A simple method for DNA purification from peripheral blood

Ciulla, Thomas A.; Sklar, R.

doi:10.1016/0003-2697(88)90047-4

Cited by 226 publications

(121 citation statements)

References 4 publications

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“…18 Genotyping of rs2043211 and rs35829419 was performed using the pre-designed Taqman SNP genotyping assays C_25648615_10 and C_11708080_1 as per the manufacturer's instructions (Applied Biosystems, Foster City, CA, USA). The accuracy of the TaqMan was confirmed by repeat analysis of 10% of samples.…”

Section: Resultsmentioning

confidence: 99%

Evidence of interaction of CARD8 rs2043211 with NALP3 rs35829419 in Crohn's disease

et al. 2010

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The location of CARD8 within an inflammatory bowel disease (IBD) locus and its role in the NALP3 inflammasome and as a nuclear factor (NF)kB inhibitor make it an attractive candidate risk gene for IBD. However, studies testing for the association of the CARD8 loss-of-function single-nucleotide polymorphism (SNP) rs2043211 with IBD have yielded mixed results. A recent study provided evidence that this discordance may result from an interaction of rs2043211 with loss-offunction variants in nucleotide-binding oligomerization domain protein 2 (NOD2) and a gain-of-function SNP (rs35829419) in NALP3. To confirm this interaction, we conducted a replication in an independent IBD sample set (n ¼ 1009 patients, n ¼ 517 controls). We found that the presence of the minor allele of rs2043211 with the major allele of rs35829419 conferred a protective effect against Crohn's disease (and vice versa), which intensified in the absence of NOD2 mutations (P 1,2/1,1 ¼ 0.009, odds ratio (OR) ¼ 0.66, 95% confidence interval (CI) (0.48-0.90); P 1,1/1,2 ¼ 0.015, OR ¼ 0.35, 95% CI (0.15-0.82)). We propose that these genotype combinations protect against gut inflammation by preventing the NALP3 inflammasome from producing excessive interleukin-1b.

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Section: Resultsmentioning

confidence: 99%

Evidence of interaction of CARD8 rs2043211 with NALP3 rs35829419 in Crohn's disease

et al. 2010

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“…In our previous report, [9][10][11][12][13][14][15][16] a correlation between this parameter of macrophage activation, the level of serum ferritin and platelet count in children with acute malaria was found. This result suggested that Chit could have a role in the immune response and in the outcome of malaria infection.…”

Section: Discussionmentioning

confidence: 97%

“…14 In total, 30 ng of DNA was used as a template in subsequent PCR reactions. The duplication mutation analysis was performed using specific primers (Chs9 (AGCTATCTGAAGCAGAAG) and Chas8 (GGAGAAGCCGGCAAAGTC)) and fragments of 75 and 99 bp were amplified from the normal and mutant Chit genes, respectively.…”

Section: Dna Analysismentioning

confidence: 99%

A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions

Malaguarnera

Simporé²,

Prodi³

et al. 2003

Genes Immun

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“…a DNA was extracted from peripheral blood samples of the New Zealand and Belgian IBD patients and controls using sodium chloride 24 and guanidium isothiocyanate-chloroform. 25 Genotyping of rs2228224 and rs2228226 in the New Zealand and Belgian case-control data sets was performed using the pre-designed Taqman SNP genotyping assays C_3125146_10 and C_11293074_10 (Applied Biosystems, Foster City, CA, USA), and PCR-RFLP, respectively. The accuracy of the TaqMan and PCR-RFLP assays was confirmed by repeat analysis of 10% of samples and direct DNA sequencing of another 5% of samples.…”

Section: Resultsmentioning

confidence: 99%

Evidence that glioma-associated oncogene homolog 1 is not a universal risk gene for inflammatory bowel disease in Caucasians

et al. 2010

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The transcription factor glioma-associated oncogene homolog 1 (GLI1) has a central function in gastrointestinal tract development and homeostasis. A non-synonymous single-nucleotide polymorphism (SNP) (rs2228226; Q1100E) in GLI1, which impairs GLI1 function in vitro, has been proposed as a risk factor for inflammatory bowel disease (IBD). In this study, we assessed the cumulative evidence for association of GLI1 with IBD. New genotype data for rs2228226 from New Zealand (907 controls, 990 IBD patients) and Belgian Caucasian case-control data sets (312 controls, 1214 IBD patients) were combined with data from the National Institute of Diabetes and Digestive and Kidney Diseases and three previously studied Caucasian case-control data sets. Meta-analysis of rs2228226 did not detect any association with ulcerative colitis (UC) (P ¼ 0.09, odds ratio (OR) ¼ 1.07, 95% confidence interval (CI) ¼ 0.92-1.24), Crohn's disease (CD) (P ¼ 0.29, OR ¼ 1.06, 95% CI ¼ 0.93-1.21) or overall IBD (P ¼ 0.15, OR ¼ 1.05, 95% CI ¼ 0.92-1.19). Our analyses of rs2228226 suggest that GLI1 is not a significant risk factor for IBD in Caucasians.

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A simple method for DNA purification from peripheral blood

Cited by 226 publications

References 4 publications

Evidence of interaction of CARD8 rs2043211 with NALP3 rs35829419 in Crohn's disease

Evidence of interaction of CARD8 rs2043211 with NALP3 rs35829419 in Crohn's disease

A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions

Evidence that glioma-associated oncogene homolog 1 is not a universal risk gene for inflammatory bowel disease in Caucasians

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