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Major gene evidence after MTHFR-segregation analysis of serum homocysteine in families of patients undergoing coronary arteriography

DC Field Value Language
dc.contributor.author서일-
dc.contributor.author지선하-
dc.date.accessioned2016-05-16T11:25:15Z-
dc.date.available2016-05-16T11:25:15Z-
dc.date.issued2002-
dc.identifier.issn0340-6717-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/144511-
dc.description.abstractElevated levels of homocysteine is a risk factor for coronary artery disease. Polymorphic alleles in the MTHFR genes that cause recessively inherited increased homocysteine level can explain only a small proportion of the observed variation in homocysteine level. To investigate additional genetic influences, we examined environmental, familial, and genetic influences on serum homocysteine levels in 661 family members of 112 probands who underwent elective coronary arteriography. Maximum likelihood methods were used to fit several genetic and non-genetic models of inheritance to these data to determine if an unobserved Mendelian major gene could explain the familial homocysteine distribution. Adjustments for age, lifestyle (smoking and alcohol consumption), serum folate and vitamin B12, and the measured genotype effect of the MTHFR C677T mutation was carried out separately for males and females using multiple regression models for homocysteine, before and after log-transformation prior to this segregation analysis. After excluding the effects of mutations in the MTHFR genes, we found evidence of a major gene acting in a co-dominant manner. Estimated mean homocysteine levels for the three putative genotypes (LL, LH, and HH) were 8.0, 10.1, and 15.9 µmol/l, respectively, with relative frequencies of 56.8%, 37.2%, and 6%, respectively. Our analysis suggested the presence of a co-dominantly expressed major gene, in addition to the effects of the MTHFR C677T mutation. The results of this study also indicated that multifactorial inheritance was supported more strongly than Mendelian inheritance alone. Our findings may have implications for attempts to identify new homocysteine susceptible genes.-
dc.description.statementOfResponsibilityopen-
dc.format.extent128~135-
dc.relation.isPartOfHUMAN GENETICS-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAdolescent-
dc.subject.MESHAdult-
dc.subject.MESHAged-
dc.subject.MESHAged, 80 and over-
dc.subject.MESHChild-
dc.subject.MESHChromosome Segregation/genetics*-
dc.subject.MESHCoronary Angiography-
dc.subject.MESHCoronary Artery Disease/genetics*-
dc.subject.MESHCoronary Artery Disease/metabolism-
dc.subject.MESHCoronary Artery Disease/pathology-
dc.subject.MESHFamily-
dc.subject.MESHFemale-
dc.subject.MESHFolic Acid/blood-
dc.subject.MESHGenotype-
dc.subject.MESHHomocysteine/blood*-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHMethylenetetrahydrofolate Reductase (NADPH2)-
dc.subject.MESHMiddle Aged-
dc.subject.MESHMutation/genetics*-
dc.subject.MESHOxidoreductases Acting on CH-NH Group Donors/genetics*-
dc.subject.MESHOxidoreductases Acting on CH-NH Group Donors/metabolism-
dc.subject.MESHPedigree-
dc.subject.MESHVitamin B 12/blood-
dc.titleMajor gene evidence after MTHFR-segregation analysis of serum homocysteine in families of patients undergoing coronary arteriography-
dc.typeArticle-
dc.contributor.collegeGraduate School of Public Health (보건대학원)-
dc.contributor.departmentGraduate School of Public Health (보건대학원)-
dc.contributor.googleauthorSun Jee-
dc.contributor.googleauthorKyung Song-
dc.contributor.googleauthorWon Shim-
dc.contributor.googleauthorHyun Kim-
dc.contributor.googleauthorIl Suh-
dc.contributor.googleauthorJung Park-
dc.contributor.googleauthorSo Won-
dc.contributor.googleauthorTerri H. Beaty-
dc.identifier.doi10.1007/s00439-002-0757-8-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA01899-
dc.contributor.localIdA03965-
dc.relation.journalcodeJ01007-
dc.identifier.eissn1432-1203-
dc.identifier.pmid12189485-
dc.identifier.urlhttp://link.springer.com/article/10.1007%2Fs00439-002-0757-8-
dc.subject.keywordHomocysteine-
dc.subject.keywordHomocysteine Level-
dc.subject.keywordSegregation Analysis-
dc.subject.keywordSerum Folate-
dc.subject.keywordMTHFR Gene-
dc.contributor.alternativeNameSuh, Il-
dc.contributor.alternativeNameJee, Sun Ha-
dc.contributor.affiliatedAuthorSuh, Il-
dc.contributor.affiliatedAuthorJee, Sun Ha-
dc.rights.accessRightsnot free-
dc.citation.volume111-
dc.citation.number2-
dc.citation.startPage128-
dc.citation.endPage135-
dc.identifier.bibliographicCitationHUMAN GENETICS, Vol.111(2) : 128-135, 2002-
dc.identifier.rimsid49768-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Preventive Medicine (예방의학교실) > 1. Journal Papers
4. Graduate School of Public Health (보건대학원) > Graduate School of Public Health (보건대학원) > 1. Journal Papers

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