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Polymorphisms in the gene encoding the voltage-dependent Ca(2+) channel Ca (V)2.3 (CACNA1E) are associated with type 2 diabetes and impaired insulin secretion.

https://arctichealth.org/en/permalink/ahliterature84135
Source
Diabetologia. 2007 Dec;50(12):2467-75
Publication Type
Article
Date
Dec-2007
Author
Holmkvist J.
Tojjar D.
Almgren P.
Lyssenko V.
Lindgren C M
Isomaa B.
Tuomi T.
Berglund G.
Renström E.
Groop L.
Author Affiliation
Department of Clinical Sciences-Diabetes and Endocrinology, CRC, Malmö University Hospital MAS, Lund University, Malmo, Sweden, johan.holmkvist@med.lu.se.
Source
Diabetologia. 2007 Dec;50(12):2467-75
Date
Dec-2007
Language
English
Publication Type
Article
Abstract
AIMS/HYPOTHESIS: Glucose-stimulated insulin secretion is dependent on the electrical activity of beta cells; hence, genes encoding beta cell ion channels are potential candidate genes for type 2 diabetes. The gene encoding the voltage-dependent Ca(2+) channel Ca(V)2.3 (CACNA1E), telomeric to a region that has shown suggestive linkage to type 2 diabetes (1q21-q25), has been ascribed a role for second-phase insulin secretion. METHODS: Based upon the genotyping of 52 haplotype tagging single nucleotide polymorphisms (SNPs) in a type 2 diabetes case-control sample (n = 1,467), we selected five SNPs that were nominally associated with type 2 diabetes and genotyped them in the following groups (1) a new case-control sample of 6,570 individuals from Sweden; (2) 2,293 individuals from the Botnia prospective cohort; and (3) 935 individuals with insulin secretion data from an IVGTT. RESULTS: The rs679931 TT genotype was associated with (1) an increased risk of type 2 diabetes in the Botnia case-control sample [odds ratio (OR) 1.4, 95% CI 1.0-2.0, p = 0.06] and in the replication sample (OR 1.2, 95% CI 1.0-1.5, p = 0.01 one-tailed), with a combined OR of 1.3 (95% CI 1.1-1.5, p = 0.004 two-tailed); (2) reduced insulin secretion [insulinogenic index at 30 min p = 0.02, disposition index (D (I)) p = 0.03] in control participants during an OGTT; (3) reduced second-phase insulin secretion at 30 min (p = 0.04) and 60 min (p = 0.02) during an IVGTT; and (4) reduced D (I) over time in the Botnia prospective cohort (p = 0.05). CONCLUSIONS/INTERPRETATION: We conclude that genetic variation in the CACNA1E gene contributes to an increased risk of the development of type 2 diabetes by reducing insulin secretion.
PubMed ID
17934712 View in PubMed
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Population structure in contemporary Sweden--a Y-chromosomal and mitochondrial DNA analysis.

https://arctichealth.org/en/permalink/ahliterature91037
Source
Ann Hum Genet. 2009 Jan;73(1):61-73
Publication Type
Article
Date
Jan-2009
Author
Lappalainen T.
Hannelius U.
Salmela E.
von Döbeln U.
Lindgren C M
Huoponen K.
Savontaus M-L
Kere J.
Lahermo P.
Author Affiliation
Finnish Genome Center, Institute for Molecular Medicine Finland, University of Helsinki, Tukholmankatu 8, P.O. Box 20, 00014 Helsinki, Finland.
Source
Ann Hum Genet. 2009 Jan;73(1):61-73
Date
Jan-2009
Language
English
Publication Type
Article
Keywords
Child
Chromosomes, Human, Y - genetics
DNA, Mitochondrial - genetics
European Continental Ancestry Group - genetics
Female
Genetics, Population
Genotype
Humans
Male
Polymorphism, Single Nucleotide
Sweden
Abstract
A population sample representing the current Swedish population was analysed for maternally and paternally inherited markers with the aim of characterizing genetic variation and population structure. The sample set of 820 females and 883 males were extracted and amplified from Guthrie cards of all the children born in Sweden during one week in 2003. 14 Y-chromosomal and 34 mitochondrial DNA SNPs were genotyped. The haplogroup frequencies of the counties closest to Finland, Norway, Denmark and the Saami region in the north exhibited similarities to the neighbouring populations, resulting from the formation of the Swedish nation during the past millennium. Moreover, the recent immigration waves of the 20th century are visible in haplogroup frequencies, and have led to increased diversity and divergence of the major cities. Signs of genetic drift can be detected in several counties in northern as well as in southern Sweden. With the exception of the most drifted subpopulations, the population structure in Sweden appears mostly clinal. In conclusion, our study yielded valuable information of the structure of the Swedish population, and demonstrated the usefulness of biobanks as a source of population genetic research. Our sampling strategy, nonselective on the current population rather than stratified according to ancestry, is informative for capturing the contemporary variation in the increasingly panmictic populations of the world.
PubMed ID
19040656 View in PubMed
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