Evidence map›Paper›PMID 40108671›Full record

ArticleBiological research2025

Interactive and evolutionary effect of CASZ1 gene variants on varicose veins susceptibility in South Asian Indians.

Rohit Mehra, Vikram Patra, Rishi Dhillan, Dattatraya Cvnm, Hemender Singh, Love Gupta, Garima Rastogi, Indu Sharma, Varun Sharma

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Article in Biological research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Rohit Mehra *Department of Vascular and Endovascular Surgery, Command Hospital (Southern Command), Pune, India. capocrimini.rohit@gmail.com.
Vikram PatraDepartment of Vascular and Endovascular Surgery, 92-Base Hospital, Jammu, Kashmir, India.
Rishi DhillanDepartment of Vascular and Endovascular Surgery, Army Hospital (Research and Referral), New Delhi, India.
Dattatraya CvnmDepartment of Vascular and Endovascular Surgery, Army Hospital (Research and Referral), New Delhi, India.
Hemender SinghNMC Genetics India Pvt. Ltd, Gurugram, Haryana, India.
Love GuptaNMC Genetics India Pvt. Ltd, Gurugram, Haryana, India.
Garima RastogiNMC Genetics India Pvt. Ltd, Gurugram, Haryana, India.
Indu SharmaKeck School of Medicine, University of Southern California, Los Angeles, USA.
Varun SharmaNMC Genetics India Pvt. Ltd, Gurugram, Haryana, India. sharmavarun840@gmail.com.ORCID http://orcid.org/0000-0002-6314-4613

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundVaricose veins (VV) are spectrum of common vascular diseases having complex genetic etiology. The Castor Zinc Finger 1 (CASZ1) gene has been involved in vascular development and its variant has shown association with VV in various ethnicities, but CASZ1 susceptibility to VV risk is unexplored in the South Asian Indian population. The objective of this study was to estimate the association of the CASZ1 gene variations and VV susceptibility in the South Asian Indians, and to examine the evolutionary patterns of these variants compared to other populations. METHODOLOGY: Population based case control analysis was conducted on all CASZ1 variants present in the Global Screening Array, including the established VV variant rs11121615 with a focus on validating and identification of both novel and established genetic markers to capture a full spectrum of population-specific genetic markers unique to studied population group. Linkage disequilibrium patterns and cumulative variant effects were also analyzed, followed by selection pressure assessment using neutrality tests.

resultsThree CASZ1 variants rs72860191 (OR 1.58, 95% CI 1.07-2.32, p = 0.01), rs7519604 (OR 1.43, 95% CI 1.05-1.94, p = 0.01), and rs11121615 (OR 0.69, 95% CI 0.50-0.95, p = 0.02) were observed to be significantly associated with VV. Haplotype analysis identified unique haplotype structure of South Asian Indians compared to other global populations. Moreover, the cumulative OR was observed to be higher than the independently estimated values (OR = 2.41, 95% CI 1.48-3.94), indicating genotypic epistasis of VV associated variants. The neutrality tests revealed balancing selection within CASZ1 in the studied population compared to other populations,

conclusionThe present study identified CASZ1 variants and their epistatic interactions is associated with VV susceptibility supported with evidence of balancing selection, provides crucial insights into the genetic architecture of VV in studied group, highlighting the impact of evolutionary forces on disease susceptibility.

Indexed as

DNA-Binding ProteinsGenetic Predisposition to DiseaseTranscription FactorsVaricose VeinsAdultCase-Control StudiesFemaleGenetic VariationHumansIndiaLinkage DisequilibriumMaleMiddle AgedPolymorphism, Single NucleotideSouth Asian PeopleDNA-Binding ProteinsTranscription FactorsCASZ1 geneChronic venous diseasesSouth Asian IndiansVaricose veins

Identifiers

PMID40108671
PMCPMC11921479

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