The APOL1 p.N264K variant is co-inherited with the G2 kidney disease risk variant through a proximity recombination event.

Black Americans are three to four times more likely to develop nondiabetic kidney disease than other populations. Exclusively found in people of recent African (AFR) ancestry, risk variants in Apolipoprotein L1 (APOL1) termed G1 and G2 contribute significantly to this increased susceptibility. Our group and others showed that a missense variant in APOL1, rs73885316 (p.

Blood methylation biomarkers are associated with diabetic kidney disease progression in type 1 diabetes.

Background: DNA methylation differences are associated with kidney function and diabetic kidney disease (DKD), but prospective studies are scarce. Therefore, we aimed to study DNA methylation in a prospective setting in the Finnish Diabetic Nephropathy Study type 1 diabetes (T1D) cohort.

Methods: We analysed baseline blood sample-derived DNA methylation (Illumina's EPIC array) of 403 individuals with normal albumin excretion rate (early progression group) and 373 individuals with severe albuminuria (late progression group) and followed-up their DKD progression defined as decrease in eGFR to <60 mL/min/1.

Representing DNA for machine learning algorithms: A primer on one-hot, binary, and integer encodings.

This short paper presents an educational approach to teaching three popular methods for encoding DNA sequences: one-hot encoding, binary encoding, and integer encoding. Aimed at bioinformatics and computational biology students, our learning intervention focuses on developing practical skills in implementing these essential techniques for efficient representation and analysis of genetic data. The primary goal of this study is to enhance students' understanding and practical application of DNA encoding methods, which are crucial for various computational analyses in bioinformatics.

Pancreatic volume, fat content and T1 relaxation time using magnetic resonance imaging in patients with prior gestational diabetes mellitus.

Purpose: To compare the volume, fat content, and T1 relaxation time of the pancreas in participants with and without prior gestational diabetes mellitus (GDM).

Methods: In this prospective case-control study, we enrolled 29 women with prior GDM, and divided them into three groups (normoglycemic, prediabetic, and diabetic) based on their glycaemic status in the postpartum period; and a group of 13 participants as controls who had normoglycemia during pregnancy. Participants underwent MR examination including an axial multi-echo DIXON-based sequence and an axial-oblique T1 mapping sequence.