Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor
Some clinical and experimental data suggest a possible role of γ-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET). We studied the allelic and genotype frequencies of the single nucleotide polymorphisms, such as GABRA4-L26M (Leu26Met, rs2229940), GABRE-S102A (Ser2...
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| Veröffentlicht in: | Pharmacogenetics and genomics 2011-07, Vol.21 (7), p.436-439 |
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| creator | García-Martín, Elena Martínez, Carmen Alonso-Navarro, Hortensia Benito-León, Julián Lorenzo-Betancor, Oswaldo Pastor, Pau Puertas, Inmaculada Rubio, Lluisa López-Alburquerque, Tomás Agúndez, José A.G Jiménez-Jiménez, Félix Javier |
| description | Some clinical and experimental data suggest a possible role of γ-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET). We studied the allelic and genotype frequencies of the single nucleotide polymorphisms, such as GABRA4-L26M (Leu26Met, rs2229940), GABRE-S102A (Ser26Ala, rs1139916), and GABRQ-I478F (Ile26Phe, rs3810651), in 200 patients with familial ET and 250 healthy controls using TaqMan genotyping. GABRA4-L26M, GABRE-S102A, and GABRQ-I478F genotype and allelic frequencies did not differ significantly between patients with ET and controls, and were unrelated to the age at onset of tremor or sex. The GABRQ-478F allele seemed to be related to improvement of tremor with ethanol use among men (odds ratio=2.32, 95% confidence interval=0.26–4.3, P=0.007, Pc=0.021). The results of this study suggest that the single nucleotide polymorphisms studied in the GABRA4, GABRE, and GABRQ genes are not related to the risk for familial ET. |
| doi_str_mv | 10.1097/FPC.0b013e328345bec0 |
| format | Article |
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We studied the allelic and genotype frequencies of the single nucleotide polymorphisms, such as GABRA4-L26M (Leu26Met, rs2229940), GABRE-S102A (Ser26Ala, rs1139916), and GABRQ-I478F (Ile26Phe, rs3810651), in 200 patients with familial ET and 250 healthy controls using TaqMan genotyping. GABRA4-L26M, GABRE-S102A, and GABRQ-I478F genotype and allelic frequencies did not differ significantly between patients with ET and controls, and were unrelated to the age at onset of tremor or sex. The GABRQ-478F allele seemed to be related to improvement of tremor with ethanol use among men (odds ratio=2.32, 95% confidence interval=0.26–4.3, P=0.007, Pc=0.021). The results of this study suggest that the single nucleotide polymorphisms studied in the GABRA4, GABRE, and GABRQ genes are not related to the risk for familial ET.</description><identifier>ISSN: 1744-6872</identifier><identifier>EISSN: 1744-6880</identifier><identifier>DOI: 10.1097/FPC.0b013e328345bec0</identifier><identifier>PMID: 21422964</identifier><language>eng</language><publisher>Hagerstown, MD: Lippincott Williams & Wilkins, Inc</publisher><subject>Aged ; Aged, 80 and over ; Biological and medical sciences ; Cell receptors ; Cell structures and functions ; Essential Tremor - genetics ; Female ; Fundamental and applied biological sciences. Psychology ; gamma-Aminobutyric Acid - metabolism ; Gene Frequency ; General pharmacology ; Genotype ; Humans ; Male ; Medical sciences ; Middle Aged ; Miscellaneous ; Molecular and cellular biology ; Nervous system (semeiology, syndromes) ; Nervous system as a whole ; Neurology ; Pharmacokinetics. Pharmacogenetics. Drug-receptor interactions ; Pharmacology. 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We studied the allelic and genotype frequencies of the single nucleotide polymorphisms, such as GABRA4-L26M (Leu26Met, rs2229940), GABRE-S102A (Ser26Ala, rs1139916), and GABRQ-I478F (Ile26Phe, rs3810651), in 200 patients with familial ET and 250 healthy controls using TaqMan genotyping. GABRA4-L26M, GABRE-S102A, and GABRQ-I478F genotype and allelic frequencies did not differ significantly between patients with ET and controls, and were unrelated to the age at onset of tremor or sex. The GABRQ-478F allele seemed to be related to improvement of tremor with ethanol use among men (odds ratio=2.32, 95% confidence interval=0.26–4.3, P=0.007, Pc=0.021). The results of this study suggest that the single nucleotide polymorphisms studied in the GABRA4, GABRE, and GABRQ genes are not related to the risk for familial ET.</description><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Biological and medical sciences</subject><subject>Cell receptors</subject><subject>Cell structures and functions</subject><subject>Essential Tremor - genetics</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>gamma-Aminobutyric Acid - metabolism</subject><subject>Gene Frequency</subject><subject>General pharmacology</subject><subject>Genotype</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Miscellaneous</subject><subject>Molecular and cellular biology</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Nervous system as a whole</subject><subject>Neurology</subject><subject>Pharmacokinetics. Pharmacogenetics. Drug-receptor interactions</subject><subject>Pharmacology. Drug treatments</subject><subject>Polymorphism, Genetic</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Receptors, GABA-A - genetics</subject><subject>Risk Factors</subject><issn>1744-6872</issn><issn>1744-6880</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp90E1v1DAQBmALUdFS-AcI5YK4NGX8Ecc5blftFqlSC4JzNHYmWlPnAztRtf-e0N0WiUNPM_I8Y1svYx84nHOoyi9Xd-tzsMAlSWGkKiw5eMVOeKlUro2B1899KY7Z25R-AUhdKfGGHQuuhKi0OmG0wa7DHDvfD3aedtG7DJ1vss3q4vtKnT3Wy7MM-_3RtyySo3EaYjYOYdcNcdz61KVHEH26z9plRClRP3kM2RRpMe_YUYsh0ftDPWU_ry5_rK_zm9vN1_XqJncSAHJVKWeEKyx32iJvyJDDClolnDS2KDk0lUXdtlZolLqUwCssQJu2tLZorDxln_f3jnH4PVOa6s4nRyFgT8OcamM4mEobuUi1ly4OKUVq6zH6DuOu5lD_zbde8q3_z3dZ-3h4YLYdNc9LT4Eu4NMBYHIY2oi98-mfU1JobsrFmb17GMJEMd2H-YFivSUM0_blP_wBuS-V4g</recordid><startdate>201107</startdate><enddate>201107</enddate><creator>García-Martín, Elena</creator><creator>Martínez, Carmen</creator><creator>Alonso-Navarro, Hortensia</creator><creator>Benito-León, Julián</creator><creator>Lorenzo-Betancor, Oswaldo</creator><creator>Pastor, Pau</creator><creator>Puertas, Inmaculada</creator><creator>Rubio, Lluisa</creator><creator>López-Alburquerque, Tomás</creator><creator>Agúndez, José A.G</creator><creator>Jiménez-Jiménez, Félix Javier</creator><general>Lippincott Williams & Wilkins, Inc</general><general>Lippincott Williams & Wilkins</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>201107</creationdate><title>Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor</title><author>García-Martín, Elena ; Martínez, Carmen ; Alonso-Navarro, Hortensia ; Benito-León, Julián ; Lorenzo-Betancor, Oswaldo ; Pastor, Pau ; Puertas, Inmaculada ; Rubio, Lluisa ; López-Alburquerque, Tomás ; Agúndez, José A.G ; Jiménez-Jiménez, Félix Javier</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3000-494c82c5b1c6ba1de8eca90f42c38b5710d9ba6ffb26a3673019a5068f7bb5db3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Biological and medical sciences</topic><topic>Cell receptors</topic><topic>Cell structures and functions</topic><topic>Essential Tremor - genetics</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>gamma-Aminobutyric Acid - metabolism</topic><topic>Gene Frequency</topic><topic>General pharmacology</topic><topic>Genotype</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Miscellaneous</topic><topic>Molecular and cellular biology</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Nervous system as a whole</topic><topic>Neurology</topic><topic>Pharmacokinetics. Pharmacogenetics. Drug-receptor interactions</topic><topic>Pharmacology. Drug treatments</topic><topic>Polymorphism, Genetic</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Receptors, GABA-A - genetics</topic><topic>Risk Factors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>García-Martín, Elena</creatorcontrib><creatorcontrib>Martínez, Carmen</creatorcontrib><creatorcontrib>Alonso-Navarro, Hortensia</creatorcontrib><creatorcontrib>Benito-León, Julián</creatorcontrib><creatorcontrib>Lorenzo-Betancor, Oswaldo</creatorcontrib><creatorcontrib>Pastor, Pau</creatorcontrib><creatorcontrib>Puertas, Inmaculada</creatorcontrib><creatorcontrib>Rubio, Lluisa</creatorcontrib><creatorcontrib>López-Alburquerque, Tomás</creatorcontrib><creatorcontrib>Agúndez, José A.G</creatorcontrib><creatorcontrib>Jiménez-Jiménez, Félix Javier</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Pharmacogenetics and genomics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>García-Martín, Elena</au><au>Martínez, Carmen</au><au>Alonso-Navarro, Hortensia</au><au>Benito-León, Julián</au><au>Lorenzo-Betancor, Oswaldo</au><au>Pastor, Pau</au><au>Puertas, Inmaculada</au><au>Rubio, Lluisa</au><au>López-Alburquerque, Tomás</au><au>Agúndez, José A.G</au><au>Jiménez-Jiménez, Félix Javier</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor</atitle><jtitle>Pharmacogenetics and genomics</jtitle><addtitle>Pharmacogenet Genomics</addtitle><date>2011-07</date><risdate>2011</risdate><volume>21</volume><issue>7</issue><spage>436</spage><epage>439</epage><pages>436-439</pages><issn>1744-6872</issn><eissn>1744-6880</eissn><abstract>Some clinical and experimental data suggest a possible role of γ-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET). We studied the allelic and genotype frequencies of the single nucleotide polymorphisms, such as GABRA4-L26M (Leu26Met, rs2229940), GABRE-S102A (Ser26Ala, rs1139916), and GABRQ-I478F (Ile26Phe, rs3810651), in 200 patients with familial ET and 250 healthy controls using TaqMan genotyping. GABRA4-L26M, GABRE-S102A, and GABRQ-I478F genotype and allelic frequencies did not differ significantly between patients with ET and controls, and were unrelated to the age at onset of tremor or sex. The GABRQ-478F allele seemed to be related to improvement of tremor with ethanol use among men (odds ratio=2.32, 95% confidence interval=0.26–4.3, P=0.007, Pc=0.021). The results of this study suggest that the single nucleotide polymorphisms studied in the GABRA4, GABRE, and GABRQ genes are not related to the risk for familial ET.</abstract><cop>Hagerstown, MD</cop><pub>Lippincott Williams & Wilkins, Inc</pub><pmid>21422964</pmid><doi>10.1097/FPC.0b013e328345bec0</doi><tpages>4</tpages></addata></record> |
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| subjects | Aged Aged, 80 and over Biological and medical sciences Cell receptors Cell structures and functions Essential Tremor - genetics Female Fundamental and applied biological sciences. Psychology gamma-Aminobutyric Acid - metabolism Gene Frequency General pharmacology Genotype Humans Male Medical sciences Middle Aged Miscellaneous Molecular and cellular biology Nervous system (semeiology, syndromes) Nervous system as a whole Neurology Pharmacokinetics. Pharmacogenetics. Drug-receptor interactions Pharmacology. Drug treatments Polymorphism, Genetic Polymorphism, Single Nucleotide Receptors, GABA-A - genetics Risk Factors |
| title | Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor |
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