File Download
There are no files associated with this item.
Links for fulltext
(May Require Subscription)
- Publisher Website: 10.1038/sj.ejhg.5201347
- Scopus: eid_2-s2.0-20244364399
- PMID: 15657605
- WOS: WOS:000227858100009
- Find via
Supplementary
- Citations:
- Appears in Collections:
Article: Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients
Title | Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients |
---|---|
Authors | |
Keywords | Chinese Insulin resistance Maturity-onset diabetes of the young Obesity |
Issue Date | 2005 |
Publisher | Nature 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? |
Abstract | In 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 Identifier | http://hdl.handle.net/10722/76759 |
ISSN | 2023 Impact Factor: 3.7 2023 SCImago Journal Rankings: 1.538 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Xu, JY | en_HK |
dc.contributor.author | Dan, QH | en_HK |
dc.contributor.author | Chan, V | en_HK |
dc.contributor.author | Wat, NMS | en_HK |
dc.contributor.author | Tam, S | en_HK |
dc.contributor.author | Tiu, SC | en_HK |
dc.contributor.author | Lee, KF | en_HK |
dc.contributor.author | Siu, SC | en_HK |
dc.contributor.author | Tsang, MW | en_HK |
dc.contributor.author | Fung, LM | en_HK |
dc.contributor.author | Chan, KW | en_HK |
dc.contributor.author | Lam, KSL | en_HK |
dc.date.accessioned | 2010-09-06T07:24:37Z | - |
dc.date.available | 2010-09-06T07:24:37Z | - |
dc.date.issued | 2005 | en_HK |
dc.identifier.citation | European Journal Of Human Genetics, 2005, v. 13 n. 4, p. 422-427 | en_HK |
dc.identifier.issn | 1018-4813 | en_HK |
dc.identifier.uri | http://hdl.handle.net/10722/76759 | - |
dc.description.abstract | In 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.language | eng | en_HK |
dc.publisher | Nature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg | en_HK |
dc.relation.ispartof | European Journal of Human Genetics | en_HK |
dc.subject | Chinese | - |
dc.subject | Insulin resistance | - |
dc.subject | Maturity-onset diabetes of the young | - |
dc.subject | Obesity | - |
dc.subject.mesh | Adult | en_HK |
dc.subject.mesh | Aged | en_HK |
dc.subject.mesh | Case-Control Studies | en_HK |
dc.subject.mesh | China - epidemiology | en_HK |
dc.subject.mesh | DNA-Binding Proteins - genetics | en_HK |
dc.subject.mesh | Diabetes Mellitus, Type 2 - diagnosis - epidemiology - genetics | en_HK |
dc.subject.mesh | Female | en_HK |
dc.subject.mesh | Genetic Testing | en_HK |
dc.subject.mesh | Glucokinase - genetics | en_HK |
dc.subject.mesh | Glutamate Decarboxylase - immunology - metabolism | en_HK |
dc.subject.mesh | Hepatocyte Nuclear Factor 1 | en_HK |
dc.subject.mesh | Hepatocyte Nuclear Factor 1-alpha | en_HK |
dc.subject.mesh | Hepatocyte Nuclear Factor 4 | en_HK |
dc.subject.mesh | Humans | en_HK |
dc.subject.mesh | Insulin Resistance | en_HK |
dc.subject.mesh | Male | en_HK |
dc.subject.mesh | Middle Aged | en_HK |
dc.subject.mesh | Mutation - genetics | en_HK |
dc.subject.mesh | Nuclear Proteins - genetics | en_HK |
dc.subject.mesh | Pedigree | en_HK |
dc.subject.mesh | Phosphoproteins - genetics | en_HK |
dc.subject.mesh | Receptors, Glucocorticoid - genetics | en_HK |
dc.subject.mesh | Transcription Factors - genetics | en_HK |
dc.title | Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients | en_HK |
dc.type | Article | en_HK |
dc.identifier.openurl | http://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+Patients | en_HK |
dc.identifier.email | Chan, V:vnychana@hkucc.hku.hk | en_HK |
dc.identifier.email | Lam, KSL:ksllam@hku.hk | en_HK |
dc.identifier.authority | Chan, V=rp00320 | en_HK |
dc.identifier.authority | Lam, KSL=rp00343 | en_HK |
dc.description.nature | link_to_subscribed_fulltext | - |
dc.identifier.doi | 10.1038/sj.ejhg.5201347 | en_HK |
dc.identifier.pmid | 15657605 | - |
dc.identifier.scopus | eid_2-s2.0-20244364399 | en_HK |
dc.identifier.hkuros | 97714 | en_HK |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-20244364399&selection=ref&src=s&origin=recordpage | en_HK |
dc.identifier.volume | 13 | en_HK |
dc.identifier.issue | 4 | en_HK |
dc.identifier.spage | 422 | en_HK |
dc.identifier.epage | 427 | en_HK |
dc.identifier.isi | WOS:000227858100009 | - |
dc.publisher.place | United Kingdom | en_HK |
dc.identifier.scopusauthorid | Xu, JY=8947805200 | en_HK |
dc.identifier.scopusauthorid | Dan, QH=8592046400 | en_HK |
dc.identifier.scopusauthorid | Chan, V=7202654865 | en_HK |
dc.identifier.scopusauthorid | Wat, NMS=6602131754 | en_HK |
dc.identifier.scopusauthorid | Tam, S=7202037323 | en_HK |
dc.identifier.scopusauthorid | Tiu, SC=7003310747 | en_HK |
dc.identifier.scopusauthorid | Lee, KF=8668509000 | en_HK |
dc.identifier.scopusauthorid | Siu, SC=8592047000 | en_HK |
dc.identifier.scopusauthorid | Tsang, MW=7102712282 | en_HK |
dc.identifier.scopusauthorid | Fung, LM=8592047200 | en_HK |
dc.identifier.scopusauthorid | Chan, KW=35188519500 | en_HK |
dc.identifier.scopusauthorid | Lam, KSL=8082870600 | en_HK |
dc.identifier.citeulike | 3757 | - |
dc.identifier.issnl | 1018-4813 | - |