https://scholars.lib.ntu.edu.tw/handle/123456789/504835
標題: | Association of the 3′ region of COMT with Schizophrenia in Taiwan | 作者: | YI-LING CHIEN Liu C.-M. Fann C.S.-J. Liu Y.-L. Hwu H.-G. |
關鍵字: | Case-control studies; Catechol O-methyltransferase; Family-based association study; Schizophrenia | 公開日期: | 2009 | 出版社: | Scientific Communications International Ltd | 卷: | 108 | 期: | 4 | 起(迄)頁: | 301-309 | 來源出版物: | Journal of the Formosan Medical Association | 摘要: | Background/Purpose: The Val108/158Met (rs4680) single nucleotide polymorphism (SNP) in the catechol-O-methyltransferase (COMT) gene contributes to genetic susceptibility to schizophrenia, which is specifically related to impairments in executive functioning. A different genomic region composed of three SNPs (rs737865, rs4680, rs165599) within the COMT gene has been reported to be significantly associated with schizophrenia in Ashkenazi Jews. This study aims to clarify the association between these three SNPs and their haplotypes with schizophrenia and neurocognitive functioning, using both case-control and family-based designs. Methods: The case-control study included 124 schizophrenia patients and 112 healthy controls, while the family samples included 83 families with at least two affected siblings. The neurocognitive functioning was assessed by the Continuous Performance Test (CPT) and Wisconsin Card Sorting Test. The association analysis was performed using TRANSMIT and FBAT. Results: There was no significant association between the three SNPs and schizophrenia in the case-control study. In the family study, the A allele of rs165599 was transmitted preferentially to the affected individuals (p = 0.023), and significantly associated with a later age of onset (p = 0.018), more severe delusion/hallucination symptom dimension (p = 0.027), and poorer performance in the CPT (p = 0.04). The triple SNP haplotypes did not reveal any significant association with schizophrenia or neurocognitive function. Conclusion: The SNP rs165599, which has been mapped to the 3′-UTR region of the COMT gene, was significantly associated with schizophrenia in our family study, and possibly associated with the age of onset, delusion/hallucination symptom dimension, and CPT performance. Therefore, COMT may contribute to the genetic risk for schizophrenia not through the Val108/158Met polymorphism, but through other variants that are situated 3′ to this region, in the Taiwanese population. Nevertheless, the true associated functional variants in our subjects remain to be elucidated. ? 2009 Elsevier & Formosan Medical Association. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-65549114069&doi=10.1016%2fS0929-6646%2809%2960070-X&partnerID=40&md5=2a788978ab980d8ad551a2e57d3d1cff https://scholars.lib.ntu.edu.tw/handle/123456789/504835 |
ISSN: | 0929-6646 | DOI: | 10.1016/S0929-6646(09)60070-X | SDG/關鍵字: | catechol methyltransferase; methionine; valine; catechol methyltransferase; 3' untranslated region; adult; article; case control study; cognition; controlled study; delusion; disease severity; family; female; gene frequency; genotype; hallucination; haplotype; human; major clinical study; male; onset age; phenotype; schizophrenia; sibling; single nucleotide polymorphism; Wisconsin Card Sorting Test; Asian; enzymology; genetic predisposition; genetics; schizophrenia; Taiwan; Adult; Age of Onset; Asian Continental Ancestry Group; Case-Control Studies; Catechol O-Methyltransferase; Female; Genetic Predisposition to Disease; Genotype; Humans; Male; Phenotype; Polymorphism, Single Nucleotide; Schizophrenia; Taiwan; Young Adult |
顯示於: | 臨床醫學研究所 |
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