Lack of association between gene variants in the ALMS1 gene and Type 2 diabetes mellitus

Hart, Leen M ’t; Dekker, J.; Heine, Robert J.; Maassen, J. A.

doi:10.1007/s00125-003-1138-0

Cited by 15 publications

(8 citation statements)

References 6 publications

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“…Our results confirm the findings of a previous small case-control study looking for association between ALMS1 and type 2 diabetes [10]. This group studied the gene variants D2672H, R2826S and R4029K in 188 type 2 diabetes patients and 167 age-matched normoglycaemic controls.…”

Section: Discussionsupporting

confidence: 78%

Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population

et al. 2006

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Section: Discussionsupporting

confidence: 78%

Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population

et al. 2006

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“…To explore the role of ALMS1 in metabolic phenotypes further, we reanalyzed the results from a number of genomewide association studies for type 2 diabetes (t Hart et al 2003;Patel et al 2006;Wellcome Trust Case Control Consortium 2007;Saxena et al 2007), none of which implicate the ALMS1 region. However, 18 metabolic traits were measured in Saxena et al (2007) that were not extensively discussed in the original publication.…”

Section: Discussionmentioning

confidence: 99%

Population Genomic Analysis of ALMS1 in Humans Reveals a Surprisingly Complex Evolutionary History

Scheinfeldt

Biswas

Madeoy

et al. 2009

Molecular Biology and Evolution

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Mutations in the human gene ALMS1 result in Alström Syndrome, which presents with early childhood obesity and insulin resistance leading to Type 2 diabetes. Previous genomewide scans for selection in the HapMap data based on linkage disequilibrium and population structure suggest that ALMS1 was subject to recent positive selection. Through a detailed population genomic analysis of existing genomewide data sets and new resequencing data obtained in geographically diverse populations, we find that the signature of selection at ALMS1 is considerably more complex than what would be expected for an idealized model of a selective sweep acting on a newly arisen advantageous mutation. Specifically, we observed three highly divergent and globally dispersed haplogroups, two of which carry a set of seven derived nonsynonymous single nucleotide polymorphisms that are nearly fixed in Asian populations. Our data suggest that the interaction of human demographic history and positive selection on standing variation in Eurasian populations approximately 15 thousand years ago parsimoniously explains the spectrum of extant ALMS1 variation. These results provide new insights into the evolutionary history of ALMS1 in humans and suggest that selective events identified in genomewide scans may be more complex than currently appreciated.

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“…In three small genotype–phenotype correlation studies, t'Hart et al. (), Bond et al. (), and Patel et al.…”

Section: Clinical Relevancementioning

confidence: 99%

Alström Syndrome: Mutation Spectrum ofALMS1

et al. 2015

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Alström Syndrome, a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typically characterized by multi-system involvement including early cone-rod retinal dystrophy and blindness, hearing loss, childhood obesity, type 2 diabetes mellitus, cardiomyopathy, fibrosis and multiple organ failure. The precise function of ALMS1 remains elusive, but roles in endosomal and ciliary transport and cell cycle regulation have been shown. The aim of our study was to further define the spectrum of ALMS1 mutations in patients with clinical features of Alström Syndrome. Mutational analysis in a world-wide cohort of 204 families identified 109 novel mutations, extending the number of known ALMS1 mutations to 239 and highlighting the allelic heterogeneity of this disorder. This study represents the most comprehensive mutation analysis in patients with Alström Syndrome, identifying the largest number of novel mutations in a single study worldwide. Here, we also provide an overview of all ALMS1 mutations identified to date.

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Lack of association between gene variants in the ALMS1 gene and Type 2 diabetes mellitus

Cited by 15 publications

References 6 publications

Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population

Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population

Population Genomic Analysis of ALMS1 in Humans Reveals a Surprisingly Complex Evolutionary History

Alström Syndrome: Mutation Spectrum ofALMS1

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