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Introduction: The inducible degrader of low-density lipoprotein (IDOL) receptor, an E3 ubiquitin ligase, was recently identified as a regulator of the LDL receptor (LDLR) pathway. Shortly, IDOL stimulates LDLR degradation through ubiquitination. However, the association of IDOL gene variants with plasma lipid levels is controversial. No previous study in the Turkish population has reported the relationship between variants of the IDOL gene and low-density lipoprotein cholesterol (LDL-C) levels. Our study aims to investigate the effects of genetic variants in the human IDOL gene, which may be a therapeutic target in human cholesterol metabolism, on LDL-C levels. Methods: We sequenced all coding, critical intronic, and untranslated regions of the IDOL gene in 125 controls (77 women, 48 men) and 125 patients (64 women, 61 men) with definite or probable familial hypercholesterolemia (FH) according to the criteria of the Dutch Lipid Clinic Network, in whom no pathogenic/likely pathogenic LDLR variants are present. Results: We identified 12 different IDOL gene variants, including the p.(N342S) and p.(G51S), whose association with LDL-C levels has been investigated, and classified them into common and rare variants. A rare variant p.(G51S) was only detected in patients the patient group. We compared the minor allele frequency (MAF) distribution of common variants between patient and control groups and examined the association of their genotypic distribution with plasma LDL-C levels using genetic models (dominant, recessive, overdominant, codominant). There was no statistically significant difference in the parameters of the patient and control groups (p > 0.05). Conclusion: Our findings suggest that the common IDOL variants we identified do not associate with the LDL-C level in the Turkish population. Rare variants that were not found to be statistically significant in our study, should be emphasized, and supported with further research.
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Belge Türü
Kaynak: MOLECULAR SYNDROMOLOGY
· s. 128-137
Anahtar Kelimeler (WoS)
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Scimago Dergi Bilgisi
Otomatik ISSN Eşleştirmesi
2025 yılı verileri
Molecular Syndromology
Q3
SJR Quartile
0,420
SJR Skoru
47
H-Index
Kategoriler: Genetics (clinical) (Q3) · Genetics (Q4)
Alanlar: Biochemistry, Genetics and Molecular Biology · Medicine
Ülke: Switzerland
· S. Karger AG
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Dergi sıralama verileri Scimago'nun ilgili yılı baz alınmaktadır.
Anahtar Kelimeler
Inducible degrader of low-density lipoprotein
Low-density lipoprotein cholesterol
Low-density lipoprotein receptor
Cholesterol metabolism
Familial hypercholesterelemia
WoS |
Bir kelimeye tıklayıp ilgili kaynaktaki yayınları görün.
Makale Bilgileri
Dergi
Mol Syndromol.
ISSN
1661-8777
Yıl
2025
/ 4. ay
Cilt / Sayı
16
/ 2
Sayfalar
128 – 137
Makale Türü
Özgün Makale
Hakemlik
Hakemli
Endeks
SCI-Expanded
Teşvik Puanı
0,75
· YÖKSİS Akademik Teşvik
Yayın Dili
İngilizce
Kapsam
Uluslararası
Toplam Yazar
6 kişi
Erişim Türü
Basılı
Sponsor
Scientific Research Project Coordination Unit of Selçuk University
Alan
Sağlık Bilimleri Temel Alanı
Tıbbi Genetik
YÖKSİS Yazar Kaydı
Yazar Adı
DUYMUŞ FAHRETTİN,KOÇAK NADİR,MARZİOĞLU ÖZDEMİR EBRU,ESİN DENİZ,KÖREZ MUSLU KAZIM,ÇORA TÜLÜN
YÖKSİS ID
9303045