{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T18:43:57Z","timestamp":1748371437821},"reference-count":44,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,5,20]],"date-time":"2004-05-20T00:00:00Z","timestamp":1085011200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2004,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Molecular genetic studies have suggested a reading disability (RD, dyslexia) susceptibility locus on chromosome 15q. We have previously mapped this locus by association to the region surrounding D15S994. Very little is known about the neurobiological processes involved in RD, and therefore selecting positional candidate genes for analysis based upon function is difficult. Nevertheless we were able to identify two functional candidates based upon existing hypotheses. Both were phospholipase genes, <jats:italic>phospholipase C \u03b2 2<\/jats:italic> (<jats:italic>PLCB2<\/jats:italic>) and <jats:italic>phospholipase A<jats:sub>2<\/jats:sub>, group IVB<\/jats:italic> (<jats:italic>cytosolic; PLA2G4B<\/jats:italic>). D15S944 is located within <jats:italic>PLCB2<\/jats:italic> and is 1.6 Mb from <jats:italic>PLA2G4B<\/jats:italic>. We examined each gene for association using a mixed direct and indirect association approach, a case (n\u2009=\u2009164)\/control (n\u2009=\u2009174) sample, and a partially overlapping sample of 178 RD parent\u2010proband trios from South Wales and England. Mutation analysis revealed 14 sequence variants in <jats:italic>PLCB2<\/jats:italic> and 33 variants in <jats:italic>PLA2G4B<\/jats:italic>. All non\u2010synonymous SNPs were genotyped as were SNPs across each gene with maximum distance between SNPs of 6 kb. Case\u2010control analyses revealed modest evidence (0.01\u2009&lt;\u2009<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.05) for association between a single variant in <jats:italic>PLCB2<\/jats:italic> and two variants in <jats:italic>PLA2G4B<\/jats:italic>. However, association was not confirmed in the family based sample. As the latter sample has previously generated replicated significant evidence for association between RD and markers\/haplotypes surrounding D15S944, it should have sufficient power to detect association to variants in susceptibility gene itself. We conclude that neither gene accounts for the association signal we previously observed. As these are the only clear cut functional candidate genes in the region, identification of the putative susceptibility locus for RD on 15q will require more methodical non\u2010hypothesis driven positional cloning approaches. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.30033","type":"journal-article","created":{"date-parts":[[2004,5,20]],"date-time":"2004-05-20T21:03:29Z","timestamp":1085087009000},"page":"97-103","source":"Crossref","is-referenced-by-count":12,"title":["Association analysis of two candidate phospholipase genes that map to the chromosome 15q15.1\u201015.3 region associated with reading disability"],"prefix":"10.1002","volume":"129B","author":[{"given":"D.W.","family":"Morris","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Ivanov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Williams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Stevenson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.J.","family":"Owen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Williams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.C.","family":"O'Donovan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,5,20]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7939663"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7777847"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/302577"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/329537a0"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1388-1981(00)00108-6"},{"key":"e_1_2_6_7_1","first-page":"664","article-title":"A new gene (DYX3) for dyslexia is located on chromosome 2","volume":"36","author":"Fagerheim T","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1976.tb00161.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/302190"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng792"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/00041444-200203000-00005"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/302191"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00354958"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01067536"},{"key":"e_1_2_6_15_1","first-page":"27","article-title":"Susceptibility loci for distinct components of developmental dyslexia on chromosomes 6 and 15","volume":"60","author":"Grigorenko EL","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/302755"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1388-1981(00)00115-3"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1054\/plef.1999.0027"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/45.8.1133"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.5.340"},{"key":"e_1_2_6_21_1","first-page":"23","article-title":"Automated genotyping of single\u2010nucleotide polymorphisms by extension of fluorescently labelled primers: Analysis of individual and pooled DNA samples","volume":"3","author":"Kirov G","year":"2000","journal-title":"Balkan Journal of Medical Genetics"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1054\/plef.2000.0189"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.5.843"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.4.2184"},{"key":"e_1_2_6_25_1","unstructured":"NealeMD.Neale analysis of reading ability. 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