Variants in BANK1 are associated with lupus nephritis of European ancestry

被引：15

作者：

Bolin, Karin ^{[1
,2
]}

Imgenberg-Kreuz, Juliana ^{[1
,2
]}

Leonard, Dag ^{[1
,2
]}

Sandling, Johanna K. ^{[1
,2
]}

Alexsson, Andrei ^{[1
,2
]}

Pucholt, Pascal ^{[1
,2
]}

Haarhaus, Malena Loberg ^{[3
]}

Almlof, Jonas Carlsson ^{[4
]}

Nititham, Joanne ^{[5
]}

Jonsen, Andreas ^{[6
]}

Sjowall, Christopher ^{[7
]}

Bengtsson, Anders A. ^{[6
]}

Rantapaa-Dahlqvist, Solbritt ^{[8
]}

Svenungsson, Elisabet ^{[3
]}

Gunnarsson, Iva ^{[3
]}

Syvanen, Ann-Christine ^{[4
]}

Lerang, Karoline ^{[9
]}

Troldborg, Anne ^{[10
,11
]}

Voss, Anne ^{[12
]}

Molberg, Oyvind ^{[9
]}

Jacobsen, Soren ^{[13
]}

Criswell, Lindsey ^{[5
]}

Ronnblom, Lars ^{[1
,2
]}

Nordmark, Gunnel ^{[1
,2
]}

机构：

[1] Uppsala Univ, Sci Life Lab, Dept Med Sci, Uppsala, Sweden

[2] Uppsala Univ, Sci Life Lab, Uppsala, Sweden

[3] Karolinska Univ Hosp Stockholm, Karolinska Inst, Dept Med Solna, Stockholm, Sweden

[4] Uppsala Univ, Mol Med, Dept Med Sci, Uppsala, Sweden

[5] Univ Calif San Francisco, Russell Engleman Rheumatol Res Ctr, Dept Med, San Francisco, CA 94132 USA

[6] Lund Univ, Dept Rheumatol, Lund, Sweden

[7] Linkoping Univ, Dept Biomed & Clin Sci, Linkoping, Sweden

[8] Umea Univ, Dept Publ Hlth & Clin Med, Umea, Sweden

[9] Univ Oslo, Dept Rheumatol, Oslo, Norway

[10] Aarhus Univ Hosp, Dept Rheumatol, Aarhus, Denmark

[11] Aarhus Univ, Dept Biomed, Aarhus, Denmark

[12] Odense Univ Hosp, Dept Rheumatol, Odense, Denmark

[13] Copenhagen Univ Hosp, Dept Clin Med, Copenhagen, Denmark

来源：

GENES AND IMMUNITY | 2021年 / 22卷 / 03期

基金：

瑞典研究理事会;

关键词：

FUNCTIONAL VARIANTS; ERYTHEMATOSUS; CLASSIFICATION; GENE; SUSCEPTIBILITY; RISK; IDENTIFICATION; CRITERIA; DISEASE; SLE;

D O I：

10.1038/s41435-021-00142-8

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The genetic background of lupus nephritis (LN) has not been completely elucidated. We performed a case-only study of 2886 SLE patients, including 947 (33%) with LN. Renal biopsies were available from 396 patients. The discovery cohort (Sweden, n = 1091) and replication cohort 1 (US, n = 962) were genotyped on the Immunochip and replication cohort 2 (Denmark/Norway, n = 833) on a custom array. Patients with LN, proliferative nephritis, or LN with end-stage renal disease were compared with SLE without nephritis. Six loci were associated with LN (p < 1 x 10(-4), NFKBIA, CACNA1S, ITGA1, BANK1, OR2Y, and ACER3) in the discovery cohort. Variants in BANK1 showed the strongest association with LN in replication cohort 1 (p = 9.5 x 10(-4)) and proliferative nephritis in a meta-analysis of discovery and replication cohort 1. There was a weak association between BANK1 and LN in replication cohort 2 (p = 0.052), and in the meta-analysis of all three cohorts the association was strengthened (p = 2.2 x 10(-7)). DNA methylation data in 180 LN patients demonstrated methylation quantitative trait loci (meQTL) effects between a CpG site and BANK1 variants. To conclude, we describe genetic variations in BANK1 associated with LN and evidence for genetic regulation of DNA methylation within the BANK1 locus. This indicates a role for BANK1 in LN pathogenesis.

引用

页码：194 / 202

页数：9

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