Replication study identified EFEMP1 association with varicose vein predisposition among Indians

Area of Science:

• Genetics
• Vascular Biology
• Epidemiology

Background:

• Varicose veins are a prevalent chronic condition affecting lower extremities, influenced by factors like age, gender, and genetics.
• Genetic associations with varicose veins have been identified in various ethnic groups, but data for South Asians, particularly Indians, is limited despite high prevalence.
• This study addresses the need to replicate and investigate genetic variants linked to varicose veins in the Indian population.

Purpose of the Study:

• To replicate previously identified genetic variants associated with varicose veins in an Indian cohort.
• To explore novel genetic variants within the EFEMP1 gene contributing to varicose vein risk in Indians.
• To assess the cumulative effect of identified genetic variants on varicose vein susceptibility.

Main Methods:

• A cohort study involving 104 Indian varicose vein cases and 448 controls.
• Genotyping using the Illumina Global Screening Array.
• Selection of eight genetic variants based on data from UK BioBank and 23andMe cohorts.
• Allelic association analysis, odds ratio estimation, and p-value determination.
• Multifactor Dimensionality Reduction (MDR) to assess cumulative variant effects.

Main Results:

• The genetic variant rs3791679 in the EFEMP1 gene showed a significant association with varicose veins in Indians.
• Six additional novel variants within the EFEMP1 gene were identified as associated with varicose veins.
• The cumulative effect of associated EFEMP1 variants indicated a 2.7-fold higher risk in cases compared to controls, with individual variant effects ranging from 0.37 to 1.58.

Conclusions:

• The EFEMP1 gene is identified as a potential genetic risk factor for varicose veins in the Indian population.
• Evaluating multiple variants within a gene offers a more comprehensive understanding of genetic contributions to complex traits like varicose veins.
• This research underscores the importance of population-specific genetic studies for complex diseases.