MBL2 gene variants coding for mannose-binding lectin deficiency are associated with increased risk of nephritis in Danish patients with systemic lupus erythematosus

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

MBL2 gene variants coding for mannose-binding lectin deficiency are associated with increased risk of nephritis in Danish patients with systemic lupus erythematosus. / Tanha, N; Troelsen, L; From Hermansen, M-L; Kjær, L; Faurschou, M; Garred, P; Jacobsen, Susanne.

In: Lupus, Vol. 23, No. 11, 10.2014, p. 1105-1111.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Tanha, N, Troelsen, L, From Hermansen, M-L, Kjær, L, Faurschou, M, Garred, P & Jacobsen, S 2014, 'MBL2 gene variants coding for mannose-binding lectin deficiency are associated with increased risk of nephritis in Danish patients with systemic lupus erythematosus', Lupus, vol. 23, no. 11, pp. 1105-1111. https://doi.org/10.1177/0961203314536478

APA

Tanha, N., Troelsen, L., From Hermansen, M-L., Kjær, L., Faurschou, M., Garred, P., & Jacobsen, S. (2014). MBL2 gene variants coding for mannose-binding lectin deficiency are associated with increased risk of nephritis in Danish patients with systemic lupus erythematosus. Lupus, 23(11), 1105-1111. https://doi.org/10.1177/0961203314536478

Vancouver

Tanha N, Troelsen L, From Hermansen M-L, Kjær L, Faurschou M, Garred P et al. MBL2 gene variants coding for mannose-binding lectin deficiency are associated with increased risk of nephritis in Danish patients with systemic lupus erythematosus. Lupus. 2014 Oct;23(11):1105-1111. https://doi.org/10.1177/0961203314536478

Author

Tanha, N ; Troelsen, L ; From Hermansen, M-L ; Kjær, L ; Faurschou, M ; Garred, P ; Jacobsen, Susanne. / MBL2 gene variants coding for mannose-binding lectin deficiency are associated with increased risk of nephritis in Danish patients with systemic lupus erythematosus. In: Lupus. 2014 ; Vol. 23, No. 11. pp. 1105-1111.

Bibtex

@article{2a321cd84fa04850b8feef7d3dd1a048,
title = "MBL2 gene variants coding for mannose-binding lectin deficiency are associated with increased risk of nephritis in Danish patients with systemic lupus erythematosus",
abstract = "OBJECTIVES: Autoimmunity may in part result from deficiencies in the processing of apoptotic debris. As mannose-binding lectin (MBL) is involved in such processes, we hypothesized that the variants in the MBL2 gene resulting in MBL deficiency confer an increased risk of nephritis in systemic lupus erythematosus (SLE).METHODS: A total of 171 SLE patients attending a Danish tertiary rheumatology referral center were included. Common variant alleles in exon 1 of the MBL2 gene (R52C, rs5030737; G54D, rs1800450; G57E, rs1800451) were genotyped. The normal allele and variant alleles are termed A and O, respectively. The follow-up period was defined as the time from fulfillment of the ACR 1987 classification criteria for SLE until the occurrence of an event (nephritis, end-stage renal disease (ESRD), or death) or end of follow-up. Cox regression analyses were controlled for gender, age and race.RESULTS: During a median follow-up of 5.7 years, nephritis developed in 94 patients, and ESRD developed in 16 of these patients. Twenty-seven patients died. The distribution of the MBL2 genotypes A/A, A/O and O/O was 58%, 35% and 7.0%, respectively. Compared to the rest, O/O patients had 2.6 times (95% CI: 1.2-5.5) higher risk of developing nephritis, and their risk of death after 10 years was 6.0 times increased (95% CI: 1.0-36). MBL serum levels below 100 ng/ml were associated with a 2.0 (95% CI: 1.2-3.4; p = 0.007) increased risk of developing nephritis. ESRD and histological class of nephritis were not associated with MBL deficiency.CONCLUSIONS: Genetically determined MBL deficiency was associated with development of nephritis in SLE patients, but not with histological class of nephritis or ESRD.",
keywords = "Adolescent, Adult, Aged, Alleles, Child, Denmark, Female, Follow-Up Studies, Genetic Predisposition to Disease, Genetic Variation, Genotype, Humans, Lupus Erythematosus, Systemic, Lupus Nephritis, Male, Mannose-Binding Lectin, Metabolism, Inborn Errors, Middle Aged, Proportional Hazards Models, Regression Analysis, Risk Factors, Young Adult",
author = "N Tanha and L Troelsen and {From Hermansen}, M-L and L Kj{\ae}r and M Faurschou and P Garred and Susanne Jacobsen",
note = "{\textcopyright} The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.",
year = "2014",
month = oct,
doi = "10.1177/0961203314536478",
language = "English",
volume = "23",
pages = "1105--1111",
journal = "Lupus",
issn = "0961-2033",
publisher = "SAGE Publications",
number = "11",

}

RIS

TY - JOUR

T1 - MBL2 gene variants coding for mannose-binding lectin deficiency are associated with increased risk of nephritis in Danish patients with systemic lupus erythematosus

AU - Tanha, N

AU - Troelsen, L

AU - From Hermansen, M-L

AU - Kjær, L

AU - Faurschou, M

AU - Garred, P

AU - Jacobsen, Susanne

N1 - © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

PY - 2014/10

Y1 - 2014/10

N2 - OBJECTIVES: Autoimmunity may in part result from deficiencies in the processing of apoptotic debris. As mannose-binding lectin (MBL) is involved in such processes, we hypothesized that the variants in the MBL2 gene resulting in MBL deficiency confer an increased risk of nephritis in systemic lupus erythematosus (SLE).METHODS: A total of 171 SLE patients attending a Danish tertiary rheumatology referral center were included. Common variant alleles in exon 1 of the MBL2 gene (R52C, rs5030737; G54D, rs1800450; G57E, rs1800451) were genotyped. The normal allele and variant alleles are termed A and O, respectively. The follow-up period was defined as the time from fulfillment of the ACR 1987 classification criteria for SLE until the occurrence of an event (nephritis, end-stage renal disease (ESRD), or death) or end of follow-up. Cox regression analyses were controlled for gender, age and race.RESULTS: During a median follow-up of 5.7 years, nephritis developed in 94 patients, and ESRD developed in 16 of these patients. Twenty-seven patients died. The distribution of the MBL2 genotypes A/A, A/O and O/O was 58%, 35% and 7.0%, respectively. Compared to the rest, O/O patients had 2.6 times (95% CI: 1.2-5.5) higher risk of developing nephritis, and their risk of death after 10 years was 6.0 times increased (95% CI: 1.0-36). MBL serum levels below 100 ng/ml were associated with a 2.0 (95% CI: 1.2-3.4; p = 0.007) increased risk of developing nephritis. ESRD and histological class of nephritis were not associated with MBL deficiency.CONCLUSIONS: Genetically determined MBL deficiency was associated with development of nephritis in SLE patients, but not with histological class of nephritis or ESRD.

AB - OBJECTIVES: Autoimmunity may in part result from deficiencies in the processing of apoptotic debris. As mannose-binding lectin (MBL) is involved in such processes, we hypothesized that the variants in the MBL2 gene resulting in MBL deficiency confer an increased risk of nephritis in systemic lupus erythematosus (SLE).METHODS: A total of 171 SLE patients attending a Danish tertiary rheumatology referral center were included. Common variant alleles in exon 1 of the MBL2 gene (R52C, rs5030737; G54D, rs1800450; G57E, rs1800451) were genotyped. The normal allele and variant alleles are termed A and O, respectively. The follow-up period was defined as the time from fulfillment of the ACR 1987 classification criteria for SLE until the occurrence of an event (nephritis, end-stage renal disease (ESRD), or death) or end of follow-up. Cox regression analyses were controlled for gender, age and race.RESULTS: During a median follow-up of 5.7 years, nephritis developed in 94 patients, and ESRD developed in 16 of these patients. Twenty-seven patients died. The distribution of the MBL2 genotypes A/A, A/O and O/O was 58%, 35% and 7.0%, respectively. Compared to the rest, O/O patients had 2.6 times (95% CI: 1.2-5.5) higher risk of developing nephritis, and their risk of death after 10 years was 6.0 times increased (95% CI: 1.0-36). MBL serum levels below 100 ng/ml were associated with a 2.0 (95% CI: 1.2-3.4; p = 0.007) increased risk of developing nephritis. ESRD and histological class of nephritis were not associated with MBL deficiency.CONCLUSIONS: Genetically determined MBL deficiency was associated with development of nephritis in SLE patients, but not with histological class of nephritis or ESRD.

KW - Adolescent

KW - Adult

KW - Aged

KW - Alleles

KW - Child

KW - Denmark

KW - Female

KW - Follow-Up Studies

KW - Genetic Predisposition to Disease

KW - Genetic Variation

KW - Genotype

KW - Humans

KW - Lupus Erythematosus, Systemic

KW - Lupus Nephritis

KW - Male

KW - Mannose-Binding Lectin

KW - Metabolism, Inborn Errors

KW - Middle Aged

KW - Proportional Hazards Models

KW - Regression Analysis

KW - Risk Factors

KW - Young Adult

U2 - 10.1177/0961203314536478

DO - 10.1177/0961203314536478

M3 - Journal article

C2 - 24850777

VL - 23

SP - 1105

EP - 1111

JO - Lupus

JF - Lupus

SN - 0961-2033

IS - 11

ER -

ID: 138379524