{"id":6743,"date":"2012-10-09T14:54:38","date_gmt":"2012-10-09T18:54:38","guid":{"rendered":"http:\/\/www.bumc.bu.edu\/busm\/?p=3179"},"modified":"2012-10-09T14:54:38","modified_gmt":"2012-10-09T18:54:38","slug":"busm-study-investigates-genetic-variants-role-in-increasing-parkinsons-disease-risk","status":"publish","type":"post","link":"https:\/\/www.bumc.bu.edu\/camed\/2012\/10\/09\/busm-study-investigates-genetic-variants-role-in-increasing-parkinsons-disease-risk\/","title":{"rendered":"BUSM Study Investigates Genetic Variants\u2019 Role in Increasing Parkinson\u2019s Disease Risk"},"content":{"rendered":"<p>Boston University School of Medicine (BUSM) investigators have led  the first genome-wide evaluation of genetic variants associated with  Parkinson\u2019s disease (PD). The study, which is published online in <em>PLOS ONE<\/em>, points to the involvement of specific genes and alterations in their expression as influencing the risk for developing PD.<\/p>\n<p>Jeanne Latourelle, DSc, assistant professor of neurology at BUSM,  served as the study\u2019s lead author and Richard H. Myers, PhD, professor  of neurology at BUSM, served as the study\u2019s principal investigator and  senior author.<\/p>\n<p>A recent paper by the PD Genome Wide Association Study Consortium  (PDGC) confirmed that an increased risk for PD was seen in individuals  with genetic variants in or near the genes SNCA, MAPT, GAK\/DGKQ, HLA and  RIT2, but the mechanism behind the increased risk was not determined.<\/p>\n<p>\u201cOne possible effect of the variants would be to change the manner in  which a gene is expressed in the brains, leading to increased risk of  PD,\u201d said Latourelle.<\/p>\n<p>To investigate the theory, the researchers examined the relationship  between PD-associated genetic variants and levels of gene expression in  brain samples from the frontal cortex of 26 samples with known PD and 24  neurologically healthy control samples. Gene expression was determined  using a microarray that screened effects of genetic variants on the  expression of genes located very close to the variant, called  cis-effects, and genes that are far from the variant, such as those on a  completely different chromosome, called trans-effects.<\/p>\n<p>An analysis of the cis-effects showed that several genetic variants  in the MAPT region showed a significant association to the expression of  multiple nearby genes, including gene LOC644246, the duplicated genes  LRRC37A and LRRC37A2 and the gene DCAKD. Significant cis-effects were  also observed between variants in the HLA region on chromosome 6 and two  nearby genes HLA-DQA1 and HLA-DQA1. An examination of trans-effects  revealed 23 DNA sequence variations that reached statistical  significance involving variants from the SNCA, MAPT and RIT2 genes.<\/p>\n<p>\u201cThe identification of the specific altered genes in PD opens  opportunities to further study them in model organisms or cell lines  with the goal of identifying drugs which may rectify the defects as  treatment for PD,\u201d said Myers.<\/p>\n<p>This study was funded by the Cogan Family Foundation, the Bumpus  Foundation and the National Institute of Neurological Disorders and  Stroke (NINDS) under award number PHS-NS076843.<\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Boston University School of Medicine (BUSM) investigators have led the first genome-wide evaluation of genetic variants associated with Parkinson\u2019s disease (PD). The study, which is published online in PLOS ONE, points to the involvement of specific genes and alterations in their expression as influencing the risk for developing PD. Jeanne Latourelle, DSc, assistant professor of [&hellip;]<\/p>\n","protected":false},"author":903,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":[],"categories":[1],"tags":[],"_links":{"self":[{"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/posts\/6743"}],"collection":[{"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/users\/903"}],"replies":[{"embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/comments?post=6743"}],"version-history":[{"count":0,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/posts\/6743\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/media?parent=6743"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/categories?post=6743"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/tags?post=6743"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}