Evidence map›Paper›PMID 40369544›Full record

ArticleOrphanet journal of rare diseases2025

Genetic variants of SLC6A4 and risk of coronary artery disease: insights from North Indian population.

Jyotdeep Kour Raina, Minakashee Sharma, Ravi Sharma, Rohit Bhardwaj, Parvinder Kumar, Santasree Banerjee, Rakesh Kumar Panjaliya

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Article in Orphanet journal of rare diseases, 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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7 authors.

Jyotdeep Kour RainaDepartment of Human Genetics, Government Gandhi Memorial Science College, Cluster University of Jammu, Jammu & Kashmir, Jammu, 180016, India.
Minakashee SharmaInstitute of Human Genetics, University of Jammu, Jammu & Kashmir, Jammu, 180016, India.
Ravi SharmaDepartment of Zoology, University of Jammu, Jammu & Kashmir, Jammu, 180016, India.
Rohit BhardwajDepartment of Zoology, Government Gandhi Memorial Science College, Cluster University of Jammu, Jammu & Kashmir, Jammu, 180016, India.
Parvinder KumarInstitute of Human Genetics, University of Jammu, Jammu & Kashmir, Jammu, 180016, India.
Santasree BanerjeeDepartment of Genetics, College of Basic Medical Sciences, Jilin University, No.126 Xinmin Street, Changchun, 130021, Jilin, China. santasree.banerjee@yahoo.com.ORCID http://orcid.org/0000-0003-2481-4562
Rakesh Kumar PanjaliyaDepartment of Zoology, University of Jammu, Jammu & Kashmir, Jammu, 180016, India. rakeshpanjaliya@jammuuniversity.ac.in.

Funding

University of Jammu N/A
6 · The paper itself

Abstract

backgroundThe activity of SLC6A4 is influenced by its polymorphisms, including the length variation in serotonin transporter linked promoter region (5-HTTLPR), a single nucleotide polymorphism (rs25531), and variable number of tandem repeats in serotonin transporter intronic enhancer (STin2). These polymorphisms have been implicated in the development of vascular diseases. Our research aimed to determine whether the bi-allelic 5-HTTLPR, tri-allelic 5-HTTLPR (rs25531), and STin2 polymorphisms of SLC6A4 were associated with an increased risk of coronary artery disease (CAD) in the North Indian population of Jammu region in Jammu and Kashmir state of India.

methodsIn this study, we performed a large cohort case-control study. Here, we recruited 400 patients clinically diagnosed with CAD, and 400 unrelated healthy individuals with similar sex and age range. We performed Polymerase Chain Reaction (PCR) for genotyping the 5-HTTLPR and STin2 polymorphisms. In addition, PCR- Restriction Fragment Length polymorphism (RFLP) was used to perform restriction fragment length polymorphism for the rs25531. Finally, we performed statistical analysis with the yield data.

resultsThe L-allele of 5-HTTLPR was significantly associated with CAD susceptibility, with an odd ratio (OR) of 1.39 and a p-value of 0.01. However, no significant association was identified for the tri-allelic 5-HTTLPR (rs25531) and STin2 polymorphism with the susceptibility of CAD. The haplotype combinations associated with CAD outcomes include L-12 and LA-10.

conclusionsAlthough, majority of the previous studies have evaluated the association of 5-HTTLPR biallelic polymorphism with CAD, our findings suggested that the tri-allelic 5-HTTLPR (rs25531) is a more reliable candidate than the bi-allelic 5-HTTLPR, as studying the bi-allelic version alone may generate association bias. Based on the results of this study, the rs25531 and STin2 polymorphisms indicated that the SLC6A4 gene does not contribute to the development of CAD in the population of the of Jammu region in Jammu and Kashmir state of India.

Indexed as

Coronary Artery DiseaseSerotonin Plasma Membrane Transport ProteinsAdultAgedCase-Control StudiesFemaleGenetic Predisposition to DiseaseGenotypeHumansIndiaMaleMiddle AgedPolymorphism, Single NucleotideSerotonin Plasma Membrane Transport ProteinsSLC6A4 protein, human5-HTT5-HTTLPRCardiovascular diseaseCoronary artery diseasePolymorphismrs25531SLC6A4 geneSTin2

Identifiers

PMID40369544
PMCPMC12079941

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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.