Evidence map›Paper›PMID 26483964›Full record

ArticleActa naturae

Genomic Study of Cardiovascular Continuum Comorbidity.

O A Makeeva, A A Sleptsov, E V Kulish, O L Barbarash, A M Mazur, E B Prokhorchuk, N N Chekanov, V A Stepanov, V P Puzyrev

Open access · bronzeAbstract read
In one paragraph

Article in Acta naturae. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
1.3field-weighted citation impact, top 19% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.

  1. Pooled it
  2. Molecular function of Krüppel-like factor 7 in biology.Acta biochimica et biophysica Sinica · 2023
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 4 institutions in 1 country.

O A MakeevaResearch Institute of Medical Genetics, Nab. Ushayki, 10, Tomsk, 634050, Russia ; Research Institute for Complex Issues of Cardiovascular Diseases, Sosnovy Blvd., 6, Kemerovo, 650000, Russia.
A A SleptsovResearch Institute of Medical Genetics, Nab. Ushayki, 10, Tomsk, 634050, Russia.
E V KulishResearch Institute of Medical Genetics, Nab. Ushayki, 10, Tomsk, 634050, Russia.
O L BarbarashResearch Institute for Complex Issues of Cardiovascular Diseases, Sosnovy Blvd., 6, Kemerovo, 650000, Russia.
A M MazurGenoanalitika, Leninskie Gory, 1/77, Off. 102, Moscow, 119234, Russia.
E B ProkhorchukGenoanalitika, Leninskie Gory, 1/77, Off. 102, Moscow, 119234, Russia.
N N ChekanovGenoanalitika, Leninskie Gory, 1/77, Off. 102, Moscow, 119234, Russia.
V A StepanovResearch Institute of Medical Genetics, Nab. Ushayki, 10, Tomsk, 634050, Russia.
V P PuzyrevResearch Institute of Medical Genetics, Nab. Ushayki, 10, Tomsk, 634050, Russia ; Siberian State Medical University, Moskovskiy Trakt, 2, Tomsk, 634050, Russia.
Lomonosov Moscow State University · RUResearch Institute of Medical Genetics of Russian Academy of Medical Sciences · RUKemerovo State University · RUSiberian State Medical University · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Comorbidity or a combination of several diseases in the same individual is a common and widely investigated phenomenon. However, the genetic background for non-random disease combinations is not fully understood. Modern technologies and approaches to genomic data analysis enable the investigation of the genetic profile of patients burdened with several diseases (polypathia, disease conglomerates) and its comparison with the profiles of patients with single diseases. An association study featuring three groups of patients with various combinations of cardiovascular disorders and a control group of relatively healthy individuals was conducted. Patients were selected as follows: presence of only one disease, ischemic heart disease (IHD); a combination of two diseases, IHD and arterial hypertension (AH); and a combination of several diseases, including IHD, AH, type 2 diabetes mellitus (T2DM), and hypercholesterolemia (HC). Genotyping was performed using the "My Gene" genomic service (www.i-gene.ru). An analysis of 1,400 polymorphic genetic variants and their associations with the studied phenotypes are presented. A total of 14 polymorphic variants were associated with the phenotype "IHD only," including those in the APOB, CD226, NKX2-5, TLR2, DPP6, KLRB1, VDR, SCARB1, NEDD4L, and SREBF2 genes, and intragenic variants rs12487066, rs7807268, rs10896449, and rs944289. A total of 13 genetic markers were associated with the "IHD and AH" phenotype, including variants in the BTNL2, EGFR, CNTNAP2, SCARB1, and HNF1A genes, and intragenic polymorphisms rs801114, rs10499194, rs13207033, rs2398162, rs6501455, and rs1160312. A total of 14 genetic variants were associated with a combination of several diseases of cardiovascular continuum (CVC), including those in the TAS2R38, SEZ6L, APOA2, KLF7, CETP, ITGA4, RAD54B, LDLR, and MTAP genes, along with intragenic variants rs1333048, rs1333049, and rs6501455. One common genetic marker was identified for the "IHD only" and "IHD and AH" phenotypes: rs4765623 in the SCARB1 gene; two common genetic markers, rs663048 in SEZ6L and intragenic rs6501455, were identified for the "IHD and AH" phenotype and a combination of several diseases (syntropy); there were no common genetic markers for the "syntropy" and "IHD only" phenotypes. Classificatory analysis of the relationships between the associated genes and metabolic pathways revealed that lipid-metabolizing genes are involved in the development of all three CVC variants, whereas immunity-response genes are specific to the "IHD only" phenotype. The study demonstrated that comorbidity presents additional challenges in association studies of disease predisposition, since the genetic profile of combined forms of pathology can be markedly different from those for isolated "single" forms of a disease.

Indexed as

association studiescardiovascular continuumcomorbiditygenetic polymorphismmultifactorial diseasessyntropy

Identifiers

PMID26483964
PMCPMC4610169
OpenAlexW1748464443

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.