We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress hp
Sign In
Advertise with Us
LGC Clinical Diagnostics

Download Mobile App




Genomic Study Identifies Kidney Disease Loci in Type I Diabetes Patients

By LabMedica International staff writers
Posted on 30 Sep 2019
Print article
Image: A photomicrograph showing two glomeruli in diabetic kidney disease: the acellular light purple areas within the capillary tufts are the destructive mesangial matrix deposits (Photo courtesy of Wikimedia Commons).
Image: A photomicrograph showing two glomeruli in diabetic kidney disease: the acellular light purple areas within the capillary tufts are the destructive mesangial matrix deposits (Photo courtesy of Wikimedia Commons).
A large genome-wide association study (GWAS) identified 16 genetic loci linked to the development of kidney disease by individuals with type I diabetes.

Although earlier studies have found that diabetic kidney disease has a heritable component, searches for the genetic determinants of this complication of diabetes have had limited success.

To identify genetic variants that predispose people to diabetic kidney disease, investigators at Harvard Medical School (Boston, MA, USA) and their colleagues performed genome-wide association analyses on samples from19,406 individuals of European descent with type I diabetes, with and without kidney disease.

Results revealed 16 genome-wide loci linked to significant risk of developing kidney disease. The variant with the strongest association was a common missense mutation (a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid) in the collagen type IV alpha 3 chain (COL4A3) gene, which encodes a major structural component of the glomerular basement membrane (GBM).

Mutations in COL4A3 have been implicated in heritable kidney disorders, including the progressive inherited nephropathy Alport syndrome.

“This study represents a substantial advance in the genetics of diabetic kidney disease, where previous studies had yielded few robust associations,” said senior author Dr. Jose C. Florez, professor of medicine at Harvard Medical School. “The 16 diabetic kidney disease-associated regions provide novel insights into the pathogenesis of diabetic kidney disease, identifying potential biological targets for prevention and treatment.”

Related Links:
Harvard Medical School

Gold Member
Serological Pipet Controller
PIPETBOY GENIUS
Verification Panels for Assay Development & QC
Seroconversion Panels
New
Respiratory QC Panel
Assayed Respiratory Control Panel
New
Silver Member
ACTH Assay
ACTH ELISA

Print article

Channels

Clinical Chemistry

view channel
Image: The tiny clay-based materials can be customized for a range of medical applications (Photo courtesy of Angira Roy and Sam O’Keefe)

‘Brilliantly Luminous’ Nanoscale Chemical Tool to Improve Disease Detection

Thousands of commercially available glowing molecules known as fluorophores are commonly used in medical imaging, disease detection, biomarker tagging, and chemical analysis. They are also integral in... Read more

Immunology

view channel
Image: The cancer stem cell test can accurately choose more effective treatments (Photo courtesy of University of Cincinnati)

Stem Cell Test Predicts Treatment Outcome for Patients with Platinum-Resistant Ovarian Cancer

Epithelial ovarian cancer frequently responds to chemotherapy initially, but eventually, the tumor develops resistance to the therapy, leading to regrowth. This resistance is partially due to the activation... Read more

Microbiology

view channel
Image: The lab-in-tube assay could improve TB diagnoses in rural or resource-limited areas (Photo courtesy of Kenny Lass/Tulane University)

Handheld Device Delivers Low-Cost TB Results in Less Than One Hour

Tuberculosis (TB) remains the deadliest infectious disease globally, affecting an estimated 10 million people annually. In 2021, about 4.2 million TB cases went undiagnosed or unreported, mainly due to... Read more

Pathology

view channel
Image: The ready-to-use DUB enzyme assay kits accelerate routine DUB activity assays without compromising data quality (Photo courtesy of Adobe Stock)

Sensitive and Specific DUB Enzyme Assay Kits Require Minimal Setup Without Substrate Preparation

Ubiquitination and deubiquitination are two important physiological processes in the ubiquitin-proteasome system, responsible for protein degradation in cells. Deubiquitinating (DUB) enzymes contain around... Read more

Technology

view channel
Image: The HIV-1 self-testing chip will be capable of selectively detecting HIV in whole blood samples (Photo courtesy of Shutterstock)

Disposable Microchip Technology Could Selectively Detect HIV in Whole Blood Samples

As of the end of 2023, approximately 40 million people globally were living with HIV, and around 630,000 individuals died from AIDS-related illnesses that same year. Despite a substantial decline in deaths... Read more

Industry

view channel
Image: The collaboration aims to leverage Oxford Nanopore\'s sequencing platform and Cepheid\'s GeneXpert system to advance the field of sequencing for infectious diseases (Photo courtesy of Cepheid)

Cepheid and Oxford Nanopore Technologies Partner on Advancing Automated Sequencing-Based Solutions

Cepheid (Sunnyvale, CA, USA), a leading molecular diagnostics company, and Oxford Nanopore Technologies (Oxford, UK), the company behind a new generation of sequencing-based molecular analysis technologies,... Read more
Copyright © 2000-2025 Globetech Media. All rights reserved.