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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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37 hot topic(s) found with the query "Osteoporosis"

Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis
S Zhou et al, Nature Genetics, August 9, 2023 (Posted: Aug 09, 2023 4PM)

We undertook a large-scale multiancestry exome-wide association study for estimated bone mineral density, which showed that the burden of rare coding alleles in 19 genes was associated with estimated bone mineral density (P<3.6×10–7). These genes were highly enriched for a set of known causal genes for osteoporosis (65-fold; P=2.5×10–5). Exome-wide significant genes had 96-fold increased odds of being the top ranked effector gene at a given GWAS locus (P=1.8×10–10). By integrating proteomics Mendelian randomization evidence, we prioritized CD109 (cluster of differentiation 109) as a gene for which heterozygous loss of function is associated with higher bone density.

Are You Up to Date on Your Preventive Care?
CDC, July 2023 Brand (Posted: Aug 01, 2023 9AM)

Family health history is a record of the diseases and health conditions in your family. You and your family members share genes. You may also have behaviors in common, like what you do for physical activity and what you like to eat. You may live in the same area and come into contact with similar harmful things in the environment. Family history includes all of these factors, any of which can affect your health. If you have a family history of a chronic disease, like cancer, heart disease, diabetes, or osteoporosis, you’re more likely to get that disease yourself.

Osteoporosis Screening in Younger Postmenopausal Women
CJ Crandall et al, JAMA Insights, January 10, 2020 (Posted: Jan 12, 2020 2PM)

Osteoporosis screening with bone mineral density is recommended for women aged 65 years+. This paper summarized risk assessment tools, including family history, to select candidates for osteoporosis screening in postmenopausal women <65 years.

The genetic architecture of osteoporosis and fracture risk.
Trajanoska Katerina et al. Bone 2019 Apr (Posted: May 06, 2019 2PM)

Mendelian bone fragility disorders.
Robinson Marie-Eve et al. Bone 2019 Apr (Posted: May 06, 2019 2PM)

Artificial intelligence, osteoporosis and fragility fractures.
Ferizi Uran et al. Current opinion in rheumatology 2019 Apr (Posted: May 06, 2019 2PM)

Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study
K Trajanoska et al, BMJ, August 29, 2018 (Posted: Aug 30, 2018 8AM)

New insights into the epigenetics of osteoporosis.
Letarouilly Jean-Guillaume et al. Genomics 2018 May (Posted: Jul 02, 2018 8AM)

Genetic effects on bone health.
Lovšin Nika et al. Current opinion in clinical nutrition and metabolic care 2018 Jul (4) 233-239 (Posted: Jul 02, 2018 8AM)

Screening to Prevent Osteoporotic Fractures Updated Evidence Report and Systematic Review for the US Preventive Services Task Force
USPSTF Evidence Report, JAMA, June 26, 2018 (Posted: Jun 27, 2018 4PM)

Genetic Disorders of Dental Development: Tales from the Bony Crypt.
Frazier-Bowers Sylvia A et al. Current osteoporosis reports 2017 Feb (1) 9-17 (Posted: Jun 13, 2017 1PM)

Mutation discovered that, linked with drug, predisposes osteoporosis patients to femur fracture
Science Magazine, May 4, 2017 (Posted: May 04, 2017 11AM)

The genetics of bone mass and susceptibility to bone diseases.
Karasik David et al. Nature reviews. Rheumatology 2016 Apr (Posted: May 17, 2016 7AM)

Osteoporosis and Bone Mass Disorders: From Gene Pathways to Treatments.
Rivadeneira Fernando et al. Trends in endocrinology and metabolism: TEM 2016 May (5) 262-81 (Posted: May 17, 2016 7AM)

Does Osteoporosis Run in Your Family?
Brand (Posted: May 17, 2016 7AM)

Implementation of personalized medicine for fracture risk assessment in osteoporosis.
Mori Seijiro et al. Geriatrics & gerontology international 2016 Mar 16 Suppl 157-65 (Posted: Mar 30, 2016 9AM)

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture
HF Zheng et al. Nature, September 14, 2015 (Posted: Sep 15, 2015 10AM)

The extent to which low©\frequency (minor allele frequency (MAF) between 1¨C5%) and rare (MAF&#8201;¡Ü&#8201;1%) variants contribute to complex traits and disease in the general population is mainly unknown. Bone mineral density (BMD) is highly heritable, a major predictor of osteoporotic fractures, and has been previously associated with common genetic variants1, 2, 3, 4, 5, 6, 7, 8, as well as rare, population©\specific, coding variants9. Here we identify novel non©\coding genetic variants with large effects on BMD (ntotal&#8201;=&#8201;53,236) and fracture (ntotal&#8201;=&#8201;508,253) in individuals of European ancestry from the general population. Associations for BMD were derived from whole©\genome sequencing (n&#8201;=&#8201;2,882 from UK10K (ref. 10); a population©\based genome sequencing consortium), whole©\exome sequencing (n&#8201;=&#8201;3,549), deep imputation of genotyped samples using a combined UK10K/1000 Genomes reference panel (n&#8201;=&#8201;26,534), and de novo replication genotyping (n&#8201;=&#8201;20,271). We identified a low©\frequency non©\coding variant near a novel locus, EN1, with an effect size fourfold larger than the mean of previously reported common variants for lumbar spine BMD8 (rs11692564(T), MAF&#8201;=&#8201;1.6%, replication effect size&#8201;=&#8201;+0.20 s.d., Pmeta&#8201;=&#8201;2&#8201;¡Á&#8201;10&#8722;14), which was also associated with a decreased risk of fracture (odds ratio&#8201;=&#8201;0.85; P&#8201;=&#8201;2&#8201;¡Á&#8201;10&#8722;11; ncases&#8201;=&#8201;98,742 and ncontrols&#8201;=&#8201;409,511). Using an En1cre/flox mouse model, we observed that conditional loss of En1 results in low bone mass, probably as a consequence of high bone turnover. We also identified a novel low©\frequency non©\coding variant with large effects on BMD near WNT16 (rs148771817(T), MAF&#8201;=&#8201;1.2%, replication effect size&#8201;=&#8201;+0.41 s.d., Pmeta&#8201;=&#8201;1&#8201;¡Á&#8201;10&#8722;11). In general, there was an excess of association signals arising from deleterious coding and conserved non©\coding variants. These findings provide evidence that low©\frequency non©\coding variants have large effects on BMD and fracture, thereby providing rationale for whole©\genome sequencing and improved imputation reference panels to study the genetic architecture of complex traits and disease in the general population.

A look behind the scenes: the risk and pathogenesis of primary osteoporosis.
Hendrickx Gretl et al. Nat Rev Rheumatol 2015 Apr 21. (Posted: May 18, 2015 10AM)

Genetic analysis identifies DDR2 as a novel gene affecting bone mineral density and osteoporotic fractures in Chinese population.
Guo Yan et al. PLoS ONE 2015 (2) e0117102 (Posted: Apr 15, 2015 7AM)

Polymorphisms associated with low bone mass and high risk of atraumatic fracture.
Zofkova I et al. Physiol Res 2015 Mar 24. (Posted: Apr 15, 2015 7AM)

Gene-based association analysis identified novel genes associated with bone mineral density.
Mo Xing-Bo et al. PLoS ONE 2015 (3) e0121811 (Posted: Apr 15, 2015 7AM)

Genetic Approaches to Identifying Novel Osteoporosis Drug Targets.
Brommage Robert et al. J. Cell. Biochem. 2015 Apr 1. (Posted: Apr 15, 2015 7AM)

From inflammaging to healthy aging by dietary lifestyle choices: is epigenetics the key to personalized nutrition?
Vel Szic Katarzyna Szarc et al. Clin Epigenetics 2015 (1) 33 (Posted: Apr 15, 2015 7AM)

Recent genetic discoveries in osteoporosis, sarcopenia and obesity [Review].
Urano Tomohiko et al. Endocr. J. 2015 Apr 11. (Posted: Apr 15, 2015 7AM)

Osteoporosis: the evolution of a diagnosis.
Lorentzon Mattias et al. J. Intern. Med. 2015 Apr 2. (Posted: Apr 15, 2015 7AM)

Osteoporosis: Screening, Prevention, and Management.
Golob Anna L et al. Med. Clin. North Am. 2015 May (3) 587-606 (Posted: Apr 15, 2015 7AM)

Screening for Osteoporosis.
Altkorn Diane et al. JAMA 2015 Apr 14. (14) 1467-1468 (Posted: Apr 15, 2015 7AM)

Genomics, family health history and osteoporosis
Brand (Posted: Feb 25, 2015 0PM)

Heart Transplant
From NHLBI health topic site Brand (Posted: Jan 01, 2014 0AM)

Heart transplant is surgery that removes a diseased heart and replaces it with a healthy heart from a deceased donor to improve your quality of life and increase your lifespan. Overview Most heart transplants are done on patients who have end-stage heart failure, a condition in which your heart is severely damaged or weakened, and on people who have failed other treatment options. End-stage heart failure may be caused by conditions such as coronary heart disease, viral infections, or hereditary conditions. In rare instances, heart transplant may be performed at the same time as lung transplant in patients who have severe heart and lung disease. You may be eligible for heart transplant surgery if you have severe heart disease that does not respond to other treatments. If you are otherwise healthy enough for surgery, you will be placed on the National Organ Procurement and Transplantation Network?s waiting list. This national network handles the organ-sharing process for the United States. If a match is found, you will need to have your heart transplant surgery right away. Heart transplant surgery will be done in a hospital. You will have general anesthesia and will not be awake during the surgery. You will receive medicine through an intravenous (IV) line in your arm. A breathing tube connected to a ventilator will help you breathe. A surgeon will open your chest, connect your heart?s arteries and veins to a heart-lung bypass machine, and remove your diseased heart. The body?s arteries and veins will be taken off the bypass machine and reconnected to the healthy donor heart. The heart transplant is complete after the surgeon closes your chest. After the surgery, you will recover in the hospital?s intensive care unit (ICU) and stay in the hospital for up to three weeks. During your recovery, you may start a cardiac rehabilitation program. Before leaving the hospital, you will learn how to keep track of your overall health; monitor your weight, blood pressure, pulse, and temperature; and learn the signs of heart transplant rejection and infection. For the first three months after leaving the hospital, you will return often for tests to check for infection or rejection of your new heart, to test your heart function, and to make sure that you are recovering well. Practicing good hygiene, obtaining routine vaccines, and making healthy lifestyle choices are very important after a heart transplant to reduce your risk of infection. Regular dental care is also important. Your doctor or dentist may prescribe antibiotics before any dental work to prevent infection. Following your doctor?s advice will help you recover and stay as healthy as possible. Heart transplant has some serious risks. Primary graft dysfunction happens when the donor heart fails and cannot function. This is the most frequent cause of death for the first month after transplant. Your immune system also may reject your new heart. Rejection is most likely to occur within six months after the transplant. You will need to take medicines for the rest of your life to suppress your immune system and help prevent your body from rejecting your new heart. These medicines weaken your immune system and increase your chance for infection. Their long-term use also can increase your risk for cancer, cause diabetes and osteoporosis, and damage your kidneys. Cardiac allograft vasculopathy is a common and serious complication of heart transplant. Cardiac allograft vasculopathy is an aggressive form of atherosclerosis that over months or a few years can quickly block the heart?s arteries and cause the donor heart to fail. Over time, your new heart may fail due to the same reasons that caused your original heart to fail. Some patients who have a heart transplant that fails may be eligible for another transplant. Despite these risks, heart transplant has a good success rate that has improved over many decades of research. Recent survival rates are about 85 percent at one year after surgery, with survival rates decreasing by about three to four percent each additional year after surgery because of serious complications. Mechanical circulatory support, possibly from left ventricular assist devices, may be an alternative to heart transplant. But more research is needed to determine long-term survival rates for these new devices.

Cystic Fibrosis
From NHLBI health topic site Brand (Posted: Jan 01, 2014 0AM)

What Is Cystic fibrosis (SIS-tik fi-BRO-sis), or CF, is an inherited disease of the secretory (see-KREH-tor-ee) glands. Secretory glands include glands that make mucus and sweat. "Inherited" means the disease is passed from parents to children through genes. People who have CF inherit two faulty genes for the disease?one from each parent. The parents likely don't have the disease themselves. CF mainly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs. Overview Mucus is a substance made by tissues that line some organs and body cavities, such as the lungs and nose. Normally, mucus is a slippery, watery substance. It keeps the linings of certain organs moist and prevents them from drying out or getting infected. If you have CF, your mucus becomes thick and sticky. It builds up in your lungs and blocks your airways. (Airways are tubes that carry air in and out of your lungs.) The buildup of mucus makes it easy for bacteria to grow. This leads to repeated, serious lung infections. Over time, these infections can severely damage your lungs. The thick, sticky mucus also can block tubes, or ducts, in your pancreas (an organ in your abdomen). As a result, the digestive enzymes that your pancreas makes can't reach your small intestine. These enzymes help break down food. Without them, your intestines can't fully absorb fats and proteins. This can cause vitamin deficiency and malnutrition because nutrients pass through your body without being used. You also may have bulky stools, intestinal gas, a swollen belly from severe constipation, and pain or discomfort. CF also causes your sweat to become very salty. Thus, when you sweat, you lose large amounts of salt. This can upset the balance of minerals in your blood and cause many health problems. Examples of these problems include dehydration (a lack of fluid in your body), increased heart rate, fatigue (tiredness), weakness, decreased blood pressure, heat stroke, and, rarely, death. If you or your child has CF, you're also at higher risk for diabetes or two bone-thinning conditions called osteoporosis (OS-te-o-po-RO-sis) and osteopenia (OS-te-o-PEE-nee-uh). CF also causes infertility in men, and the disease can make it harder for women to get pregnant. (The term "infertility" refers to the inability to have children.) Outlook The symptoms and severity of CF vary. If you or your child has the disease, you may have serious lung and digestive problems. If the disease is mild, symptoms may not show up until the teen or adult years. The symptoms and severity of CF also vary over time. Sometimes you'll have few symptoms. Other times, your symptoms may become more severe. As the disease gets worse, you'll have more severe symptoms more often. Lung function often starts to decline in early childhood in people who have CF. Over time, damage to the lungs can cause severe breathing problems. Respiratory failure is the most common cause of death in people who have CF. As treatments for CF continue to improve, so does life expectancy for those who have the disease. Today, some people who have CF are living into their forties or fifties, or longer. Early treatment for CF can improve your quality of life and increase your lifespan. Treatments may include nutritional and respiratory therapies, medicines, exercise, and other treatments. Your doctor also may recommend pulmonary rehabilitation (PR). PR is a broad program that helps improve the well-being of people who have chronic (ongoing) breathing problems. Other Names ?Cystic fibrosis of the pancreas ?Fibrocystic disease of the pancreas ?Mucoviscidosis (MU-ko-vis-ih-DO-sis) ?Mucoviscidosis of the pancreas ?Pancreas fibrocystic disease ?Pancreatic cystic fibrosis

Lung Transplant
From NHLBI health topic site Brand (Posted: Jan 01, 2014 0AM)

Lung transplant is surgery to remove a diseased lung and replace it with a healthy lung. Overview Lung transplants are used to improve the quality of life and extend the lifespan for people who have severe or advanced chronic lung conditions. In rare instances, a lung transplant may be performed at the same time as a heart transplant in patients who have severe heart and lung disease. You may be eligible for lung transplant surgery if you have severe lung disease that does not respond to other treatments. If you are otherwise healthy enough for surgery, you will be placed on the National Organ Procurement and Transplantation Network?s waiting list. This network handles the nation?s organ-sharing process. If a match is found, you will need to have your lung transplant surgery right away. This surgery will be performed in a hospital. You will have general anesthesia and will not be awake for the surgery. Tubes will help you breathe, give you medicine, and help with other bodily functions. A surgeon will open your chest, cut the main airway and blood vessels, and remove your diseased lung. The surgeon will connect the healthy donor lung, reconnect the blood vessels, and close your chest. After the surgery, you will recover in the hospital?s intensive care unit (ICU) before moving to a hospital room for one to three weeks. Your doctor may recommend pulmonary rehabilitation after your lung transplant surgery to help you regain and improve your breathing. Pulmonary rehabilitation may include exercise training, education, and counseling. Pulmonary function tests will help doctors monitor your breathing and recovery. After leaving the hospital, you will visit your doctor often to check for infection or rejection of your new lung, to test your lung function, and to make sure that you are recovering well. The first year after lung transplant surgery is when you are most at risk for possibly life-threatening complications such as rejection and infection. To help prevent rejection, you will need to take medicines for the rest of your life that suppress your immune system and help prevent your body from rejecting your new lungs. These important medicines weaken your immune system and increase your chance for infections, and over time they can increase your risk for cancer, diabetes, osteoporosis, and kidney damage. Practicing good hygiene, obtaining routine vaccines, and adopting healthy lifestyle choices such as heart-healthy eating and not smoking are very important. Getting emotional support and following your doctor?s advice will help you recover and stay as healthy as possible.

Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Osteoporosis oculocutaneous hypopigmentation syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Cutis laxa osteoporosis
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Osteoporosis-pseudoglioma syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Juvenile osteoporosis
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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