Single nucleotide polymorphism

From MEpedia, a crowd-sourced encyclopedia of ME and CFS science and history

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.