IDENTIFICATION OF NOVEL VARIANTS IN THE HEPATOCYTE NUCLEAR FACTOR 1 ALPHA GENE IN SOUTH INDIAN PATIENTS WITH MATURITY ONSET DIABETES OF YOUNG

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Standard

IDENTIFICATION OF NOVEL VARIANTS IN THE HEPATOCYTE NUCLEAR FACTOR 1 ALPHA GENE IN SOUTH INDIAN PATIENTS WITH MATURITY ONSET DIABETES OF YOUNG. / Radha, V; Ek, J; Anuradha, S; Hansen, T; Pedersen, Oluf; Mohan, V.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 6, 2009, p. 1959-65.

Research output: Contribution to journalJournal articleResearchpeer-review

Harvard

Radha, V, Ek, J, Anuradha, S, Hansen, T, Pedersen, O & Mohan, V 2009, 'IDENTIFICATION OF NOVEL VARIANTS IN THE HEPATOCYTE NUCLEAR FACTOR 1 ALPHA GENE IN SOUTH INDIAN PATIENTS WITH MATURITY ONSET DIABETES OF YOUNG', Journal of Clinical Endocrinology and Metabolism, vol. 6, pp. 1959-65. https://doi.org/10.1210/jc.2008-2371

APA

Radha, V., Ek, J., Anuradha, S., Hansen, T., Pedersen, O., & Mohan, V. (2009). IDENTIFICATION OF NOVEL VARIANTS IN THE HEPATOCYTE NUCLEAR FACTOR 1 ALPHA GENE IN SOUTH INDIAN PATIENTS WITH MATURITY ONSET DIABETES OF YOUNG. Journal of Clinical Endocrinology and Metabolism, 6, 1959-65. https://doi.org/10.1210/jc.2008-2371

Vancouver

Radha V, Ek J, Anuradha S, Hansen T, Pedersen O, Mohan V. IDENTIFICATION OF NOVEL VARIANTS IN THE HEPATOCYTE NUCLEAR FACTOR 1 ALPHA GENE IN SOUTH INDIAN PATIENTS WITH MATURITY ONSET DIABETES OF YOUNG. Journal of Clinical Endocrinology and Metabolism. 2009;6:1959-65. https://doi.org/10.1210/jc.2008-2371

Author

Radha, V ; Ek, J ; Anuradha, S ; Hansen, T ; Pedersen, Oluf ; Mohan, V. / IDENTIFICATION OF NOVEL VARIANTS IN THE HEPATOCYTE NUCLEAR FACTOR 1 ALPHA GENE IN SOUTH INDIAN PATIENTS WITH MATURITY ONSET DIABETES OF YOUNG. In: Journal of Clinical Endocrinology and Metabolism. 2009 ; Vol. 6. pp. 1959-65.

Bibtex

@article{dc609ac02d9111de9f0a000ea68e967b,
title = "IDENTIFICATION OF NOVEL VARIANTS IN THE HEPATOCYTE NUCLEAR FACTOR 1 ALPHA GENE IN SOUTH INDIAN PATIENTS WITH MATURITY ONSET DIABETES OF YOUNG",
abstract = "Context: Mutations in the HNF 1A gene are the commonest cause of maturity-onset diabetes of the young (MODY) in most populations. India currently has the largest number of people with diabetes in the world and onset of type 2 diabetes occurs at a younger age with possible overlap with MODY. There is very little data on MODY mutations from India. Objective: The objective was to screen coding and promoter regions of HNF1A gene for mutations in unrelated South Indian subjects in whom a clinical diagnosis of MODY was made. Design: An observational cross-sectional study. Setting: A Diabetes Specialities Centre in Chennai, in southern India. Patients: Ninty-six unrelated south Indian subjects in whom clinical diagnosis of MODY was made were included in the study. The control population comprised of 57 unrelated non-diabetic subjects selected from the Chennai Urban Rural Epidemiology Study (CURES), a study conducted on a representative population (aged >/= 20 years) of Chennai. Results: We identified 9 novel variants comprising 7 mutations(one novel mutation -538G-->C at promoter region and six novel coding region mutations) and 2 polymorphisms in the HNF1A gene. Functional studies revealed reduced transcriptional activity of the HNF1A promoter for two of promoter variants. We also observed co-segregation with diabetes of the Arg263His coding region mutation in 8 members of one MODY family while it was absent in non-diabetic subjects of this family. Conclusion: This study suggests that mutations in HNF1Agene comprise about 9{\%} of clinically diagnosed MODY subjects in S. India and a novel Arg263His mutation cosegregates with MODY in one family.",
author = "V Radha and J Ek and S Anuradha and T Hansen and Oluf Pedersen and V Mohan",
year = "2009",
doi = "10.1210/jc.2008-2371",
language = "English",
volume = "6",
pages = "1959--65",
journal = "Journal of Clinical Endocrinology and Metabolism",
issn = "0021-972X",
publisher = "Oxford University Press",

}

RIS

TY - JOUR

T1 - IDENTIFICATION OF NOVEL VARIANTS IN THE HEPATOCYTE NUCLEAR FACTOR 1 ALPHA GENE IN SOUTH INDIAN PATIENTS WITH MATURITY ONSET DIABETES OF YOUNG

AU - Radha, V

AU - Ek, J

AU - Anuradha, S

AU - Hansen, T

AU - Pedersen, Oluf

AU - Mohan, V

PY - 2009

Y1 - 2009

N2 - Context: Mutations in the HNF 1A gene are the commonest cause of maturity-onset diabetes of the young (MODY) in most populations. India currently has the largest number of people with diabetes in the world and onset of type 2 diabetes occurs at a younger age with possible overlap with MODY. There is very little data on MODY mutations from India. Objective: The objective was to screen coding and promoter regions of HNF1A gene for mutations in unrelated South Indian subjects in whom a clinical diagnosis of MODY was made. Design: An observational cross-sectional study. Setting: A Diabetes Specialities Centre in Chennai, in southern India. Patients: Ninty-six unrelated south Indian subjects in whom clinical diagnosis of MODY was made were included in the study. The control population comprised of 57 unrelated non-diabetic subjects selected from the Chennai Urban Rural Epidemiology Study (CURES), a study conducted on a representative population (aged >/= 20 years) of Chennai. Results: We identified 9 novel variants comprising 7 mutations(one novel mutation -538G-->C at promoter region and six novel coding region mutations) and 2 polymorphisms in the HNF1A gene. Functional studies revealed reduced transcriptional activity of the HNF1A promoter for two of promoter variants. We also observed co-segregation with diabetes of the Arg263His coding region mutation in 8 members of one MODY family while it was absent in non-diabetic subjects of this family. Conclusion: This study suggests that mutations in HNF1Agene comprise about 9% of clinically diagnosed MODY subjects in S. India and a novel Arg263His mutation cosegregates with MODY in one family.

AB - Context: Mutations in the HNF 1A gene are the commonest cause of maturity-onset diabetes of the young (MODY) in most populations. India currently has the largest number of people with diabetes in the world and onset of type 2 diabetes occurs at a younger age with possible overlap with MODY. There is very little data on MODY mutations from India. Objective: The objective was to screen coding and promoter regions of HNF1A gene for mutations in unrelated South Indian subjects in whom a clinical diagnosis of MODY was made. Design: An observational cross-sectional study. Setting: A Diabetes Specialities Centre in Chennai, in southern India. Patients: Ninty-six unrelated south Indian subjects in whom clinical diagnosis of MODY was made were included in the study. The control population comprised of 57 unrelated non-diabetic subjects selected from the Chennai Urban Rural Epidemiology Study (CURES), a study conducted on a representative population (aged >/= 20 years) of Chennai. Results: We identified 9 novel variants comprising 7 mutations(one novel mutation -538G-->C at promoter region and six novel coding region mutations) and 2 polymorphisms in the HNF1A gene. Functional studies revealed reduced transcriptional activity of the HNF1A promoter for two of promoter variants. We also observed co-segregation with diabetes of the Arg263His coding region mutation in 8 members of one MODY family while it was absent in non-diabetic subjects of this family. Conclusion: This study suggests that mutations in HNF1Agene comprise about 9% of clinically diagnosed MODY subjects in S. India and a novel Arg263His mutation cosegregates with MODY in one family.

U2 - 10.1210/jc.2008-2371

DO - 10.1210/jc.2008-2371

M3 - Journal article

VL - 6

SP - 1959

EP - 1965

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

SN - 0021-972X

ER -

ID: 11953632