Frontiers in Endocrinology (Feb 2024)

The impact of SLCO1B1 rs4149056 on LDL-C target achievement after lipid lowering therapy optimization in men and women with familial hypercholesterolemia

  • Giosiana Bosco,
  • Francesco Di Giacomo Barbagallo,
  • Maurizio Di Marco,
  • Nicoletta Miano,
  • Sabrina Scilletta,
  • Salvatore Spampinato,
  • Alessio Vitale,
  • Federica Di Bella,
  • Maria Montalbano,
  • Stefania Di Mauro,
  • Agnese Filippello,
  • Alessandra Scamporrino,
  • Agostino Milluzzo,
  • Antonino Di Pino,
  • Lucia Frittitta,
  • Francesco Purrello,
  • Salvatore Piro,
  • Roberto Scicali

DOI
https://doi.org/10.3389/fendo.2024.1346152
Journal volume & issue
Vol. 15

Abstract

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Background and aimsFH women are less likely to receive intensive statin treatment and to obtain a 50% reduction of LDL-C from baseline compared to men with FH. SLCO1B1 rs4149056 might influence statin therapy compliance and thus LDL-C target achievement. Our aim was to evaluate the impact of SLCO1B1 rs4149056 on LDL-C target achievement after lipid lowering therapy (LLT) optimization in men and women with FH.MethodsThis was a retrospective observational study involving 412 FH subjects with a probable or defined clinical diagnosis of FH who had had genetic analysis from June 2016 to September 2022. Biochemical analysis was obtained from all subjects at baseline and at the last follow-up after LLT optimization.ResultsAfter LLT optimization the percentage of FH subjects on high-intensity statins decreased from the M/SLCO1B1- group to the W/SLCO1B1+ group and the same was found in LDL-C target distribution (for both p for trend < 0.01). The prevalence of SASE fear increased from the M/SLCO1B1- group to the W/SLCO1B1+ group and the same was observed in reported myalgia distribution (for both p for trend < 0.01). Logistic regression analysis showed that the W/SCLO1B1-, M/SCLO1B1+ and W/SCLO1B1+ groups were inversely associated with LDL-C target achievement (p for trend < 0.001) and the W/SCLO1B1+ group exhibited the strongest association.ConclusionA low prevalence of FH women with SLCO1B1 rs4149056 were on high intensity statins and they rarely achieved LDL-C target. The genotype effect of SLCO1B1 rs4149056 could be more pronounced in FH women than men.

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