Evidence map›Paper›PMID 20187968›Full record

ArticleBMC medical genetics2010

Evaluation of DOK5 as a susceptibility gene for type 2 diabetes and obesity in North Indian population.

Rubina Tabassum, Anubha Mahajan, Ganesh Chauhan, Om Prakash Dwivedi, Saurabh Ghosh, Nikhil Tandon, Dwaipayan Bharadwaj

Open access · goldAbstract read
In one paragraph

Article in BMC medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 1 pooled it
1.5field-weighted citation impact, top 16% of its field
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

22 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.

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4 · The record

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5 · Who and what money

Authors and funding

7 authors at 3 institutions in 1 country.

Rubina TabassumFunctional Genomics Unit, Institute of Genomics and Integrative Biology (CSIR), Delhi- 110 007, India.
Anubha Mahajan
Ganesh Chauhan
Om Prakash Dwivedi
Saurabh Ghosh
Nikhil Tandon
Dwaipayan Bharadwaj
Institute of Genomics and Integrative Biology · INAll India Institute of Medical Sciences · INIndian Statistical Institute · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundType 2 diabetes is a complex metabolic disorder with obesity being a major contributing factor in its development. Susceptibility loci for type 2 diabetes and obesity have been localized on different chromosomal regions by various genome-wide linkage scans. Of these chromosomal regions, 20q13 is one of the strongest linked regions for type 2 diabetes as well as obesity. On 20q13 lies DOK5 that seems to be a strong functional and positional candidate for type 2 diabetes and obesity because of its involvement in insulin signaling and immune responses. Hence, for the first time, we explored DOK5 as a potential type 2 diabetes and obesity susceptibility gene.

methodsWe sequenced 43 subjects for polymorphisms in functionally relevant regions of DOK5. A total of 10 SNPs that included 5 that were identified by sequencing and 5 additional SNPs from NCBI Variation Database were genotyped in 2,115 participants comprising of 1,073 patients with type 2 diabetes and 1,042 controls of Indo-European ethnicity from North India.

resultsWe identified a novel variant in intron 7 referred to as DK176673. We found nominal association of three SNPs-rs6064099 (OR = 0.75, P = 0.019), rs873079 (OR = 0.76, P = 0.036) and DK176673 (OR = 1.55, P = 0.037) with type 2 diabetes among normal-weight subjects [BMI < 23 kg/m2]. The haplotype GGC harboring rs6068916, rs6064099 and rs873079 showed strong association with type 2 diabetes among normal-weight subjects (OR = 1.37, P/Pperm = 5.8 x 10-3/0.037). Association analysis with obesity revealed that rs6064099 is associated with reduced susceptibility for obesity (OR = 0.48, P = 6.8 x 10-3). Also, haplotype GGC conferred increased susceptibility for obesity (OR = 1.27, P/Pperm = 9.0 x 10-3/0.039). Also, rs6064099 was significantly associated with reduced BMI [median(IQR) = 24.0(20.7-27.1) vs 23.9(20.2-26.8) vs 21.8(19.2-24.7) for GG vs GC vs CC, P = 7.0 x 10-3].

conclusionsWe identified DOK5 as a novel susceptibility gene for obesity and type 2 diabetes in North Indian subjects. Association of DOK5 variants both with obesity and type 2 diabetes suggests that these variants might modulate type 2 diabetes susceptibility through obesity.

Indexed as

Adaptor Proteins, Signal TransducingCase-Control StudiesChromosomes, Human, Pair 20Diabetes Mellitus, Type 2Genetic Predisposition to DiseaseHumansIndiaObesityPolymorphism, GeneticPolymorphism, Single NucleotideAdaptor Proteins, Signal TransducingDOK5 protein, human

Identifiers

PMID20187968
PMCPMC2848002
OpenAlexW2109211734

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.