Funding sources This work was supported by grants to R.B.: ‘BMS/Adhoc/122/11-2012’ ICMR, New Delhi, India; ‘BT/PR9024/MED/12/332/2007’ DBT, New Delhi, India and ‘GSBTM/MD/PROJECTS/SSA/453/2010-2011’ GSBTM, Gandhinagar, Gujarat, India.
Association of NLRP1 genetic variants and mRNA overexpression with generalized vitiligo and disease activity in a Gujarat population
Version of Record online: 31 OCT 2013
© 2013 British Association of Dermatologists
British Journal of Dermatology
Volume 169, Issue 5, pages 1114–1125, November 2013
How to Cite
Dwivedi, M., Laddha, N.C., Mansuri, M.S., Marfatia, Y.S. and Begum, R. (2013), Association of NLRP1 genetic variants and mRNA overexpression with generalized vitiligo and disease activity in a Gujarat population. British Journal of Dermatology, 169: 1114–1125. doi: 10.1111/bjd.12467
Conflicts of interest None declared
- Issue online: 31 OCT 2013
- Version of Record online: 31 OCT 2013
- Accepted manuscript online: 18 JUN 2013 01:06AM EST
- Manuscript Accepted: 2 JUN 2013
- ICMR. Grant Number: BMS/Adhoc/122/11-2012
- DBT. Grant Number: BT/PR9024/MED/12/332/2007
- GSBTM. Grant Number: GSBTM/MD/PROJECTS/SSA/453/2010-2011
|bjd12467-sup-0001-FigS1.tif||image/tif||2064K||Fig S1. Polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) analysis of NLRP1 (previously NALP1) A/G (rs2670660) and C/T (rs6502867) polymorphisms. (a) PCR-RFLP analysis of NLRP1 A/G (rs2670660) promoter polymorphism on 2·5% agarose gel electrophoresis: lanes 4 and 12, homozygous (AA) genotypes; lanes 6–9, heterozygous (AG) genotypes; lanes 1–3, 5, 10 and 11, homozygous (GG) genotypes; lane M, 100-bp DNA ladder. (b) PCR-RFLP analysis of NLRP1 C/T (rs6502867) intron polymorphism on 2·5% agarose gel electrophoresis: lanes 1, 2, 4–6 and 8, homozygous (CC) genotypes; lanes 3 and 7, heterozygous (CT) genotypes; lane M, 50-bp DNA ladder.|
|bjd12467-sup-0002-FigS2.tif||image/tif||3453K||Fig S2. Melt curve analysis of NLRP1 (previously NALP1) and GAPDH showing specific amplification.|
|bjd12467-sup-0003-FigS3.tif||image/tif||3179K||Fig S3. TaqMan endpoint fluorescence analysis for NLRP1 (previously NALP1) A/T (rs12150220) using dual-colour hydrolysis probes (FAM and VIC) by LightCycler®480 Real-Time PCR protocol. The three genotypes identified as AA, AT and TT based on fluorescence with channel 465–510 (FAM for ‘T’ allele) and channel 536–580 (VIC for ‘A’ allele). A no-template control (NTC) was used with the SNP genotyping assay.|
|bjd12467-sup-0004-FigS4.tif||image/tif||3083K||Fig S4. Fold expression of NLRP1 (previously NALP1) mRNA in patients with generalized vitiligo (GV). (a) Fold expression of NLRP1 mRNA in 31 patients with stable and 91 patients with active vitiligo. Patients with active vitiligo showed 5·3-fold higher expression compared with patients with stable vitiligo, as determined by the 2∆∆Cp method. (b) Fold expression of NLRP1 mRNA in 52 male and 70 female patients with vitiligo. Female patients showed a 6·0-fold higher expression compared with male patients, as determined by the 2∆∆Cp method.|
Table S1. Demographic characteristics of generalized vitiligo (GV) patients and unaffected controls.
Table S2. Primers and restriction enzymes used for NLRP1 gene A/G promoter (rs2670660) and T/C (rs6502867) intron SNPs genotyping and gene expression analyses.
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