Single nucleotide polymorphism

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A single nucleotide polymorphism (SNP) is a potential genetic mutation that occurs in a single spot in the human genome.[1] A single spot in the human genome is represented physically by a particular nucleotide base-pair in the DNA, such as cytosine-guanine or adenine-thymine. For example, 60% of the general population may have a cytosine-guanine base pair at a particular location in their DNA, but 40% of the population may have a adenine-thymine base pair at that location instead. SNP's are often represented by an "rs" number, such as "rs53576".[2]

Autoimmune[edit | edit source]

A 2020 study found two autoimmune-related SNPs associated with ME/CFS patients with an infectious onset.[3]

PTPN22 rs2476601 aka R620W or C1858T (OR 1.63, CI 1.04–2.55, p = 0.016) - PTPNN22 (Tyrosine phosphatase non-receptor type 22)

CTLA4 rs3087243 (OR 1.53, CI 1.17–2.03, p = 0.001) - CTLA4 (Cytotoxic T-lymphocyte-associated protein 4)

PTPN22 rs2476601 has been found in multiple autoimmune diseases including Hashimoto's thyroiditis, psoriasis, and Type I diabetes.[4][5][6]

Learn more[edit | edit source]

References[edit | edit source]

  1. Genetics Home Reference. "What are single nucleotide polymorphisms (SNPs)?". Genetics Home Reference. Retrieved October 3, 2019.
  2. "rs53576 - SNPedia". Retrieved October 6, 2019.
  3. Steiner, Sophie; Becker, Sonya C.; Hartwig, Jelka; Sotzny, Franziska; Lorenz, Sebastian; Bauer, Sandra; Löbel, Madlen; Stittrich, Anna B.; Grabowski, Patricia (2020). "Autoimmunity-Related Risk Variants in PTPN22 and CTLA4 Are Associated With ME/CFS With Infectious Onset". Frontiers in Immunology. 11. doi:10.3389/fimmu.2020.00578. ISSN 1664-3224.
  4. Lee, Hye-Soon; Kang, Jungoo; Yang, Seiwon; Kim, Dukhee; Park, Yongsoo (November 2011). "Susceptibility influence of a PTPN22 haplotype with thyroid autoimmunity in Koreans". Diabetes/Metabolism Research and Reviews. 27 (8): 878–882. doi:10.1002/dmrr.1265. ISSN 1520-7560. PMID 22069277.
  5. Chen, Yu-Fu; Chang, Jeffrey S. (August 2012). "PTPN22 C1858T and the risk of psoriasis: a meta-analysis". Molecular Biology Reports. 39 (8): 7861–7870. doi:10.1007/s11033-012-1630-z. ISSN 1573-4978. PMID 22544573.
  6. Steck, AK; Baschal, EE; Jasinski, JM; Boehm, BO; Bottini, N; Concannon, P; Julier, C; Morahan, G; Noble, JA (December 2009). "rs2476601 T allele (R620W) defines high-risk PTPN22 type I diabetes-associated haplotypes with preliminary evidence for an additional protective haplotype". Genes and immunity. 10 (Suppl 1): S21–S26. doi:10.1038/gene.2009.87. ISSN 1466-4879. PMC 2805459. PMID 19956096.

single nucleotide polymorphism (SNP) - A single nucleotide polymorphism (SNP, pronounced "snip") is a potential genetic mutation that occurs in a single spot in the human genome; a difference in a single DNA building block. SNPs are often represented by an "rs" number, such as "rs53576".

genome an organism's complete set of DNA, including all of its genes

The information provided at this site is not intended to diagnose or treat any illness.
From MEpedia, a crowd-sourced encyclopedia of ME and CFS science and history.