PCSK9 c.10G>A ;(p.V4I)

Variant ID: 1-55505520-G-A

NM_174936.3(PCSK9):c.10G>A;(p.V4I)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Characterization of Polyvascular Disease in Heterozygous Familial Hypercholesterolemia: Its Association With Circulating Lipoprotein(a) Levels.

Journal Of The American Heart Association
Funabashi, Sayaka S; Kataoka, Yu Y; Hori, Mika M; Ogura, Masatsune M; Doi, Takahito T; Noguchi, Teruo T; Harada-Shiba, Mariko M
Publication Date: 2022-08-16

Variant appearance in text: PCSK9: 10G>A; rs186669805
PubMed Link: 35929461
Variant Present in the following documents:
  • JAH3-11-e025232.pdf
  • JAH3-11-e025232-s001.pdf
View BVdb publication page



Multi-site desmoplastic small round cell tumors are genetically related and immune-cold.

Npj Precision Oncology
Wu, Chia-Chin CC; Beird, Hannah C HC; Lamhamedi-Cherradi, Salah-Eddine SE; Soeung, Melinda M; Ingram, Davis D; Truong, Danh D DD; Porter, Robert W RW; Krishnan, Sandhya S; Little, Latasha L; Gumbs, Curtis C; Zhang, Jianhua J; Titus, Mark M; Genovese, Giannicola G; Ludwig, Joseph A JA; Lazar, Alexander J AJ; Hayes-Jordan, Andrea A; Futreal, P Andrew PA
Publication Date: 2022-04-04

Variant appearance in text: PCSK9: V4I; rs186669805
PubMed Link: 35379887
Variant Present in the following documents:
  • 41698_2022_257_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



LDL-cholesterol and PCSK9 in patients with familial hypercholesterolemia: influence of PCSK9 variants under lipid-lowering therapy.

Journal Of Clinical Laboratory Analysis
Hamasaki, Masato M; Sakane, Naoki N; Hara, Kazuo K; Kotani, Kazuhiko K
Publication Date: 2021-11

Variant appearance in text: PCSK9: V4I
PubMed Link: 34652028
Variant Present in the following documents:
  • Main text
  • JCLA-35-e24056.pdf
View BVdb publication page



Universal Screening for Familial Hypercholesterolemia in Children in Kagawa, Japan.

Journal Of Atherosclerosis And Thrombosis
Matsunaga, Keiji K; Mizobuchi, Asako A; Ying Fu, Hai H; Ishikawa, Shohei S; Tada, Hayato H; Kawashiri, Masa-Aki MA; Yokota, Ichiro I; Sasaki, Tsuyoshi T; Ito, Shigeru S; Kunikata, Jun J; Iwase, Takashi T; Hirao, Tomohiro T; Yokoyama, Katsunori K; Hoshikawa, Yoichi Y; Fujisawa, Takuji T; Dobashi, Kazushige K; Kusaka, Takashi T; Minamino, Tetsuo T
Publication Date: 2022-06-01

Variant appearance in text: PCSK9: Val4Ile
PubMed Link: 34176852
Variant Present in the following documents:
  • jat-29-839.pdf
View BVdb publication page



Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia.

Journal Of The American Heart Association
Doi, Takahito T; Hori, Mika M; Harada-Shiba, Mariko M; Kataoka, Yu Y; Onozuka, Daisuke D; Nishimura, Kunihiro K; Nishikawa, Ryo R; Tsuda, Kosuke K; Ogura, Masatsune M; Son, Cheol C; Miyamoto, Yoshihiro Y; Noguchi, Teruo T; Shimokawa, Hiroaki H; Yasuda, Satoshi S
Publication Date: 2021-02-16

Variant appearance in text: PCSK9: Val4Ile
PubMed Link: 33533259
Variant Present in the following documents:
  • Main text
  • JAH3-10-e018263.pdf
  • JAH3-10-e018263-s001.pdf
View BVdb publication page



Hokuriku-plus familial hypercholesterolaemia registry study: rationale and study design.

Bmj Open
Tada, Hayato H; Okada, Hirofumi H; Yoshida, Shohei S; Shimojima, Masaya M; Nomura, Akihiro A; Tsuda, Toyonobu T; Mori, Mika M; Takashima, Shin-Ichiro SI; Kato, Takeshi T; Usui, Soichiro S; Sakata, Kenji K; Hayashi, Kenshi K; Fujino, Noboru N; Inazu, Akihiro A; Takahara, Shizuko S; Imai, Yasuhito Y; Matsubara, Takao T; Nohara, Atsushi A; Miwa, Kenji K; Namura, Masanobu M; Terai, Hidenobu H; Yoshida, Taiji T; Araki, Tsutomu T; Minamoto, Masahiro M; Aburao, Toru T; Ito, Yuji Y; Nakanishi, Chiaki C; Kawasaki, Suguru S; Todo, Yasuhiro Y; Koizumi, Junji J; Kita, Yoshihito Y; Matsumoto, Hiroshi H; Shintaku, Hiroaki H; Hodatsu, Akihiko A; Ino, Hidekazu H; Higashikata, Toshinori T; Takata, Mutsuko M; Misawa, Katsushi K; Yamaguchi, Masato M; Noji, Yoshihiro Y; Osato, Kazuo K; Mabuchi, Tomohito T; Ichise, Taro T; Kaku, Bunji B; Katsuda, Shoji S; Fujimoto, Manabu M; Uchiyama, Katsuharu K; Fujioka, Kensuke K; Nakahashi, Takuya T; Nozue, Tsuyoshi T; Michishita, Ichiro I; Usuda, Kazuo K; Otowa, Kanichi K; Okeie, Kazuyasu K; Hirota, Satoshi S; Aburadani, Isao I; Kurokawa, Keisuke K; Takatori, Osamu O; Hondo, Shunichiro S; Oda, Hiroyuki H; Takata, Shigeo S; Murai, Hisayoshi H; Kinoshita, Masaki M; Nagai, Hideo H; Sekiguchi, Yoshiteru Y; Sakagami, Satoru S; Omi, Wataru W; Fujita, Chikara C; Katsuki, Tatsuo T; Ootsuji, Hiroshi H; Igarashi, Atsushi A; Nakano, Manabu M; Okura, Seiichiro S; Maeno, Koji K; Mitamura, Yasuhito Y; Sugimoto, Naoki N; Yamamoto, Masakazu M; Akao, Hironobu H; Kajinami, Kouji K; Takamura, Masayuki M; Kawashiri, Masa-Aki MA
Publication Date: 2020-09-10

Variant appearance in text: PCSK9: Val4Ile
PubMed Link: 32912992
Variant Present in the following documents:
  • Main text
  • bmjopen-2020-038623.draft_revisions.pdf
  • bmjopen-2020-038623.pdf
View BVdb publication page



Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Frontiers In Genetics
Huang, Chin-Chou CC; Charng, Min-Ji MJ
Publication Date: 2020

Variant appearance in text: PCSK9: 10G>A
PubMed Link: 32793292
Variant Present in the following documents:
  • Main text
  • fgene-11-00833.pdf
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: PCSK9: 10G>A; Val4Ile; rs186669805
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Impact of genetic testing on low-density lipoprotein cholesterol in patients with familial hypercholesterolemia (GenTLe-FH): a randomised waiting list controlled open-label study protocol.

Bmj Open
Nomura, Akihiro A; Tada, Hayato H; Okada, Hirofumi H; Nohara, Atsushi A; Ishikawa, Hideki H; Yoshimura, Kenichi K; Kawashiri, Masa-Aki MA
Publication Date: 2018-12-28

Variant appearance in text: PCSK9: Val4Ile
PubMed Link: 30593551
Variant Present in the following documents:
  • Main text
View BVdb publication page



Coronary Artery Plaque Regression by a PCSK9 Antibody and Rosuvastatin in Double-heterozygous Familial Hypercholesterolemia with an LDL Receptor Mutation and a PCSK9 V4I Mutation.

Internal Medicine (Tokyo, Japan)
Shirahama, Ryo R; Ono, Takamichi T; Nagamatsu, Suguru S; Sueta, Daisuke D; Takashio, Seiji S; Chitose, Tadasuke T; Fujisue, Koichiro K; Sakamoto, Kenji K; Yamamoto, Eiichiro E; Izumiya, Yasuhiro Y; Kaikita, Koichi K; Hokimoto, Seiji S; Hori, Mika M; Harada-Shiba, Mariko M; Kajiwara, Ichiro I; Ogawa, Hisao H; Tsujita, Kenichi K
Publication Date: 2018

Variant appearance in text: PCSK9: 10G>A
PubMed Link: 30555118
Variant Present in the following documents:
  • Main text
View BVdb publication page



Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease.

Journal Of Translational Medicine
Cao, Ye-Xuan YX; Wu, Na-Qiong NQ; Sun, Di D; Liu, Hui-Hui HH; Jin, Jing-Lu JL; Li, Sha S; Guo, Yuan-Lin YL; Zhu, Cheng-Gang CG; Gao, Ying Y; Dong, Qiu-Ting QT; Liu, Geng G; Dong, Qian Q; Li, Jian-Jun JJ
Publication Date: 2018-12-10

Variant appearance in text: PCSK9: 10G>A; Val4Ile
PubMed Link: 30526649
Variant Present in the following documents:
  • 12967_2018_1737_MOESM1_ESM.pdf
View BVdb publication page



Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.

Plos One
Lee, Chan Joo CJ; Lee, Yunbeom Y; Park, Sungha S; Kang, Seok-Min SM; Jang, Yangsoo Y; Lee, Ji Hyun JH; Lee, Sang-Hak SH
Publication Date: 2017

Variant appearance in text: rs186669805
PubMed Link: 29036232
Variant Present in the following documents:
  • Main text
  • pone.0186446.pdf
View BVdb publication page



Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14

Variant appearance in text: PCSK9: V4I
PubMed Link: 28706299
Variant Present in the following documents:
  • emm2017142x4.xls, sheet 1
  • emm2017142x5.xls, sheet 1
View BVdb publication page



Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One
Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ
Publication Date: 2015

Variant appearance in text: PCSK9: 10G>A; Val4Ile; rs186669805
PubMed Link: 26332594
Variant Present in the following documents:
  • pone.0135193.s002.xls, sheet 1
View BVdb publication page