Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Apr 12;29(1):232.
doi: 10.1186/s40001-024-01786-8.

Replication study identified EFEMP1 association with varicose vein predisposition among Indians

Rohit Mehra  1 , Vikram Patra  2 , Rishi Dhillan  3 , Anuka Sharma  4 , Sonal Kashyap  5 , Garima Rastogi  4 , Love Gupta  4 , Reena Singh  5 , Chirag Chopra  5 , Varun Sharma  6
Affiliations

Replication study identified EFEMP1 association with varicose vein predisposition among Indians

Rohit Mehra et al. Eur J Med Res. .

Abstract

Background: Varicose 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.

Result: Variant 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.

Conclusion: This 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.

Keywords: EFEMP1; Genotyping; Indians; Varicose veins.

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. Additionally, it is important to note that Dr. Anuka Sharma, Love Gupta, Garima Rastogi, and Dr. Varun Sharma are affiliated with NMC Genetics India Pvt. Ltd., serving as its employees, for the purpose of disclosure.

Figures

Fig. 1
Fig. 1
Linkage disequilibrium observed among the six associated SNPs of EFEMP1 in Indians. rs59985551 and rs3791675 of EFEMP1 were observed to be in strong LD with r20.97
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Nael R, Rathbun S. Treatment of varicose veins. Curr Treat Options Cardiovasc Med. 2009;11(2):91–103. doi: 10.1007/s11936-009-0010-z. - DOI - PubMed
    1. Bergan JJ, et al. Chronic venous disease. N Engl J Med. 2006;355(5):488–498. doi: 10.1056/NEJMra055289. - DOI - PubMed
    1. Wang M, Sharma AK. Varicose veins. J Radiol Nurs. 2019;38(3):150–154. doi: 10.1016/j.jradnu.2019.04.004. - DOI
    1. Teruya TH, Ballard JL. New approaches for the treatment of varicose veins. Surg Clin N Am. 2004;84(5):1397–417, viii–ix. doi: 10.1016/j.suc.2004.04.008. - DOI - PubMed
    1. Campbell B. Varicose veins and their management. BMJ. 2006;333(7562):287–292. doi: 10.1136/bmj.333.7562.287. - DOI - PMC - PubMed

Substances

Supplementary concepts

LinkOut - more resources