A POSSIBLE ASSOCIATION OF ABCB1 (MDR1) GENE rs1045642 VARIANT (SNP) WITH THE DEVELOPMENT OF RENAL GLOMERULAR DISEASES

Abstract

Objective: Renal glomerular disease is an issue that causes proteinuria, edema, and sometimes hematuria and associated with tiny filters in the kidney called glomerulus. In this retrospective study, we aimed to analyze the possible association of renal glomerular diseases with the ABCB1 (MDR1) gene C3435T poly- morphism (rs1045642), with respect to their genetic basis.
Material and Methods: A total of 52 cases with renal glomerular disease were compared with 58 healthy controls for the ABCB1 C3435T polymorphism screened by strip assay and NGS. Allele frequencies and ge- notype distributions of the relevant gene variant were analyzed.
Results: The patient group included focal segmental glomerulosclerosis, membranous glomerulonephritis, IgA nephropathy, diabetic nephropathy, amyloidosis, and similar conditions. The C allele (wild type) and CC genotype of the MDR1 C3435T single nucleotide polymorphism (SNP) were higher in the control group compared to patients, while the T allele (mutant type) and TT genotype were significantly higher in patient group than controls. The patients were older than the healthy controls.
Conclusion: ABCB1 (MDR1) C3435T polymorphism cause a decrease in P-glycoprotein function. In this context, our data suggests that the C3435T variant (SNP) contributes to the development of renal glomerular diseases.

Keywords

• Renal Glomerular Disease
• ABCB1 Gene
• Polymorphism
• P-glycoprotein

Ethical Statement

Ethics committee approval was received from the Health Sciences Research Ethics Committee of Sivas Cumhuriyet University (Date of decision: 24.04.2025 and approval number: 2025-04/22). The study was carried out in accordance with the Declaration of Helsinki.

ABCB1 (MDR1) Geni rs1045642 Varyantının (SNP) Renal Glomeruler Hastalık Gelişimiyle Olası Bir İlişkisi

Abstract

Amaç: Renal glomerüler hastalık, proteinüri, ödem ve bazen hematüriye neden olan ve böbrekte glomeru- lus adı verilen küçük filtrelerle ilişkili bir sorundur. Biz bu retrospektif çalışmada, renal glomerüler hastalık- ların ABCB1 (MDR1) geni C3435T polimorfizmi (rs1045642) ile olası ilişkisini, genetik temelleri bağlamında analiz etmeyi amaçladık.
Gereç ve Yöntemler: Renal glomerüler hastalığı olan toplam 52 vaka, strip assay ve NGS ile taranan ABCB1 C3435T polimorfizmi açısından 58 sağlıklı kontrol ile karşılaştırıldı. İlgili gen varyantının alel frekansları ve genotip dağılımları analiz edildi.
Bulgular: Hasta grubunda fokal segmental glomeruloskleroz, membranöz glomerulonefrit, IgA nefropatisi, diyabetik nefropati, amiloidoz ve benzeri rahatsızlıklar yer alıyordu. MDR1 C3435T tek nükleotid polimor- fizminin (SNP) C aleli (doğal tip) ve CC genotipi kontrol grubunda hastalara göre daha yüksek bulunurken, T aleli (mutant tip) ve TT genotipi hasta grubunda kontrollere kıyasla anlamlı olarak daha yüksek çıktı. Hastalar sağlıklı kontrollerden daha yaşlıydı.
Sonuç: ABCB1 (MDR1) C3435T polimorfizmi P-glikoprotein fonksiyonunda azalmaya neden olmaktadır. Bu bağlamda, verilerimiz C3435T varyantının (SNP) renal glomerüler hastalıkların gelişimine katkıda bulunduğunu düşündürmektedir.

Keywords

• Renal Glomeruler Hastalık
• ABCB1 Geni
• Polimorfizm
• P-glikoprotein

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