparent, aunt, uncle, or cousin) | 1 in 39 |
The Celiac Disease Foundation lists an even higher rate — 1 in 10 — for first-degree family members. For context, the risk for someone with no genetic factors is less than 1 in 100.
Again, it is important to note that a parent with celiac disease does not definitively pass the condition on to a child. They can only pass an increased risk of developing the condition.
The GRDIC explains that if a parent carries either the HLA-DQ2 or the HLA-DQ8 haplotype, there is a 50% chance of passing the susceptibility to each child that person has. Someone who has the HLA-DQ2 haplotype on both copies of the affected chromosome (chromosome 6) will pass the susceptibility to all children they have.
Doctors use genetic testing to determine if someone has these specific genetic markers for an increased risk of celiac disease. If you have a family history of celiac disease or want to know your genetic makeup before having children, talk with your doctor about options for genetic testing and genetic counseling.
Not everyone with the HLA-DQ2 or HLA-DQ8 haplotypes will develop celiac disease. However, everyone with celiac disease has one or both of these markers. As a result, doctors typically use genetic testing to rule out a diagnosis of celiac disease. If you do not have either of these markers, you do not have celiac disease.
The Celiac Disease Foundation recommends genetic testing for people who:
- are first- or second-degree relatives of someone who has a celiac disease diagnosis
- have unclear antibody test results
- have been following a gluten-free diet, which makes antibody testing inaccurate
- have ambiguous intestinal biopsy results
- have different findings from antibody tests and biopsy results
If your genetic test is positive, your doctor will discuss your individual risk of developing celiac disease and advise on possible symptoms to watch for.
If you learn that you have an increased risk of developing celiac disease, it is important to talk with your doctor about any symptoms you notice so that you can receive an accurate diagnosis and prevent potential complications of the condition.
The GRDIC lists these common symptoms of celiac disease:
- diarrhea
- abdominal pain
- bloating
- vomiting
- fatigue
- joint pain
- depression
- anxiety
- missed periods
- infertility
- recurring miscarriage
- iron deficiency anemia
- peripheral neuropathy, or numbness in the hands and feet
Symptoms of celiac disease in children
The Celiac Disease Foundation notes that children often experience different symptoms of celiac disease than adults, with symptoms in babies and children including:
- bloating
- diarrhea
- constipation
- irritability
- changes in behavior
- damage to the enamel in permanent teeth
- delayed puberty
- failure to thrive, or slow physical development
- slowed growth
- attention deficit hyperactivity disorder (ADHD)
If you experience symptoms and receive a diagnosis of celiac disease, your doctor will discuss how to eliminate gluten from your diet. They may refer you to a nutritionist or dietitian who can help you with gluten-free meal planning.
Celiac disease is an autoimmune condition that causes a sensitivity to gluten.
Researchers have linked celiac disease to two specific genetic combinations, or haplotypes: HLA-DQ2 and HLA-DQ8. The presence of these haplotypes does not necessarily mean that you will have celiac disease. However, it significantly increases your risk of developing it.
Similarly, the children of people with celiac disease may inherit a genetic susceptibility to the condition, but it is not definitive that they will develop it.
If you have a family history of celiac disease, you may wish to talk with a doctor about your individual risk and whether or not genetic testing may be necessary.
