Abstract
Membranous nephropathy (MN) is one of the most common causes of nephrotic syndrome in adults and is classified as either primary (idiopatic) or secondary MN according to underlying etiology (the later result from some known disease such as systemic autoimmune diseases, infections, malignancies, drugs, etc). In recent years, phospholipase A2 receptor 1 (PLA2R) and thrombospondin type-1 domain-containing 7A (THSD7A) were identified as two major podocytic antigens involved in the pathogenesis of idiopatic MN (IMN). And the discovery of circulating antibodies specific for these target antigens has transformed the diagnostic workup and significally improved management of IMN. However why do such antibodies develop is not conclusively established. The role of underlying genetic factors is discussed. The review presents the results of recent studies, that have shown significant associations of specific genetic factors (particularly human leucocyte antigen class II and PLA2R1 genes) with IMN.
Highlights
Membranous nephropathy (MN) is one of the most common causes of nephrotic syndrome in adults and is classified as either primary or secondary MN according to underlying etiology
Phospholipase A2 receptor 1 (PLA2R) and thrombospondin type-1 domain-containing 7A (THSD7A) were identified as two major podocytic antigens involved in the pathogenesis of idiopatic MN (IMN)
The review presents the results of recent studies, that have shown significant associations of specific genetic factors with IMN
Summary
[29] обнаружили статистически значимую ассоциацию ИМН с полиморфными маркерами rs2187668 гена HLA-DQA1 и rs4664308 гена PLA2R1, причем оказалось, что у пациентов, гомозиготных по аллелям риска обоих полиморфных маркеров, вероятность развития ИМН возрастала почти в 80 раз [отношение шансов (ОШ) 78,5; 95% доверительный интервал (ДИ) 34,6–178,2]. Кроме rs3749117, оказались ассоциированы с предрасположенностью к ИМН, причем риск развития заболевания у носителей сочетания генотипов АА обоих полиморфных маркеров (rs2187668 гена HLA-DQA1 и rs4664308 гена PLA2R1) оказался ближе к таковому в европейской популяции (ОШ 58,33; 95% ДИ 7,3–597,3).
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