Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection.
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Adlam David, Olson Timothy M, Combaret Nicolas, Kovacic Jason C, Iismaa Siiri E, Al-Hussaini Abtehale, O'Byrne Megan M, Bouajila Sara, Georges Adrien, Mishra Ketan, Braund Peter S, d'Escamard Valentina, Huang Siying, Margaritis Marios, Nelson Christopher P, de Andrade Mariza, Kadian-Dodov Daniella, Welch Catherine A, Mazurkiewicz Stephani, Jeunemaitre Xavier, DISCO Consortium, Wong Claire Mei Yi, Giannoulatou Eleni, Sweeting Michael, Muller David, Wood Alice, McGrath-Cadell Lucy, Fatkin Diane, Dunwoodie Sally L, Harvey Richard, Holloway Cameron, Empana Jean-Philippe, Jouven Xavier, CARDIoGRAMPlusC4D Study Group, Olin Jeffrey W, Gulati Rajiv, Tweet Marysia S, Hayes Sharonne N, Samani Nilesh J, Graham Robert M, Motreff Pascal, Bouatia-Naji Nabila
Аннотация
OBJECTIVES: This study sought to test the association between the rs9349379 genotype and SCAD.
METHODS: Results from case control studies from France, United Kingdom, United States, and Australia were analyzed to test the association with SCAD risk, including age at first event, pregnancy-associated SCAD (P-SCAD), and recurrent SCAD.
RESULTS: The previously reported risk allele for FMD (rs9349379-A) was associated with a higher risk of SCAD in all studies. In a meta-analysis of 1,055 SCAD patients and 7,190 controls, the odds ratio (OR) was 1.67 (95% confidence interval [CI]: 1.50 to 1.86) per copy of rs9349379-A. In a subset of 491 SCAD patients, the OR estimate was found to be higher for the association with SCAD in patients without FMD (OR: 1.89; 95% CI: 1.53 to 2.33) than in SCAD cases with FMD (OR: 1.60; 95% CI: 1.28 to 1.99). There was no effect of genotype on age at first event, P-SCAD, or recurrence.
CONCLUSIONS: The first genetic risk factor for SCAD was identified in the largest study conducted to date for this condition. This genetic link may contribute to the clinical overlap between SCAD and FMD.