Thursday, August 21, 2025
Science
No Result
View All Result
  • Login
  • HOME
  • SCIENCE NEWS
  • CONTACT US
  • HOME
  • SCIENCE NEWS
  • CONTACT US
No Result
View All Result
Scienmag
No Result
View All Result
Home Science News Medicine

Shedding light on the origin of a genetic variant underlying fungal infections

June 11, 2024
in Medicine
Reading Time: 3 mins read
0
Genetic profile and clinical characteristics of CARD9 deficiency in East Asia
65
SHARES
592
VIEWS
Share on FacebookShare on Twitter
ADVERTISEMENT
ADVERTISEMENT

Researchers from Japan uncover the genetic diversity and regional patterns of CARD9 deficiency in patients susceptible to fungal diseases

Genetic profile and clinical characteristics of CARD9 deficiency in East Asia

Credit: Department of Child Health and Development, TMDU

Researchers from Japan uncover the genetic diversity and regional patterns of CARD9 deficiency in patients susceptible to fungal diseases

Tokyo, Japan – Fungal infections pose life-threatening risks, especially when vital organs or the central nervous system are affected. Individuals harboring variants in the CARD9 gene are particularly susceptible to invasive fungal infections, given that the protein coded by this gene serves as a critical regulator of the immune system. A recent discovery by Tokyo Medical and Dental University (TMDU) researchers suggests that a specific variant of CARD9 prevalent across northern China, Korea, and Japan may have originated from a common ancestor. 

In their study published on 17 May 2024 in the Journal of Clinical Immunology, the researchers from TMDU conducted genetic analyses on Japanese and Korean patients who suffered from severe or recurring fungal infections. Their goal was to shed light on the genetic and clinical traits of individuals affected by CARD9 deficiency in East Asia.

The study included a total of five patients who were deficient for CARD9. Among them, two Japanese patients were newly identified as carriers of biallelic variants of CARD9 via DNA sequencing conducted by the research team, prompted by their medical history of fungal infections. Notably, both of these patients, along with three other patients who had previously been investigated, two Korean and one Japanese, were identified as carriers of a CARD9 variant called c.820dup.

 “The global distribution of CARD9 deficiency is biased, with high incidence in North Africa, the Middle East, and China. Notably, the distribution of CARD9 variants is also biased, with the c.820dup variant being relatively common in China,” explains Prof. Hirokazu Kanegane, the lead researcher of the study. 

The fact that all five patients shared the same variant caught the researchers’ attention. They hypothesized that this scenario could be explained by the “founder effect,” where a variant becomes common in a population that originated from a small group of ancestors. To verify their hypothesis, the researchers performed haplotype analyses. Put simply, they examined groups of genes that are inherited together from a parent (haplotypes) to determine whether these genes were identical among the five patients and matched previously sequenced haplotypes from Chinese CARD9-deficient patients.

Interestingly, they found strong evidence suggesting that all haplotypes containing the c.820dup variant were exactly the same. With further statistical genetic analyses, the researchers estimated the age of the c.820dup variant itself, which turned out to be between 2,000 and 4,000 years. Remarkably, the estimated variant’s age and its distribution in Japan, Korea, and China are perfectly in line with the history of the East Asia region. “Modern Japanese and Koreans are believed to have a genetic background originating from northern China. During the late Neolithic to the Bronze Age, the migration of people from northern China to Korea and Japan spread rice and language. The origins of the variant identified in this study are consistent with this historical period,” remarks Prof. Kanegane. “We thus conclude that this variant originates from a common ancestor, estimated to have lived less than 4,000 years ago.”

Additionally, although the variant observed was the same, the clinical presentation of patients from Japan and Korea differed from that of Chinese patients according to medical records. More specifically, Chinese patients often suffered from black mold infections caused by the genus Phialophora, whereas none of the five patients from Japan and Korea exhibited such infections. The researchers ascribed this discrepancy to environmental factors, possibly related to the more rural lifestyle in northern China.

Together, the findings of this interdisciplinary study make important contributions to our knowledge of anthropology, genetics, and medicine, and shed light on how genetic variants can propagate across different regions and through generations.

###

The article, “Inherited CARD9 Deficiency Due to a Founder Effect in East Asia,” was published in the Journal of Clinical Immunology at DOI: 10.1007/s10875-024-01724-7
 



Journal

Journal of Clinical Immunology

DOI

10.1007/s10875-024-01724-7

Article Title

Inherited CARD9 Deficiency Due to a Founder Effect in East Asia

Share26Tweet16
Previous Post

Would astronauts’ kidneys survive a roundtrip to Mars?

Next Post

AI method reveals millions of dead trees hidden among the living before California’s historic 2020 wildfires

Related Posts

blank
Medicine

Ambient Documentation Technologies Alleviate Physician Burnout and Rekindle Joy in Medical Practice

August 21, 2025
blank
Medicine

Decoding mTORC1’s Dynamic Amino Acid Control

August 21, 2025
blank
Medicine

Wearable Devices Improve Parkinson’s Medication Adjustments: Trial

August 21, 2025
blank
Medicine

How Cancer Affects the Accuracy of Forensic DNA Methylation Age Estimation

August 21, 2025
blank
Medicine

STING Triggers ZBP1 Necroptosis Without TNFR1

August 21, 2025
blank
Medicine

Toxoplasma, IL-1 Cause DNA Damage, Cognitive Decline

August 21, 2025
Next Post

AI method reveals millions of dead trees hidden among the living before California’s historic 2020 wildfires

  • Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study

    Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study

    27536 shares
    Share 11011 Tweet 6882
  • University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept

    951 shares
    Share 380 Tweet 238
  • Bee body mass, pathogens and local climate influence heat tolerance

    641 shares
    Share 256 Tweet 160
  • Researchers record first-ever images and data of a shark experiencing a boat strike

    508 shares
    Share 203 Tweet 127
  • Warm seawater speeding up melting of ‘Doomsday Glacier,’ scientists warn

    311 shares
    Share 124 Tweet 78
Science

Embark on a thrilling journey of discovery with Scienmag.com—your ultimate source for cutting-edge breakthroughs. Immerse yourself in a world where curiosity knows no limits and tomorrow’s possibilities become today’s reality!

RECENT NEWS

  • Metagenomics Uncovers Stress Disrupting Virus-Host Links
  • Biobased Chelators Boost Carbon Mineralization via Peridotite
  • Baryon-Meson Transitions: Strong Force’s Secrets Revealed

  • Space-Based Solar Panels Could Slash Europe’s Renewable Energy Requirements by 80%

Categories

  • Agriculture
  • Anthropology
  • Archaeology
  • Athmospheric
  • Biology
  • Bussines
  • Cancer
  • Chemistry
  • Climate
  • Earth Science
  • Marine
  • Mathematics
  • Medicine
  • Pediatry
  • Policy
  • Psychology & Psychiatry
  • Science Education
  • Social Science
  • Space
  • Technology and Engineering

Subscribe to Blog via Email

Enter your email address to subscribe to this blog and receive notifications of new posts by email.

Join 4,859 other subscribers

© 2025 Scienmag - Science Magazine

Welcome Back!

Login to your account below

Forgotten Password?

Retrieve your password

Please enter your username or email address to reset your password.

Log In
No Result
View All Result
  • HOME
  • SCIENCE NEWS
  • CONTACT US

© 2025 Scienmag - Science Magazine

Discover more from Science

Subscribe now to keep reading and get access to the full archive.

Continue reading