Predicting risk of Alzheimer’s disease using polygenic risk scores developed for Parkinson’s disease DOI Creative Commons
Britney E. Graham, Scott M. Williams, Jason H. Moore

et al.

medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2023, Volume and Issue: unknown

Published: Aug. 21, 2023

Abstract Background and Objectives The two most common neurodegenerative diseases are Alzheimer’s disease (AD) Parkinson’s (PD), both related to age affect millions of people across the world, especially as life expectancy increases in certain countries. Here, we explore potential predictiveness genetic risk AD PD separately then extent underlying shared genetics PD. Methods population estimates for were derived using a previously developed specific polygenic score (psPRS) regression-based SNP filtering method. To test overlap between PD, ran regression psPRSs versus prevalences filtered unfiltered PRS vice versa. We assessed gene-gene interaction pathway involvement KnowledgeBase ( AlzKB ) STRINGdb, respectively. Results psPRS was moderately predictive, while not. After filtering, improved strongly explained variation. ability predict versa, is poor. However, AD, highly predictive. Discussion Our results suggest that there correlation allele frequency prevalence, well an generally. better predictor than AD. call further research into general disease, despite previous lack evidence.

Language: Английский

Chromosome study of the Hymenoptera (Insecta): from cytogenetics to cytogenomics DOI Creative Commons
Vladimir E. Gokhman

Comparative Cytogenetics, Journal Year: 2023, Volume and Issue: 17, P. 239 - 250

Published: Nov. 1, 2023

A brief overview of the current stage chromosome study insect order Hymenoptera is given. It demonstrated that, in addition to routine staining and other traditional techniques research, karyotypes an increasing number hymenopterans are being studied using molecular methods, e.g., with base-specific fluorochromes fluorescence situ hybridization (FISH), including microdissection painting. Due advent whole genome sequencing techniques, together “big data” approach chromosomal data, research on represents a transition from cytogenetics cytogenomics.

Language: Английский

Citations

1

Smaller, denser, smarter: improved Strand-seq library preparation, inversion genotyping, and phasing DOI Open Access
Vincent C. T. Hanlon

Published: Feb. 7, 2023

Although DNA consists of two paired strands that run in opposite directions, conventional sequencing ignores this directional information. But the direction can be used to distinguish different versions genes (“alleles”) inherited from each parents, as well detect inversions—regions are reversed some individuals. In thesis, I first describe an improved laboratory protocol for existing method, called Strand-seq. The key is using volumes reagents small one billionth a liter makes main chemical reaction more efficient. Second, present reproducible and automated way find inversions data. This new method particularly useful identifying were previously difficult detect. Third, show how individual determine which half was mother father, without any data parents. requires incorporating information about variable modifications epigenetic marks. future, may identify side patient’s family at risk disease when parents not available genetic testing.

Language: Английский

Citations

0

Does social antagonism facilitate supergene expansion? A novel region of suppressed recombination in a 4-haplotype supergene system DOI Creative Commons
Giulia Scarparo, Marie Palanchon, Alan Brelsford

et al.

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2023, Volume and Issue: unknown

Published: April 1, 2023

Abstract Models of both sex chromosome evolution and the genetic basis local adaptation suggest that selection acts to lock beneficial combinations alleles together in regions reduced or suppressed recombination. Drawing inspiration from such models, we apply similar logic investigate whether an autosomal supergene underlying colony social organization ants expanded include “socially antagonistic” alleles. We tested this premise a Formica ant species wherein identified four haplotypes on 3 ratio. Remarkably, discovered novel rearranged variant (9r) 9 queen miniaturization. The 9r is tightly linked one (P 2 ) 3, found predominantly multi-queen (polygyne) colonies. miniaturization strongly disfavored single (monogyne) background, thus socially antagonistic. As such, divergent experienced by living alternative ‘environments’ (monogyne polygyne) may have contributed emergence polymorphism associated size dimorphism. Consequently, ancestral polygyne-associated haplotype 9, resulting larger region recombination spanning two chromosomes. This process analogous formation neo-sex chromosomes consistent with models expanding also propose miniaturized queens, 16-20% smaller than queens without 9r, could be incipient intraspecific parasites. Significance statement When sets gene variants work well together, lead reduction between them. Here, discover controls previously undescribed cinerea ants. small because successful but not single-queen environment.

Language: Английский

Citations

0

Predicting risk of Alzheimer’s disease using polygenic risk scores developed for Parkinson’s disease DOI Creative Commons
Britney E. Graham, Scott M. Williams, Jason H. Moore

et al.

medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2023, Volume and Issue: unknown

Published: Aug. 21, 2023

Abstract Background and Objectives The two most common neurodegenerative diseases are Alzheimer’s disease (AD) Parkinson’s (PD), both related to age affect millions of people across the world, especially as life expectancy increases in certain countries. Here, we explore potential predictiveness genetic risk AD PD separately then extent underlying shared genetics PD. Methods population estimates for were derived using a previously developed specific polygenic score (psPRS) regression-based SNP filtering method. To test overlap between PD, ran regression psPRSs versus prevalences filtered unfiltered PRS vice versa. We assessed gene-gene interaction pathway involvement KnowledgeBase ( AlzKB ) STRINGdb, respectively. Results psPRS was moderately predictive, while not. After filtering, improved strongly explained variation. ability predict versa, is poor. However, AD, highly predictive. Discussion Our results suggest that there correlation allele frequency prevalence, well an generally. better predictor than AD. call further research into general disease, despite previous lack evidence.

Language: Английский

Citations

0