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Article: Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients

TitleGenetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients
Authors
Issue Date2005
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
Citation
European Journal Of Human Genetics, 2005, v. 13 n. 4, p. 422-427 How to Cite?
AbstractIn Caucasians, maturity-onset diabetes of the young (MODY) is mostly caused by mutations in the hepatocyte nuclear factor (HNF)-1α (MODY3) and glucokinase (MODY2) genes. Most Japanese MODY patients, however, are not linked to known MODY genes. In this study, we examined the genetic and clinical characteristics of Chinese subjects with MODY. The study included 146 unrelated families fulfilling the minimum criteria for MODY: two consecutive generations of type II diabetes with at least one member diagnosed under the age of 25. We screened for mutations in the HNF-4α (MODY1), MODY2 and MODY3 genes by direct sequencing. Antibody to glutamic acid decarboxylase (GAD-Ab) was measured in subjects with MODY of unknown cause (MODYX). Insulin resistance index and other clinical data were compared in sex-, age- and duration-matched MODY3 and MODYX patients. In all, 13 families had MODY3 mutations and two had MODY2 mutations. No MODY1 mutation was found. Four of the 12 different MODY3 mutations were newly identified novel mutations (Q243E, A311D, P379R and P488fsdelC). In subjects with MODYX, 3% were GAD-Ab positive and 60% were overweight. Compared to MODY3 patients, MODYX patients had higher body mass index (P<0.02), higher insulin resistance index (P=0.001) and triglyceride level (P<0.02), lower HDL level (P=0.001) and more hypertension (P<0.05), but no significant difference in the prevalence of diabetic complications. In conclusion, MODY3 and MODY2 account for only 9 and 1%, respectively, of Chinese MODY. A majority of Chinese MODY patients are due to defects in unknown genes and appear to be characterized by insulin resistance. © 2005 Nature Publishing Group All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/76759
ISSN
2015 Impact Factor: 4.58
2015 SCImago Journal Rankings: 2.077
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorXu, JYen_HK
dc.contributor.authorDan, QHen_HK
dc.contributor.authorChan, Ven_HK
dc.contributor.authorWat, NMSen_HK
dc.contributor.authorTam, Sen_HK
dc.contributor.authorTiu, SCen_HK
dc.contributor.authorLee, KFen_HK
dc.contributor.authorSiu, SCen_HK
dc.contributor.authorTsang, MWen_HK
dc.contributor.authorFung, LMen_HK
dc.contributor.authorChan, KWen_HK
dc.contributor.authorLam, KSLen_HK
dc.date.accessioned2010-09-06T07:24:37Z-
dc.date.available2010-09-06T07:24:37Z-
dc.date.issued2005en_HK
dc.identifier.citationEuropean Journal Of Human Genetics, 2005, v. 13 n. 4, p. 422-427en_HK
dc.identifier.issn1018-4813en_HK
dc.identifier.urihttp://hdl.handle.net/10722/76759-
dc.description.abstractIn Caucasians, maturity-onset diabetes of the young (MODY) is mostly caused by mutations in the hepatocyte nuclear factor (HNF)-1α (MODY3) and glucokinase (MODY2) genes. Most Japanese MODY patients, however, are not linked to known MODY genes. In this study, we examined the genetic and clinical characteristics of Chinese subjects with MODY. The study included 146 unrelated families fulfilling the minimum criteria for MODY: two consecutive generations of type II diabetes with at least one member diagnosed under the age of 25. We screened for mutations in the HNF-4α (MODY1), MODY2 and MODY3 genes by direct sequencing. Antibody to glutamic acid decarboxylase (GAD-Ab) was measured in subjects with MODY of unknown cause (MODYX). Insulin resistance index and other clinical data were compared in sex-, age- and duration-matched MODY3 and MODYX patients. In all, 13 families had MODY3 mutations and two had MODY2 mutations. No MODY1 mutation was found. Four of the 12 different MODY3 mutations were newly identified novel mutations (Q243E, A311D, P379R and P488fsdelC). In subjects with MODYX, 3% were GAD-Ab positive and 60% were overweight. Compared to MODY3 patients, MODYX patients had higher body mass index (P<0.02), higher insulin resistance index (P=0.001) and triglyceride level (P<0.02), lower HDL level (P=0.001) and more hypertension (P<0.05), but no significant difference in the prevalence of diabetic complications. In conclusion, MODY3 and MODY2 account for only 9 and 1%, respectively, of Chinese MODY. A majority of Chinese MODY patients are due to defects in unknown genes and appear to be characterized by insulin resistance. © 2005 Nature Publishing Group All rights reserved.en_HK
dc.languageengen_HK
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhgen_HK
dc.relation.ispartofEuropean Journal of Human Geneticsen_HK
dc.subject.meshAdulten_HK
dc.subject.meshAgeden_HK
dc.subject.meshCase-Control Studiesen_HK
dc.subject.meshChina - epidemiologyen_HK
dc.subject.meshDNA-Binding Proteins - geneticsen_HK
dc.subject.meshDiabetes Mellitus, Type 2 - diagnosis - epidemiology - geneticsen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshGenetic Testingen_HK
dc.subject.meshGlucokinase - geneticsen_HK
dc.subject.meshGlutamate Decarboxylase - immunology - metabolismen_HK
dc.subject.meshHepatocyte Nuclear Factor 1en_HK
dc.subject.meshHepatocyte Nuclear Factor 1-alphaen_HK
dc.subject.meshHepatocyte Nuclear Factor 4en_HK
dc.subject.meshHumansen_HK
dc.subject.meshInsulin Resistanceen_HK
dc.subject.meshMaleen_HK
dc.subject.meshMiddle Ageden_HK
dc.subject.meshMutation - geneticsen_HK
dc.subject.meshNuclear Proteins - geneticsen_HK
dc.subject.meshPedigreeen_HK
dc.subject.meshPhosphoproteins - geneticsen_HK
dc.subject.meshReceptors, Glucocorticoid - geneticsen_HK
dc.subject.meshTranscription Factors - geneticsen_HK
dc.titleGenetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patientsen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1018-4813&volume=13&spage=422&epage=427&date=2005&atitle=Genetic+and+Clinical+Characteristics+of+Maturity-onset+Diabetes+of+the+Young+in+Chinese+Patientsen_HK
dc.identifier.emailChan, V:vnychana@hkucc.hku.hken_HK
dc.identifier.emailLam, KSL:ksllam@hku.hken_HK
dc.identifier.authorityChan, V=rp00320en_HK
dc.identifier.authorityLam, KSL=rp00343en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1038/sj.ejhg.5201347en_HK
dc.identifier.pmid15657605-
dc.identifier.scopuseid_2-s2.0-20244364399en_HK
dc.identifier.hkuros97714en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-20244364399&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume13en_HK
dc.identifier.issue4en_HK
dc.identifier.spage422en_HK
dc.identifier.epage427en_HK
dc.identifier.isiWOS:000227858100009-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridXu, JY=8947805200en_HK
dc.identifier.scopusauthoridDan, QH=8592046400en_HK
dc.identifier.scopusauthoridChan, V=7202654865en_HK
dc.identifier.scopusauthoridWat, NMS=6602131754en_HK
dc.identifier.scopusauthoridTam, S=7202037323en_HK
dc.identifier.scopusauthoridTiu, SC=7003310747en_HK
dc.identifier.scopusauthoridLee, KF=8668509000en_HK
dc.identifier.scopusauthoridSiu, SC=8592047000en_HK
dc.identifier.scopusauthoridTsang, MW=7102712282en_HK
dc.identifier.scopusauthoridFung, LM=8592047200en_HK
dc.identifier.scopusauthoridChan, KW=35188519500en_HK
dc.identifier.scopusauthoridLam, KSL=8082870600en_HK
dc.identifier.citeulike3757-

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