Evidence map›Paper›PMID 38609985›Full record

ArticleEuropean journal of medical research2024

Replication study identified EFEMP1 association with varicose vein predisposition among Indians.

Rohit Mehra, Vikram Patra, Rishi Dhillan, Anuka Sharma, Sonal Kashyap, Garima Rastogi, Love Gupta, Reena Singh, Chirag Chopra, Varun Sharma

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of medical research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.6field-weighted citation impact, top 35% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Article
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

10 authors at 4 institutions in 1 country.

Rohit MehraDepartment of Vascular and Endovascular Surgery, Command Hospital (Southern Command), Pune, India. capocrimini.rohit@gmail.com.
Vikram PatraDepartment of Vascular and Endovascular Surgery, Command Hospital (Northern Command), Udhampur, India.
Rishi DhillanDepartment of Vascular and Endovascular Surgery, Army Hospital (Research and Referral), Delhi, India.
Anuka SharmaNMC Genetics India Pvt. Ltd. Gurugram, Haryana, 122001, India.
Sonal KashyapSchool of Bioengineering and Biosciences, Lovely Professional University, Phagwara, Punjab, India.
Garima RastogiNMC Genetics India Pvt. Ltd. Gurugram, Haryana, 122001, India.
Love GuptaNMC Genetics India Pvt. Ltd. Gurugram, Haryana, 122001, India.
Reena SinghSchool of Bioengineering and Biosciences, Lovely Professional University, Phagwara, Punjab, India.
Chirag ChopraSchool of Bioengineering and Biosciences, Lovely Professional University, Phagwara, Punjab, India.
Varun SharmaNMC Genetics India Pvt. Ltd. Gurugram, Haryana, 122001, India. sharmavarun840@gmail.com.
Lovely Professional University · INArmy Hospital Research and Referral · INCommand Hospital · INSouthern Command Hospital · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundVaricose vein is a chronic condition that affects the lower extremities of the human body. Several factors have been implicated in the development of this disease, viz age, gender, weight, height and prolonged standing. Recently, genome-wide studies have identified genetic biomarkers that are associated with varicose veins in different ethnic groups. Such genetic studies are lacking in South Asians specifically in Indians where the prevalence of varicose veins is high, and it is important to replicate these variants in the stated population. The study aimed to replicate the association of genetic variants associated with varicose veins in this target population, which were found to be associated with the other ethnic groups. METHODOLOGY: The studied cohort is of the Indian population comprising unrelated 104 varicose veins cases and 448 non-varicose vein controls. The samples were genotyped using the Illumina Global Screening Array. Using the genomic data from UK BioBank and 23andMe studied cohorts; eight genetic variants were selected to replicate in our dataset. The allelic association was performed to identify the effective allele and risk was estimated using odds ratio and p-value as level of significance. Multifactor Dimensionality Reduction was used to estimate the cumulative effect of variants in Indians.

resultVariant rs3791679 of EFEMP1 was found to be associated with varicose veins in Indians. After observing the association of the EFEMP1 with varicose veins, we further ensued to identify all genetic variants within EFEMP1 to uncover the additional variants associated with this trait. Interestingly, we identified six new variants of EFEMP1 gene that have shown association. Moreover, the cumulative effect of all associated variations was estimated and the risk was 2.7 times higher in cases than controls whereas independently their effect ranges from 0.37-1.58.

conclusionThis study identifies EFEMP1 as a potential gene related to the risk of varicose veins in Indians. It also highlights that evaluating the maximum number of variants of a gene rather than focusing solely on replicating single variations offers a more comprehensive and nuanced understanding of the genetic factors contributing to a complex trait like varicose veins.

Indexed as

EthnicityExtracellular Matrix ProteinsSouth Asian PeopleVaricose VeinsAllelesGenotypeHumansPhenotypeEFEMP1 protein, humanExtracellular Matrix ProteinsEFEMP1GenotypingIndiansVaricose veins

Identifiers

PMID38609985
PMCPMC11015598
OpenAlexW4394749505

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Registered trials

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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.