rs2240340
Variant in the PAD4 gene (Peptidyl Arginine Deiminase 4)
rs2240340 is a single nucleotide polymorphism (SNP) in the PAD4 gene, involved in neutrophil extracellular traps. Variants at this position have been studied in relation to immune function, metabolism, and chronic illness.
This page is for educational and informational purposes only. Not a diagnostic tool. Always consult a qualified healthcare provider.
What is the rs2240340 variant?
rs2240340 is a SNP (single nucleotide polymorphism) in the PAD4 (Peptidyl Arginine Deiminase 4) gene. It belongs to the Innate Immunity category and is part of the Coagulation & Vascular biological cluster. PAD4 catalyzes citrullination of histones (H3Cit4) during NETosis, converting arginine residues to citrulline. This modification is essential for chromatin decondensation and NET release by activated neutrophils.
Biological role and pathway
This variant sits within the PAD4 gene, which is involved in the neutrophil extracellular traps pathway. Genes within the Coagulation & Vascular cluster work together to maintain balanced function across interconnected biological systems.
Variants in genes within this pathway may influence an individual's predisposition to altered function — particularly under conditions of physiological stress such as viral infection or prolonged illness.
rs2240340 and Long COVID / ME-CFS research
NET formation is elevated in COVID-19 and persists in Long COVID, contributing to microthrombi formation. PAD4 variants affecting NETosis intensity may influence the degree of coagulopathy and vascular inflammation in post-COVID syndrome.
This information is based on published research and does not constitute medical advice. See references below.
Parent gene: PAD4
rs2240340 is one of 3 known variants in the PAD4 gene. To understand the full biological context of this variant, explore the parent gene page.
View PAD4 gene page →Conditions studied in relation to rs2240340
Research into PAD4 variants including rs2240340 has explored associations with the following conditions. These are areas of scientific investigation and do not imply causation.
Genetic insights from DNA data
Consumer DNA files from 23andMe, AncestryDNA, and MyHeritage contain raw SNP data. When you upload your file to ChronicDNA, the analysis engine checks your genotype against a curated panel of 80+ genes selected for their relevance to Long COVID, ME/CFS, and connected biological pathways - some of which may include PAD4 and the rs2240340 variant.
The report is educational - it explains which variants you carry, what the research says about them, and how they fit into the biological pathways most relevant to chronic illness. Results are presented in plain English with appropriate scientific context, no medical jargon, no scare tactics. All results should be discussed with a qualified healthcare provider.
Other variants in the PAD4 gene
The following variants in PAD4 are also studied in relation to chronic illness and may be analysed together for a more complete picture.
Frequently asked questions
What is the rs2240340 variant in the PAD4 gene?
rs2240340 is a single nucleotide polymorphism (SNP) located in the PAD4 (Peptidyl Arginine Deiminase 4) gene, which is involved in neutrophil extracellular traps. PAD4 catalyzes citrullination of histones (H3Cit4) during NETosis, converting arginine residues to citrulline. This modification is essential for chromatin decondensation and NET release by activated neutrophils.
How may the rs2240340 variant relate to Long COVID or ME/CFS?
NET formation is elevated in COVID-19 and persists in Long COVID, contributing to microthrombi formation. PAD4 variants affecting NETosis intensity may influence the degree of coagulopathy and vascular inflammation in post-COVID syndrome.
Can a consumer DNA test detect the rs2240340 variant?
Many consumer DNA tests such as 23andMe, AncestryDNA, and MyHeritage genotype common SNPs. ChronicDNA analyses your raw DNA file and reports on variants studied in relation to chronic illness, immune function, and metabolism. This is not a diagnostic service — results are informational and educational only.
Find out if you carry the rs2240340 variant
Upload your DNA data from 23andMe, AncestryDNA, or MyHeritage and receive a personalised report covering >80 genes relevant to Long COVID and ME/CFS.
Get Your Personalised DNA ReportInformational and educational only · Not a diagnostic tool · GDPR compliant
References
The following publications were used in compiling the research context for PAD4 and its variants. This is not an exhaustive literature review.
- [1]PMID: 28768171
- [2]Nature Medicine
- [3]Blood