Impact of Genetic Testing Among Patients With Familial Hypercholesterolemia on Adverse Cardiovascular Events ― The Hokuriku-Plus Familial Hypercholesterolemia Registry Study ―
Abstract
BACKGROUND: We aimed to clarify the impact of genetic testing on major adverse cardiovascular events (MACE) among patients with heterozygous familial hypercholesterolemia (HeFH) using data from the Hokuriku-plus FH Registry (UMIN000038210). METHODS AND RESULTS: In all, 431 patients were enrolled in the study, with a median follow-up of 3.9 years. The primary outcome was time to first MACE, defined as cardiovascular death, non-fatal myocardial infarction, coronary revascularization, or non-fatal stroke. Using Cox proportional hazards regression models, we examined whether undergoing genetic testing was associated with a reduced risk of MACE. Among the 431 patients, sufficient data were available for 386 with HeFH, of whom 202 (52.3%) underwent genetic testing. Low-density lipoprotein cholesterol (LDL-C) levels at follow-up were significantly lower in group that underwent genetic testing than in the group that did not (median 102 vs. 130 mg/dL, respectively; P<0.001). During follow-up, 23 MACE occurred (18 in the non-testing group and 5 in the genetic testing group). Notably, undergoing genetic testing was significantly associated with a reduced risk of MACE, even after adjusting for LDL-C levels (hazard ratio 0.66; 95% confidence interval 0.20-0.92; P=0.033). CONCLUSIONS: Genetic testing in patients with HeFH was associated with a reduced risk of MACE independent of LDL-C. Randomized controlled trials will be needed to clarify whether providing genetic testing can reduce MACE among patients with HeFH.
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BibTeX
@article{tada2026impact,
title = {{Impact of Genetic Testing Among Patients With Familial Hypercholesterolemia on Adverse Cardiovascular Events ― The Hokuriku-Plus Familial Hypercholesterolemia Registry Study ―}},
author = {Hayato Tada and Yasuaki Takeji and Chiaki Goten and Hirofumi Okada and Shohei Yoshida and Masaya Shimojima and Akihiro Nomura and Mika Mori and Shin-ichiro Takashima and Takeshi Kato and Soichiro Usui and Kenji Sakata and Kenshi Hayashi and Noboru Fujino and Katsuhiko Nagase and Masa-aki Kawashiri and Masayuki Takamura and on behalf of the Hokuriku-plus Familial Hypercholesterolemia Registry Study Group},
journal = {Circulation Journal},
year = {2026},
month = jul,
doi = {10.1253/circj.cj-25-1189},
url = {https://www.jstage.jst.go.jp/article/circj/90/8/90_CJ-25-1189/_article},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Impact of Genetic Testing Among Patients With Familial Hypercholesterolemia on Adverse Cardiovascular Events ― The Hokuriku-Plus Familial Hypercholesterolemia Registry Study ―
AU - Hayato Tada
AU - Yasuaki Takeji
AU - Chiaki Goten
AU - Hirofumi Okada
AU - Shohei Yoshida
AU - Masaya Shimojima
AU - Akihiro Nomura
AU - Mika Mori
AU - Shin-ichiro Takashima
AU - Takeshi Kato
AU - Soichiro Usui
AU - Kenji Sakata
AU - Kenshi Hayashi
AU - Noboru Fujino
AU - Katsuhiko Nagase
AU - Masa-aki Kawashiri
AU - Masayuki Takamura
AU - on behalf of the Hokuriku-plus Familial Hypercholesterolemia Registry Study Group
PY - 2026
DA - 2026/07/24
JO - Circulation Journal
DO - 10.1253/circj.cj-25-1189
UR - https://www.jstage.jst.go.jp/article/circj/90/8/90_CJ-25-1189/_article
AB - BACKGROUND: We aimed to clarify the impact of genetic testing on major adverse cardiovascular events (MACE) among patients with heterozygous familial hypercholesterolemia (HeFH) using data from the Hokuriku-plus FH Registry (UMIN000038210). METHODS AND RESULTS: In all, 431 patients were enrolled in the study, with a median follow-up of 3.9 years. The primary outcome was time to first MACE, defined as cardiovascular death, non-fatal myocardial infarction, coronary revascularization, or non-fatal stroke. Using Cox proportional hazards regression models, we examined whether undergoing genetic testing was associated with a reduced risk of MACE. Among the 431 patients, sufficient data were available for 386 with HeFH, of whom 202 (52.3%) underwent genetic testing. Low-density lipoprotein cholesterol (LDL-C) levels at follow-up were significantly lower in group that underwent genetic testing than in the group that did not (median 102 vs. 130 mg/dL, respectively; P<0.001). During follow-up, 23 MACE occurred (18 in the non-testing group and 5 in the genetic testing group). Notably, undergoing genetic testing was significantly associated with a reduced risk of MACE, even after adjusting for LDL-C levels (hazard ratio 0.66; 95% confidence interval 0.20-0.92; P=0.033). CONCLUSIONS: Genetic testing in patients with HeFH was associated with a reduced risk of MACE independent of LDL-C. Randomized controlled trials will be needed to clarify whether providing genetic testing can reduce MACE among patients with HeFH.
SN - 1347-4820
SN - 1346-9843
ER -