JP2020178537A5 - - Google Patents

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JP2020178537A5
JP2020178537A5 JP2019081655A JP2019081655A JP2020178537A5 JP 2020178537 A5 JP2020178537 A5 JP 2020178537A5 JP 2019081655 A JP2019081655 A JP 2019081655A JP 2019081655 A JP2019081655 A JP 2019081655A JP 2020178537 A5 JP2020178537 A5 JP 2020178537A5
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genotype
epilepsy
data
humans
negatively correlated
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JP2019081655A
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JP2020178537A (en
JP7107883B2 (en
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てんかんに罹患したヒトの遺伝子型データと、てんかんに罹患していないヒトの遺伝子型データと、を学習データとして用いて機械学習したモデルを用いて、てんかんと正の相関があるrs10830962、rs1497406、及びrs7068966と、てんかんと負の相関があるrs9388451、rs8066114、及びrs3847554と、てんかんに正の相関又は負の相関があるrs2000999及びrs10770612と、を少なくとも含む一塩基多型セットの遺伝子型情報であって、 Using a machine-learned model using genotype data from humans with epilepsy and genotype data from humans without epilepsy as training data, there is a positive correlation with epilepsy, rs10830962, rs1497406, and Genotype information for a single-base polymorphic set containing at least rs7068966, rs9388451, rs8066114, and rs3847554, which are negatively correlated with epilepsy, and rs2000999 and rs10770612, which are positively or negatively correlated with epilepsy.
rs10830962の遺伝子型がGC、rs1497406の遺伝子型がTC、rs7068966の遺伝子型がTC、rs2000999の遺伝子型がAG、rs10770612の遺伝子型がAA、rs9388451の遺伝子型がTC、rs2000999の遺伝子型がGG、rs10770612の遺伝子型がAG、rs8066114の遺伝子型がCC、及びrs3847554の遺伝子型がTTであるか否かに関する遺伝子型情報に基づいて、てんかんのリスクを判定する、方法。 rs10830962 genotype is GC, rs1497406 genotype is TC, rs7068966 genotype is TC, rs2000999 genotype is AG, rs10770612 genotype is AA, rs9388451 genotype is TC, rs2000999 genotype is GG, rs10770612 A method for determining the risk of epilepsy based on genotype information regarding whether or not the genotype of rs8066114 is CC, and the genotype of rs3847554 is TT. リスクの判定を受ける対象者の体液サンプル、細胞サンプル又は体毛を用いる、請求項１に記載の方法。The method according to claim 1, wherein a body fluid sample, a cell sample, or hair of a subject who receives a risk determination is used.
JP2019081655A 2019-04-23 2019-04-23 How to Determine Epilepsy Risk Active JP7107883B2 (en)

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JP2019081655A JP7107883B2 (en) 2019-04-23 2019-04-23 How to Determine Epilepsy Risk

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JP2019081655A JP7107883B2 (en) 2019-04-23 2019-04-23 How to Determine Epilepsy Risk

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JP2020178537A JP2020178537A (en) 2020-11-05
JP2020178537A5 true JP2020178537A5 (en) 2022-03-15
JP7107883B2 JP7107883B2 (en) 2022-07-27

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Family Cites Families (11)

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JP2004173505A (en) 2002-11-22 2004-06-24 Mitsuo Itakura Method for identifying disease-susceptible gene and program and system used therefor
JP2004275115A (en) 2003-03-18 2004-10-07 Institute Of Physical & Chemical Research Mutation of scn2a gene in intractable childhood epilepsy accompanied by involution of critical mental faculty
KR101325736B1 (en) 2010-10-27 2013-11-08 삼성에스디에스 주식회사 Apparatus and method for extracting bio markers
EP2492354A1 (en) 2011-02-23 2012-08-29 Institut National De La Recherche Agronomique (INRA) Method for identifying compounds useful in the treatment of photosensitive reflex epilepsy
JP5899527B2 (en) 2011-03-14 2016-04-06 国立研究開発法人理化学研究所 Method for examining drug eruption risk with antiepileptic drugs based on single nucleotide polymorphism of chromosome 13 short arm 21.33 region
WO2013129542A1 (en) 2012-02-29 2013-09-06 独立行政法人理化学研究所 Method for detecting hla-a*31:01 allele
JP2014018137A (en) 2012-07-18 2014-02-03 Japan Health Sciences Foundation Snp marker for diagnosis of immune-mediated epilepsy, method of using the same, and examination kit for immune-mediated epilepsy
EP2792754A1 (en) 2013-04-19 2014-10-22 UCB Pharma, S.A. Biomarkers for epilepsy
US20160115543A1 (en) 2013-05-29 2016-04-28 The Arizona Board Of Regents On Behalf Of The University Of Arizona Neurosurgical Genomics
JP6480704B2 (en) 2014-10-30 2019-03-13 公益財団法人ヒューマンサイエンス振興財団 Diagnostic kit for immune-mediated epilepsy
WO2017096375A1 (en) 2015-12-04 2017-06-08 New York University Identification of epilepsy patients at increased risk from sudden unexpected death in epilepsy

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