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Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach

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Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach. / Abdulkadir, Mohamed; Londono, Douglas; Gordon, Derek; Fernandez, Thomas V; Brown, Lawrence W; Cheon, Keun-Ah; Coffey, Barbara J; Elzerman, Lonneke; Fremer, Carolin; Fründt, Odette; Garcia-Delgar, Blanca; Gilbert, Donald L; Grice, Dorothy E; Hedderly, Tammy; Heyman, Isobel; Hong, Hyun Ju; Huyser, Chaim; Ibanez-Gomez, Laura; Jakubovski, Ewgeni; Kim, Young Key; Kim, Young Shin; Koh, Yun-Joo; Kook, Sodahm; Kuperman, Samuel; Leventhal, Bennett; Ludolph, Andrea G; Madruga-Garrido, Marcos; Maras, Athanasios; Mir, Pablo; Morer, Astrid; Müller-Vahl, Kirsten; Münchau, Alexander; Murphy, Tara L; Plessen, Kerstin J; Roessner, Veit; Shin, Eun-Young; Song, Dong-Ho; Song, Jungeun; Tübing, Jennifer; van den Ban, Els; Visscher, Frank; Wanderer, Sina; Woods, Martin; Zinner, Samuel H; King, Robert A; Tischfield, Jay A; Heiman, Gary A; Hoekstra, Pieter J; Dietrich, Andrea.

in: EUR ARCH PSY CLIN N, Jahrgang 268, Nr. 3, 04.2018, S. 301-316.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Abdulkadir, M, Londono, D, Gordon, D, Fernandez, TV, Brown, LW, Cheon, K-A, Coffey, BJ, Elzerman, L, Fremer, C, Fründt, O, Garcia-Delgar, B, Gilbert, DL, Grice, DE, Hedderly, T, Heyman, I, Hong, HJ, Huyser, C, Ibanez-Gomez, L, Jakubovski, E, Kim, YK, Kim, YS, Koh, Y-J, Kook, S, Kuperman, S, Leventhal, B, Ludolph, AG, Madruga-Garrido, M, Maras, A, Mir, P, Morer, A, Müller-Vahl, K, Münchau, A, Murphy, TL, Plessen, KJ, Roessner, V, Shin, E-Y, Song, D-H, Song, J, Tübing, J, van den Ban, E, Visscher, F, Wanderer, S, Woods, M, Zinner, SH, King, RA, Tischfield, JA, Heiman, GA, Hoekstra, PJ & Dietrich, A 2018, 'Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach', EUR ARCH PSY CLIN N, Jg. 268, Nr. 3, S. 301-316. https://doi.org/10.1007/s00406-017-0808-8

APA

Abdulkadir, M., Londono, D., Gordon, D., Fernandez, T. V., Brown, L. W., Cheon, K-A., Coffey, B. J., Elzerman, L., Fremer, C., Fründt, O., Garcia-Delgar, B., Gilbert, D. L., Grice, D. E., Hedderly, T., Heyman, I., Hong, H. J., Huyser, C., Ibanez-Gomez, L., Jakubovski, E., ... Dietrich, A. (2018). Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach. EUR ARCH PSY CLIN N, 268(3), 301-316. https://doi.org/10.1007/s00406-017-0808-8

Vancouver

Abdulkadir M, Londono D, Gordon D, Fernandez TV, Brown LW, Cheon K-A et al. Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach. EUR ARCH PSY CLIN N. 2018 Apr;268(3):301-316. https://doi.org/10.1007/s00406-017-0808-8

Bibtex

@article{11a48cd410e24fc09dedc851ee3e82f1,
title = "Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach",
abstract = "Genetic studies in Tourette syndrome (TS) are characterized by scattered and poorly replicated findings. We aimed to replicate findings from candidate gene and genome-wide association studies (GWAS). Our cohort included 465 probands with chronic tic disorder (93% TS) and both parents from 412 families (some probands were siblings). We assessed 75 single nucleotide polymorphisms (SNPs) in 465 parent-child trios; 117 additional SNPs in 211 trios; and 4 additional SNPs in 254 trios. We performed SNP and gene-based transmission disequilibrium tests and compared nominally significant SNP results with those from a large independent case-control cohort. After quality control 71 SNPs were available in 371 trios; 112 SNPs in 179 trios; and 3 SNPs in 192 trios. 17 were candidate SNPs implicated in TS and 2 were implicated in obsessive-compulsive disorder (OCD) or autism spectrum disorder (ASD); 142 were tagging SNPs from eight monoamine neurotransmitter-related genes (including dopamine and serotonin); 10 were top SNPs from TS GWAS; and 13 top SNPs from attention-deficit/hyperactivity disorder, OCD, or ASD GWAS. None of the SNPs or genes reached significance after adjustment for multiple testing. We observed nominal significance for the candidate SNPs rs3744161 (TBCD) and rs4565946 (TPH2) and for five tagging SNPs; none of these showed significance in the independent cohort. Also, SLC1A1 in our gene-based analysis and two TS GWAS SNPs showed nominal significance, rs11603305 (intergenic) and rs621942 (PICALM). We found no convincing support for previously implicated genetic polymorphisms. Targeted re-sequencing should fully appreciate the relevance of candidate genes.",
keywords = "Journal Article",
author = "Mohamed Abdulkadir and Douglas Londono and Derek Gordon and Fernandez, {Thomas V} and Brown, {Lawrence W} and Keun-Ah Cheon and Coffey, {Barbara J} and Lonneke Elzerman and Carolin Fremer and Odette Fr{\"u}ndt and Blanca Garcia-Delgar and Gilbert, {Donald L} and Grice, {Dorothy E} and Tammy Hedderly and Isobel Heyman and Hong, {Hyun Ju} and Chaim Huyser and Laura Ibanez-Gomez and Ewgeni Jakubovski and Kim, {Young Key} and Kim, {Young Shin} and Yun-Joo Koh and Sodahm Kook and Samuel Kuperman and Bennett Leventhal and Ludolph, {Andrea G} and Marcos Madruga-Garrido and Athanasios Maras and Pablo Mir and Astrid Morer and Kirsten M{\"u}ller-Vahl and Alexander M{\"u}nchau and Murphy, {Tara L} and Plessen, {Kerstin J} and Veit Roessner and Eun-Young Shin and Dong-Ho Song and Jungeun Song and Jennifer T{\"u}bing and {van den Ban}, Els and Frank Visscher and Sina Wanderer and Martin Woods and Zinner, {Samuel H} and King, {Robert A} and Tischfield, {Jay A} and Heiman, {Gary A} and Hoekstra, {Pieter J} and Andrea Dietrich",
year = "2018",
month = apr,
doi = "10.1007/s00406-017-0808-8",
language = "English",
volume = "268",
pages = "301--316",
journal = "EUR ARCH PSY CLIN N",
issn = "0940-1334",
publisher = "D. Steinkopff-Verlag",
number = "3",

}

RIS

TY - JOUR

T1 - Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach

AU - Abdulkadir, Mohamed

AU - Londono, Douglas

AU - Gordon, Derek

AU - Fernandez, Thomas V

AU - Brown, Lawrence W

AU - Cheon, Keun-Ah

AU - Coffey, Barbara J

AU - Elzerman, Lonneke

AU - Fremer, Carolin

AU - Fründt, Odette

AU - Garcia-Delgar, Blanca

AU - Gilbert, Donald L

AU - Grice, Dorothy E

AU - Hedderly, Tammy

AU - Heyman, Isobel

AU - Hong, Hyun Ju

AU - Huyser, Chaim

AU - Ibanez-Gomez, Laura

AU - Jakubovski, Ewgeni

AU - Kim, Young Key

AU - Kim, Young Shin

AU - Koh, Yun-Joo

AU - Kook, Sodahm

AU - Kuperman, Samuel

AU - Leventhal, Bennett

AU - Ludolph, Andrea G

AU - Madruga-Garrido, Marcos

AU - Maras, Athanasios

AU - Mir, Pablo

AU - Morer, Astrid

AU - Müller-Vahl, Kirsten

AU - Münchau, Alexander

AU - Murphy, Tara L

AU - Plessen, Kerstin J

AU - Roessner, Veit

AU - Shin, Eun-Young

AU - Song, Dong-Ho

AU - Song, Jungeun

AU - Tübing, Jennifer

AU - van den Ban, Els

AU - Visscher, Frank

AU - Wanderer, Sina

AU - Woods, Martin

AU - Zinner, Samuel H

AU - King, Robert A

AU - Tischfield, Jay A

AU - Heiman, Gary A

AU - Hoekstra, Pieter J

AU - Dietrich, Andrea

PY - 2018/4

Y1 - 2018/4

N2 - Genetic studies in Tourette syndrome (TS) are characterized by scattered and poorly replicated findings. We aimed to replicate findings from candidate gene and genome-wide association studies (GWAS). Our cohort included 465 probands with chronic tic disorder (93% TS) and both parents from 412 families (some probands were siblings). We assessed 75 single nucleotide polymorphisms (SNPs) in 465 parent-child trios; 117 additional SNPs in 211 trios; and 4 additional SNPs in 254 trios. We performed SNP and gene-based transmission disequilibrium tests and compared nominally significant SNP results with those from a large independent case-control cohort. After quality control 71 SNPs were available in 371 trios; 112 SNPs in 179 trios; and 3 SNPs in 192 trios. 17 were candidate SNPs implicated in TS and 2 were implicated in obsessive-compulsive disorder (OCD) or autism spectrum disorder (ASD); 142 were tagging SNPs from eight monoamine neurotransmitter-related genes (including dopamine and serotonin); 10 were top SNPs from TS GWAS; and 13 top SNPs from attention-deficit/hyperactivity disorder, OCD, or ASD GWAS. None of the SNPs or genes reached significance after adjustment for multiple testing. We observed nominal significance for the candidate SNPs rs3744161 (TBCD) and rs4565946 (TPH2) and for five tagging SNPs; none of these showed significance in the independent cohort. Also, SLC1A1 in our gene-based analysis and two TS GWAS SNPs showed nominal significance, rs11603305 (intergenic) and rs621942 (PICALM). We found no convincing support for previously implicated genetic polymorphisms. Targeted re-sequencing should fully appreciate the relevance of candidate genes.

AB - Genetic studies in Tourette syndrome (TS) are characterized by scattered and poorly replicated findings. We aimed to replicate findings from candidate gene and genome-wide association studies (GWAS). Our cohort included 465 probands with chronic tic disorder (93% TS) and both parents from 412 families (some probands were siblings). We assessed 75 single nucleotide polymorphisms (SNPs) in 465 parent-child trios; 117 additional SNPs in 211 trios; and 4 additional SNPs in 254 trios. We performed SNP and gene-based transmission disequilibrium tests and compared nominally significant SNP results with those from a large independent case-control cohort. After quality control 71 SNPs were available in 371 trios; 112 SNPs in 179 trios; and 3 SNPs in 192 trios. 17 were candidate SNPs implicated in TS and 2 were implicated in obsessive-compulsive disorder (OCD) or autism spectrum disorder (ASD); 142 were tagging SNPs from eight monoamine neurotransmitter-related genes (including dopamine and serotonin); 10 were top SNPs from TS GWAS; and 13 top SNPs from attention-deficit/hyperactivity disorder, OCD, or ASD GWAS. None of the SNPs or genes reached significance after adjustment for multiple testing. We observed nominal significance for the candidate SNPs rs3744161 (TBCD) and rs4565946 (TPH2) and for five tagging SNPs; none of these showed significance in the independent cohort. Also, SLC1A1 in our gene-based analysis and two TS GWAS SNPs showed nominal significance, rs11603305 (intergenic) and rs621942 (PICALM). We found no convincing support for previously implicated genetic polymorphisms. Targeted re-sequencing should fully appreciate the relevance of candidate genes.

KW - Journal Article

U2 - 10.1007/s00406-017-0808-8

DO - 10.1007/s00406-017-0808-8

M3 - SCORING: Journal article

C2 - 28555406

VL - 268

SP - 301

EP - 316

JO - EUR ARCH PSY CLIN N

JF - EUR ARCH PSY CLIN N

SN - 0940-1334

IS - 3

ER -