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. Author manuscript; available in PMC: 2015 Jun 23.
Published in final edited form as: Genes Immun. 2008 Aug 21;9(8):721–726. doi: 10.1038/gene.2008.66

Table 1.

Sequence variants in the 5′UTR of NLRP3

Reference SNP ID Varianta Locationb Caucasian controls African-American controls FCAS patients MWS patients NOMID patients
Rs2027432 G/A −3661 Nonec None 2/4d 1/2 2/16
G/A −3242 0/118 2/40 0/4 0/4 1/16
Rs3738448 G/T −2667 12/122 None 0/4 0/4 2/16
Rs35728135 G/-e −2620 0/122 None 0/4 0/4 0/16
C/G −2392 18/120 None 1/4 0/4 4/16
A/G −2353 18/120 None 1/4 0/4 4/16
Rs12079994 G/A −2194 12/120 None 0/4 0/4 2/16
Δ63bpf −2123 to −2060 20/120 None 0/4 0/4 3/16
Rs6426246 A/C −1921 0/200 None 0/22 0/14 0/22
Rs4925648 C/T −1535 19/200 None 3/22 3/14 3/22
T/C −1293 19/200 None 3/22 3/14 3/22
Rs34912656 −/Ag −1136 0/200 None 0/22 0/14 0/22
C/T −1064 0/200 None 1/22 0/14 0/22
Rs12137901 T/C −894 38/200 None 7/22 5/14h 7/22

Abbreviations: FCAS, familial cold autoinflaminatory syndrome; MWS, Muckle–Wells syndrome; NOMID, neonatal onset multisystem inflammatory disease; SNP, single-nucleotide polymorphism; 5′UTR, 5′ untranslated region.

Human genomic DNA from FCAS, MWS, and NOMID patients and from Caucasian and African-American controls were used for PCR and sequencing. Primers were designed using Primer3 (http://www-genome.wi.mit.edu/cgi-bin/primer/primer3_www.cgi). Variant frequency is represented as the variant allele over the total number of chromosomes sequenced. The PCR conditions and primers used to amplify and sequence the human genomic DNA are shown in Supplementary Table 2.

a

Variants are listed as the more common allele over the rarer allele.

b

Location of the variants represents the distance from the translational start site of NLRP3.

c

Evaluated in a population of atopic dermatitis patients and controls.22

d

One of the two FCAS patients sequenced was homozygous for the SNP listed, representing both of the rarer alleles.

e

This variant represents a single base pair deletion.

f

This variant represents a 63 base pair deletion.

g

This variant represents a single base pair insertion.

h

Two of the MWS patients sequenced were homozygous for the SNP listed, representing four out of the five rarer alleles.