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      KCI등재 SCOPUS

      한국인 자폐증과 Chromosome 5p14에 존재하는 CDH9, CDH10 유전자 다형성의 연관성 연구

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      https://www.riss.kr/link?id=A99588933

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      다국어 초록 (Multilingual Abstract) kakao i 다국어 번역

      Objectives:The region of chromosome 5p14 is known to be associated with autism spectrum disorder (ASD). The cadherin9 (CDH9) and cadherin10 (CDH10) genes are located in the region of chromosome 5p14 and reported to be associated with ASD in the Caucasian population. We performed an association study to identify if single nucleotide polymorphisms (SNPs) located on the CDH9 and CDH10 genes are associated in the Korean population.
      Methods:Genomic DNA was extracted from the blood of 214 patients with ASD and 258 controls. SNPs selected from two genes were genotyped using an Illumina Golden-Gate Genotyping assay with VeraCode technology. Statistical analysis was performed using SAS and Plink software.
      Results:All controls and ASD patients were in Hardy-Weinberg equilibrium. In the results of logistic regression analyses for the genotype model and the chi-square test for the allele model, we found that SNPs on the CDH9 and CDH10 genes were not associated with ASD.
      Conclusion:Our data suggests that the CDH9 and CDH10 genes are not associated with ASD in the Korean population.
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      Objectives:The region of chromosome 5p14 is known to be associated with autism spectrum disorder (ASD). The cadherin9 (CDH9) and cadherin10 (CDH10) genes are located in the region of chromosome 5p14 and reported to be associated with ASD in the Cauc...

      Objectives:The region of chromosome 5p14 is known to be associated with autism spectrum disorder (ASD). The cadherin9 (CDH9) and cadherin10 (CDH10) genes are located in the region of chromosome 5p14 and reported to be associated with ASD in the Caucasian population. We performed an association study to identify if single nucleotide polymorphisms (SNPs) located on the CDH9 and CDH10 genes are associated in the Korean population.
      Methods:Genomic DNA was extracted from the blood of 214 patients with ASD and 258 controls. SNPs selected from two genes were genotyped using an Illumina Golden-Gate Genotyping assay with VeraCode technology. Statistical analysis was performed using SAS and Plink software.
      Results:All controls and ASD patients were in Hardy-Weinberg equilibrium. In the results of logistic regression analyses for the genotype model and the chi-square test for the allele model, we found that SNPs on the CDH9 and CDH10 genes were not associated with ASD.
      Conclusion:Our data suggests that the CDH9 and CDH10 genes are not associated with ASD in the Korean population.

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      목차 (Table of Contents)

      • 서론
      • 대상 및 방법
      • 결과
      • 고찰
      • 결론
      • 서론
      • 대상 및 방법
      • 결과
      • 고찰
      • 결론
      • References
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      참고문헌 (Reference)

      1 Gabriel SB, "The structure of haplotype blocks in the human genome" 296 : 2225-2229, 2002

      2 Fombonne E, "The prevalence of autism" 289 : 87-89, 2003

      3 Walker MM, "The intercellular adhesion molecule, cadherin-10, is a marker for human prostate luminal epithelial cells that is not expressed in prostate cancer" 21 : 85-95, 2008

      4 Pokutta S, "Structure and mechanism of cadherins and catenins in cell-cell contacts" 23 : 237-261, 2007

      5 Gumbiner BM, "Regulation of cadherin-mediated adhesion in morphogenesis" 6 : 622-634, 2005

      6 Südhof TC, "Neuroligins and neurexins link synaptic function to cognitive disease" 455 : 903-911, 2008

      7 Shimoyama Y, "Identification of three human type-II classic cadherins and frequent heterophilic interactions between different subclasses of type-II classic cadherins" 349 : 159-167, 2000

      8 Gayther SA, "Identification of germ-line E-cadherin mutations in gastric cancer families of European origin" 58 : 4086-4089, 1998

      9 Hirschhorn JN, "Genome-wide association studies for common diseases and complex traits" 6 : 95-108, 2005

      10 Tepass U, "Genetic analysis of cadherin function in animal morphogenesis" 11 : 540-548, 1999

      1 Gabriel SB, "The structure of haplotype blocks in the human genome" 296 : 2225-2229, 2002

      2 Fombonne E, "The prevalence of autism" 289 : 87-89, 2003

      3 Walker MM, "The intercellular adhesion molecule, cadherin-10, is a marker for human prostate luminal epithelial cells that is not expressed in prostate cancer" 21 : 85-95, 2008

      4 Pokutta S, "Structure and mechanism of cadherins and catenins in cell-cell contacts" 23 : 237-261, 2007

      5 Gumbiner BM, "Regulation of cadherin-mediated adhesion in morphogenesis" 6 : 622-634, 2005

      6 Südhof TC, "Neuroligins and neurexins link synaptic function to cognitive disease" 455 : 903-911, 2008

      7 Shimoyama Y, "Identification of three human type-II classic cadherins and frequent heterophilic interactions between different subclasses of type-II classic cadherins" 349 : 159-167, 2000

      8 Gayther SA, "Identification of germ-line E-cadherin mutations in gastric cancer families of European origin" 58 : 4086-4089, 1998

      9 Hirschhorn JN, "Genome-wide association studies for common diseases and complex traits" 6 : 95-108, 2005

      10 Tepass U, "Genetic analysis of cadherin function in animal morphogenesis" 11 : 540-548, 1999

      11 Vos CB, "E-cadherin inactivation in lobular carcinoma in situ of the breast: an early event in tumorigenesis" 76 : 1131-1133, 1997

      12 Guilford P, "E-cadherin germline mutations in familial gastric cancer" 392 : 402-405, 1998

      13 Kjaer KW, "Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)" 42 : 292-298, 2005

      14 American Psychiatric Association, "Diagnostic and statistical manual of mental disorders" American Psychiatric Association Press 1994

      15 Wang K, "Common genetic variants on 5p14.1 associate with autism spectrum disorders" 459 : 528-533, 2009

      16 Tanihara H, "Cloning of five human cadherins clarifies characteristic features of cadherin extracellular domain and provides further evidence for two structurally different types of cadherin" 2 : 15-26, 1994

      17 Kemler R, "Classical cadherins" 3 : 149-155, 1992

      18 Tanihara H, "Characterization of cadherin-4 and cadherin-5 reveals new aspects of cadherins" 107 : 1697-1704, 1994

      19 Takeichi M, "Cadherins: a molecular family important in selective cell-cell adhesion" 59 : 237-252, 1990

      20 Redies C, "Cadherins in the central nervous system" 61 : 611-648, 2000

      21 Takeichi M, "Cadherins in cancer: implications for invasion and metastasis" 5 : 806-811, 1993

      22 Arikkath J, "Cadherins and catenins at synapses: roles in synaptogenesis and synaptic plasticity" 31 : 487-494, 2008

      23 Williams MJ, "Cadherin-10 is a novel blood-brain barrier adhesion molecule in human and mouse" 1058 : 62-72, 2005

      24 Yagi T, "Cadherin superfamily genes: functions, genomic organization, and neurologic diversity" 14 : 1169-1180, 2000

      25 Birchmeier W, "Cadherin expression in carcinomas: role in the formation of cell junctions and the prevention of invasiveness" 1198 : 11-26, 1994

      26 Gillberg C, "Autism: not an extremely rare disorder" 99 : 399-406, 1999

      27 Bailey A, "Autism as a strongly genetic disorder: evidence from a British twin study" 25 : 63-77, 1995

      28 St Pourcain B, "Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population" 167 : 1364-1372, 2010

      29 Ma D, "A genome-wide association study of autism reveals a common novel risk locus at 5p14.1" 73 : 263-273, 2009

      30 Berx G, "-cadherin is inactivated in a majority of invasive human lobular breast cancers by truncation mutations throughout its extracellular domain" 13 : 1919-1925, 1996

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      학술지 이력

      학술지 이력
      연월일 이력구분 이력상세 등재구분
      2022 평가예정 재인증평가 신청대상 (재인증)
      2019-01-01 평가 등재학술지 유지 (계속평가) KCI등재
      2016-01-01 평가 등재학술지 유지 (계속평가) KCI등재
      2012-01-01 평가 등재 1차 FAIL (등재유지) KCI등재
      2009-01-01 평가 등재학술지 선정 (등재후보2차) KCI등재
      2008-01-01 평가 등재후보 1차 PASS (등재후보1차) KCI등재후보
      2006-01-01 평가 등재후보학술지 선정 (신규평가) KCI등재후보
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      학술지 인용정보

      학술지 인용정보
      기준연도 WOS-KCI 통합IF(2년) KCIF(2년) KCIF(3년)
      2016 0.63 0.63 0.68
      KCIF(4년) KCIF(5년) 중심성지수(3년) 즉시성지수
      0.69 0.71 1.282 0.04
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