{"id":21255,"date":"2019-05-31T07:02:23","date_gmt":"2019-05-31T07:02:23","guid":{"rendered":"https:\/\/wames.org.uk\/cms-english\/?p=21255"},"modified":"2019-05-31T07:02:23","modified_gmt":"2019-05-31T07:02:23","slug":"genetic-predisposition-for-immune-system-hormone-metabolic-dysfunction-in-me-cfs","status":"publish","type":"post","link":"https:\/\/wames.org.uk\/cms-english\/genetic-predisposition-for-immune-system-hormone-metabolic-dysfunction-in-me-cfs\/","title":{"rendered":"Genetic predisposition for immune system, hormone, & metabolic dysfunction in ME\/CFS"},"content":{"rendered":"

Genetic predisposition for immune system, hormone, and metabolic dysfunction in Myalgic Encephalomyelitis\/Chronic Fatigue Syndrome: a pilot study<\/a>, by Melanie Perez,\u00a0 Rajeev Jaundoo,\u00a0 Kelly Hilton,\u00a0 Ana Del Alamo,\u00a0 Kristina Gemayel,\u00a0 Nancy G. Klimas,\u00a0 Travis J A Craddock and\u00a0 Lubov Nathanson in<\/span> Front. Pediatr<\/em>., 24 May 2019 [https:\/\/doi.org\/10.3389\/fped.2019.00206]<\/h3>\n

 <\/p>\n

Introduction:<\/strong><\/p>\n

\"\"<\/a>

SNP model by David Eccles, Wiki commons<\/p><\/div>\n

Myalgic Encephalomyelitis\/ Chronic Fatigue Syndrome (ME\/CFS) is a multifactorial illness of unknown etiology with considerable social and economic impact. To investigate a putative genetic predisposition to ME\/CFS we conducted genome-wide<\/a> single-nucleotide polymorphism (SNP) analysis<\/a> to identify possible variants.<\/p>\n

Methods:<\/strong>
\n383 ME\/CFS participants underwent DNA testing using the commercial company\u00a023andMe. The deidentified genetic data was then filtered to include only non-synonymous and nonsense SNPs from exons and microRNAs, and SNPs close to splice sites. The frequencies of each SNP were calculated within our cohort and compared to frequencies from the Kaviar reference database. Functional annotation of pathway sets containing SNP genes with high frequency in ME\/CFS was performed using over-representation analysis via ConsensusPathDB. Furthermore, these SNPs were also scored using the Combined Annotation Dependent Depletion (CADD) algorithm to gauge their deleteriousness.<\/p>\n

Results:<\/strong>
\n5693 SNPs were found to have at least 10% frequency in at least one cohort (ME\/CFS or reference) and at least two-fold absolute difference for ME\/CFS. Functional analysis identified the majority of SNPs as related to immune system, hormone, metabolic, and extracellular matrix organization. CADD scoring identified 517 SNPs in these pathways that are among the 10% most deleteriousness substitutions to the human genome.<\/p>\n","protected":false},"excerpt":{"rendered":"

Genetic predisposition for immune system, hormone, and metabolic dysfunction in Myalgic Encephalomyelitis\/Chronic Fatigue Syndrome: a pilot study, by Melanie Perez,\u00a0 Rajeev Jaundoo,\u00a0 Kelly Hilton,\u00a0 Ana Del Alamo,\u00a0 Kristina Gemayel,\u00a0 Nancy G. Klimas,\u00a0 Travis J A Craddock and\u00a0 Lubov Nathanson in … Continue reading →<\/span><\/a><\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"jetpack_post_was_ever_published":false,"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_publicize_message":"","jetpack_publicize_feature_enabled":true,"jetpack_social_post_already_shared":true,"jetpack_social_options":{"image_generator_settings":{"template":"highway","default_image_id":0,"font":"","enabled":false},"version":2}},"categories":[1],"tags":[5101,1878,2497,5103,383,5100,5102,4546,5098,1261,5099,1185,1186,4915],"class_list":["post-21255","post","type-post","status-publish","format-standard","hentry","category-news","tag-ana-del-alamo","tag-dr-nancy-klimas","tag-genetic-predisposition","tag-hormone-genes","tag-immune-system","tag-kelly-hilton","tag-kristina-gemayel","tag-lubov-nathanson","tag-melanie-perez","tag-metabolism","tag-rajeev-jaundoo","tag-single-nucleotide-polymorphism","tag-snps","tag-travis-ja-craddock"],"jetpack_publicize_connections":[],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"jetpack_shortlink":"https:\/\/wp.me\/p5qkYK-5wP","_links":{"self":[{"href":"https:\/\/wames.org.uk\/cms-english\/wp-json\/wp\/v2\/posts\/21255","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/wames.org.uk\/cms-english\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/wames.org.uk\/cms-english\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/wames.org.uk\/cms-english\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/wames.org.uk\/cms-english\/wp-json\/wp\/v2\/comments?post=21255"}],"version-history":[{"count":5,"href":"https:\/\/wames.org.uk\/cms-english\/wp-json\/wp\/v2\/posts\/21255\/revisions"}],"predecessor-version":[{"id":21324,"href":"https:\/\/wames.org.uk\/cms-english\/wp-json\/wp\/v2\/posts\/21255\/revisions\/21324"}],"wp:attachment":[{"href":"https:\/\/wames.org.uk\/cms-english\/wp-json\/wp\/v2\/media?parent=21255"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/wames.org.uk\/cms-english\/wp-json\/wp\/v2\/categories?post=21255"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/wames.org.uk\/cms-english\/wp-json\/wp\/v2\/tags?post=21255"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}