Format

Send to

Choose Destination
Inflamm Res. 2019 Aug;68(8):705-713. doi: 10.1007/s00011-019-01253-9. Epub 2019 May 27.

BLK and BANK1 polymorphisms and interactions are associated in Mexican patients with systemic lupus erythematosus.

Author information

1
Unidad de Investigación en Enfermedades, Metabólicas y Endócrinas, Hospital Juárez de México, Av Instituto Politécnico Nacional 5160, Magdalena de las Salinas, 07760, Mexico City, Mexico. dr.julian.ramirez.hjm@gmail.com.
2
Laboratorio de Genómica del Cáncer, Instituto Nacional de Medicina Genómica, Mexico City, Mexico.
3
Unidad de Investigación en Enfermedades, Metabólicas y Endócrinas, Hospital Juárez de México, Av Instituto Politécnico Nacional 5160, Magdalena de las Salinas, 07760, Mexico City, Mexico.
4
Laboratorio de Biología Molecular, Instituto Nacional de Cardiología, Mexico City, Mexico.
5
Servicio de Reumatología, Hospital Juárez de México, Mexico City, Mexico.
6
Servicio de Reumatología, Centro Médico Nacional "La Raza", Instituto Mexicano del Seguro Social, Mexico City, Mexico.
7
Laboratorio de Inmunología, Instituto Nacional de Cardiología, Mexico City, Mexico.

Abstract

OBJECTIVES:

The BLK and BANK1 genes have been consistently associated with systemic lupus erythematosus (SLE), primarily in European or Asian-derived populations. However, this finding has not been replicated in Latin-American patients.

METHODS:

Our study included 881 women from Mexico: 487 healthy controls and 394 SLE patients. The BLK rs13277113A/G-rs2736340T/C as well as BANK1 rs10516487G/A (R61H)-rs3733197G/A (A383T) single nucleotide polymorphisms (SNPs) were evaluated using a TaqMan® SNP genotyping assay.

RESULTS:

Our data showed that the BLK rs2736340T/C and rs13277113A/G polymorphisms are associated with susceptibility to SLE (C vs T, OR 1.60, p = 2×10-5; G vs A, OR 1.53, p = 9 × 10-5, respectively). We also identified an association between the functional BANK1 R61H polymorphism and SLE (A vs G, OR 1.56, p = 0.002). In addition, we observed a genetic interaction between BLK (rs2736340T/C, rs13277113A/G) and BANK1 (R61H and A383T) associated with susceptibility to SLE.

CONCLUSION:

This is the first study documenting an association between BLK and BANK1 and SLE in a Latin-American population. Our data confirm previous reports: BLK and BANK1 are factors associated with SLE. Thus, both genes are universal loci for this autoimmune disease.

KEYWORDS:

Association; BANK1; BLK; Single nucleotide polymorphisms; Susceptibility; Systemic lupus erythematosus

PMID:
31134304
DOI:
10.1007/s00011-019-01253-9
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Springer
Loading ...
Support Center