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Single nucleotide polymorphism
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{{stub}} A '''single nucleotide polymorphism''' (SNP) is a potential genetic mutation that occurs in a single spot in the human genome.<ref>{{Cite web|url=https://ghr.nlm.nih.gov/primer/genomicresearch/snp | title = What are single nucleotide polymorphisms (SNPs)? | last = Genetics Home Reference | first = | author-link =| date = |website=Genetics Home Reference|language=en|archive-url=|archive-date=|url-status=|access-date=2019-10-03}}</ref> 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".<ref>{{Cite web|url=https://www.snpedia.com/index.php/Rs53576 | title = rs53576 - SNPedia|website=snpedia.com|access-date=2019-10-06}}</ref> == Autoimmune == A 2020 study found two autoimmune-related SNPs associated with ME/CFS patients with an infectious onset.<ref>{{Cite journal | last = Steiner | first = Sophie | last2 = Becker | first2 = Sonya C. | last3 = Hartwig | first3 = Jelka | last4 = Sotzny | first4 = Franziska | last5 = Lorenz | first5 = Sebastian | last6 = Bauer | first6 = Sandra | last7 = LΓΆbel | first7 = Madlen | last8 = Stittrich | first8 = Anna B. | last9 = Grabowski | first9 = Patricia | date = 2020 | title=Autoimmunity-Related Risk Variants in PTPN22 and CTLA4 Are Associated With ME/CFS With Infectious Onset|url=https://www.frontiersin.org/articles/10.3389/fimmu.2020.00578/full|journal=Frontiers in Immunology|language=English|volume=11|doi=10.3389/fimmu.2020.00578|issn=1664-3224}}</ref> '''PTPN22 rs2476601''' aka R620W or C1858T (OR 1.63, CI 1.04β2.55, p = 0.016) - ''PTPNN22 (Tyrosine phosphatase non-receptor type 22)'' '''CTLA4 rs3087243''' (OR 1.53, CI 1.17β2.03, 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.<ref>{{Cite journal | last = Lee | first = Hye-Soon | last2 = Kang | first2 = Jungoo | last3 = Yang | first3 = Seiwon | last4 = Kim | first4 = Dukhee | last5 = Park | first5 = Yongsoo | date = Nov 2011 | title = Susceptibility influence of a PTPN22 haplotype with thyroid autoimmunity in Koreans|url=https://pubmed.ncbi.nlm.nih.gov/22069277/|journal=Diabetes/Metabolism Research and Reviews|volume=27|issue=8 | pages = 878β882|doi=10.1002/dmrr.1265|issn=1520-7560|pmid=22069277|pmc=|quote=|access-date=|via=}}</ref><ref>{{Cite journal | last = Chen | first = Yu-Fu | last2 = Chang | first2 = Jeffrey S. | date = Aug 2012 | title = PTPN22 C1858T and the risk of psoriasis: a meta-analysis|url=https://pubmed.ncbi.nlm.nih.gov/22544573/|journal=Molecular Biology Reports|volume=39|issue=8 | pages = 7861β7870|doi=10.1007/s11033-012-1630-z|issn=1573-4978|pmid=22544573|pmc=|quote=|access-date=|via=}}</ref><ref>{{Cite journal | last = Steck | first = AK | last2 = Baschal | first2 = EE | last3 = Jasinski | first3 = JM | last4 = Boehm | first4 = BO | last5 = Bottini | first5 = N | last6 = Concannon | first6 = P | last7 = Julier | first7 = C | last8 = Morahan | first8 = G | last9 = Noble | first9 = JA | date = Dec 2009 | title = rs2476601 T allele (R620W) defines high-risk PTPN22 type I diabetes-associated haplotypes with preliminary evidence for an additional protective haplotype|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2805459/|journal=Genes and immunity|volume=10|issue=Suppl 1|pages=S21βS26|doi=10.1038/gene.2009.87|issn=1466-4879|pmc=2805459|pmid=19956096|quote=|access-date=|via=}}</ref> == Learn more == * [https://www.snpedia.com/index.php/Glossary SNPedia's glossary] * [https://learngendev.azurewebsites.net/content/precision/snips/ Genetic Science Learning Center] ==References == {{reflist}} [[Category:Biochemistry and cell biology]]
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