Shared Gene Variant Links Periodontitis and Heart Attack

Author: European Society of Human Genetics
Published: 25 May 2009 - Updated: 22 Oct 2026
Publication Type: Findings

Table of Contents:
Synopsis - Definition - Overview - FAQs - Insights, Updates - Related Content

Synopsis

This research, presented by Dr. Arne Schaefer of the Institute for Clinical Molecular Biology at the University of Kiel to the annual conference of the European Society of Human Genetics, reports the first shared genetic risk factor found for periodontitis and coronary heart disease. The team examined a stretch of chromosome 9p21.3 already tied to myocardial infarction in 151 people with aggressive, early-onset periodontitis and 1,097 heart disease patients who had survived a heart attack, then confirmed the result in a further 180 periodontitis patients and 1,100 heart patients. The same variant turned up in both diseases, sitting in a region that codes for ANRIL, an antisense RNA that does not make a protein but can switch down gene activity. The finding matters because it gives a biological basis to a link doctors had long seen between gum disease and heart attack, and it supports the researchers' advice that dentists diagnose and treat periodontitis early - useful information for older adults, people with diabetes, and anyone whose disability makes daily brushing, flossing or dental visits harder.*

At a Glance

• 1 - Smoking, diabetes and obesity are the most important risk factors shared by coronary heart disease and periodontitis.
• 2 - Researchers have found similar bacteria in the mouth and in coronary artery plaques, and both diseases involve chronic inflammation.
• 3 - Periodontitis destroys the connective tissue and bone that support the teeth and is the major cause of tooth loss in adults over 40.
• 4 - Antisense RNA does not code for a protein but binds to matching messenger RNA, forming a duplex that can block that protein from being made.

Topic Definition

Periodontitis

Periodontitis is a serious, long-lasting infection of the gums caused by bacterial plaque building up along and below the gum line. It usually begins as gingivitis, a milder and reversible inflammation that causes red, swollen or bleeding gums. If left untreated, the inflammation spreads deeper, pulling the gums away from the teeth to form pockets that collect more bacteria, while the body's own immune response gradually breaks down the ligaments and jawbone that hold the teeth in place. The result can be loose teeth, bad breath, painful chewing and eventually tooth loss. Periodontitis is managed with professional deep cleaning, called scaling and root planing, careful home care and, in advanced cases, gum surgery, and it has been linked to wider health problems including diabetes and heart disease.

Overview

The relationship between the dental disease periodontitis and coronary heart disease (CHD) has been known for several years. Although a genetic link seemed likely, until now its existence was uncertain. Now, for the first time, scientists have discovered a genetic relationship between the two conditions.

Scientists find shared genetic link between the dental disease periodontitis and heart attack.

The relationship between the dental disease periodontitis and coronary heart disease (CHD) has been known for several years. Although a genetic link seemed likely, until now its existence was uncertain. Now, for the first time, scientists have discovered a genetic relationship between the two conditions, a researcher told the annual conference of the European Society of Human Genetics  on May 25, 2009.

Dr. Arne Schaefer, of the Institute for Clinical Molecular Biology, University of Kiel, Germany, said that his team had discovered a genetic variant situated on chromosome 9 which was shared between the two diseases.

"We studied a genetic locus on chromosome 9p21.3 that had previously been identified to be associated with myocardial infarction, in a group of 151 patients suffering from the most aggressive, early-onset forms of periodontitis, and a group of 1097 CHD patients who had already had a heart attack. The genetic variation associated with the clinical pictures of both diseases was identical," he said.

The scientists went on to verify the association in further groups of 1100 CHD patients and 180 periodontitis patients.

"We found that the genetic risk variant is located in a genetic region that codes for an antisense RNA called ANRIL", said Dr. Schaefer, "and that it is identical for both diseases."

When a gene is ready to produce a protein, the two strands of DNA in the gene unravel. One strand produces messenger RNA, and will express a protein. Antisense RNA is complementary to the mRNA, and is often carried by the reverse strand, the 'anti-sense' strand of the DNA double helix. This strand does not encode for a protein, but can bind specifically to the messenger RNA to form a duplex. Through this binding, the antisense strand inhibits the protein expression of the mRNA.

Coronary heart disease is the leading cause of death worldwide, and periodontitis, which leads to the loss of connective tissue and the bone support of teeth, is the major cause of tooth loss in adults over 40 years. Periodontitis is very common, and about 70% of U.S. adults aged 65 and older have periodontal disease, according to the CDC. Research has already shown a genetic basis for both diseases.

"We intend to push ahead with our work to try to understand more about the function of this RNA molecule and the pathway in which it operates in healthy gums and also in periodontitis. In the meantime, because of its association with CHD, we think that periodontitis should be taken very seriously by dentists and diagnosed and treated as early as possible", said Dr. Schaefer.

Both CHD and periodontitis are propagated by the same risk factors - most importantly smoking, diabetes and obesity - and there is also a gender relationship, with men possibly more liable to these diseases than women. Researchers have also shown similarities in the bacteria found in the oral cavity and in coronary plaques, and both diseases are characterized by an imbalanced immune reaction and chronic inflammation.

"These factors already indicated a possible mutual genetic basis underlying the two diseases", said Dr. Schaefer. "Now we know for sure that there is a strong genetic link, patients with periodontitis should try to reduce their risk factors and take preventive measures at an early stage", he said. "We hope that our findings will make it easier to diagnose the disease at an early stage, and that in future a greater insight into the specific pathophysiology might open the way to effective treatment before the disease can take hold."

Editor's Note: This report describes findings presented in May 2009, when the shared chromosome 9p21.3 variant was a new discovery. Since then, research has continued to support a link between gum disease and heart disease. In 2012, the American Heart Association published a scientific statement in its journal Circulation that reviewed the evidence. It concluded that periodontal disease is associated with heart and blood vessel disease independent of shared risk factors, but that there is no proof gum disease causes heart disease, or that treating it prevents heart attacks or strokes. Good oral care and regular dental visits are still worthwhile, but they should go alongside, not replace, managing heart risk factors such as smoking, blood pressure, cholesterol and diabetes.

Frequently Asked Questions

NOTE: Researched FAQs by Disabled World (DW)

What are the early warning signs of periodontitis?

Common signs include gums that bleed when you brush or floss, red or swollen gums, persistent bad breath, gums pulling back from the teeth, sensitive or loose teeth, and changes in how your teeth fit together when you bite. Early gum disease is often painless, so regular dental checkups are the best way to catch it.

Can treating gum disease lower my risk of a heart attack?

Treating gum disease reduces inflammation in the mouth and some studies suggest it may improve markers of heart health, but it has not been proven to prevent heart attacks. The best approach is to treat gum disease for its own sake while also managing heart risk factors such as smoking, blood pressure, cholesterol and blood sugar.

Is periodontitis the same as gingivitis?

No. Gingivitis is the early, mild stage of gum disease that affects only the gums and can usually be reversed with good brushing, flossing and a professional cleaning. Periodontitis is the advanced stage, where infection and inflammation have damaged the bone and tissue supporting the teeth, and that damage cannot be fully undone.

Can a genetic test tell me if I am at risk for gum disease and heart disease?

Some consumer and clinical tests look at variants on chromosome 9p21, but a single variant only modestly raises risk and does not mean you will develop either disease. Lifestyle factors, a family history and regular checkups with your doctor and dentist give a more useful picture of your personal risk.

How often should I see a dentist if I have periodontitis?

People being treated for periodontitis are often advised to have a professional cleaning every three to four months rather than the usual six. Your dentist or periodontist will set a schedule based on how deep your gum pockets are and how well the disease is responding to treatment.

Does diabetes make gum disease worse?

Yes. Diabetes, especially when blood sugar is poorly controlled, raises the risk of periodontitis and can make it more severe. Gum infection can in turn make blood sugar harder to manage, so people with diabetes benefit from close attention to both their oral health and their glucose levels.

How can people with limited hand movement keep their gums healthy?

Electric toothbrushes, toothbrushes with wide or custom grips, floss holders, water flossers and interdental brushes can make daily cleaning easier. Caregivers can be shown how to help with brushing, and dentists can suggest fluoride or antibacterial rinses and more frequent cleanings when home care is difficult.

Are men more likely than women to get periodontitis?

Studies generally find that men have higher rates of periodontitis than women. This is thought to be linked partly to differences in smoking rates, dental visits and home oral care habits, as well as possible biological differences in immune response.

Insights, Analysis, and Developments

Editorial Note: The Kiel findings were an early and important piece of evidence that gum disease and heart disease are tied together at the level of our genes, not only through shared habits like smoking. In the years since, the connection between the two has held up well in large population studies, although the American Heart Association has cautioned that an association is not the same as proof that gum disease causes heart attacks, or that treating it prevents them. What the research does make clear is that periodontitis is far more than a cosmetic or dental nuisance. For seniors, people living with diabetes, and people with disabilities who rely on caregivers or adapted tools for oral care, healthy gums are worth treating as part of overall health, and bleeding, receding or tender gums are a good reason to see a dentist sooner rather than later.*

* Editorial additions by Ian C. Langtree.