What is the role of genetics in the etiology of lupus nephritis?

Updated: Mar 04, 2019
  • Author: Lawrence H Brent, MD; Chief Editor: Vecihi Batuman, MD, FASN  more...
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Answer

As with many autoimmune disorders, evidence suggests that genetic predisposition plays an important role in the development of both SLE and lupus nephritis. Multiple genes, many of which are not yet identified, mediate this genetic predisposition (see Table 1 below). [8, 9, 10, 11, 4, 12]

Table 1. Genes Associated With Systemic Lupus Erythematosus (Open Table in a new window)

Gene Locus

Gene Name

Gene Product

1p13.2

PTPN22

Lymphoid-specific protein tyrosine phosphatase

1q21-q23

CRP

CRP

1q23

FCGR2A, FCGR2B

FcγRIIA (R131), FcγRIIB

1q23

FCGR3A, FCGR3B

FcγRIIIA (V176), FcγRIIIB

1q31-q32

IL10

IL-10

1q36.12

C1QB

C1q deficiency

2q32.2-q32.3

STAT4

Signal transducer and activator of transcription 4

2q33

CTLA4

Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4)

6p21.3

HLA-DRB1

HLA-DRB1: DR2/*1501, DR3/*0301C1q deficiency

6p21.3

C2, C4A, C4B

C2, C4 deficiencies

6p21.3

TNF

TNF-a (promoter, -308)

10q11.2-q21

MBL2

Mannose-binding lectin

CRP = C-reactive protein; HLA = human leukocyte antigen; IL = interleukin; TNF = tumor necrosis factor.

SLE is more common in first-degree relatives of patients with SLE (familial prevalence, 10-12%). Concordance rates are higher in monozygotic twins (24-58%) than in dizygotic twins (2-5%), supporting an important role for genetics in the development of SLE. However, the concordance rate in monozygotic twins is not 100%, suggesting that environmental factors trigger development of clinical disease.


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