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Interleukin-21 receptor gene polymorphisms in kawasaki disease.

Kim MH, Bae YJ, Lee HK, Lee YR, Lee DH, Bae K, Koh SB, Namgoong MK, Cha BH, Lee HY - Korean Circ J (2013)

Bottom Line: We found five single nucleotide polymorphisms (SNPs) of which minor allele frequency (MAF) >0.01 in the promoter region of IL-21R gene.There was no significant correlation between IL-21R gene polymorphisms and the serum level of IL-21.The serum level of total IgE was not significantly correlated with the presence of IL-21R gene polymorphisms.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Yonsei University Wonju College of Medicine, Wonju, Korea.

ABSTRACT

Background and objectives: Interleukin-21 receptor (IL-21R) gene polymorphism is related with the development of systemic vasculitis. In this study, we investigated the polymorphisms of IL-21R gene in patients with Kawasaki disease (KD).

Subjects and methods: We genotyped the promoter region of IL-21R gene (-2500 bp to +1 bp) in 100 patients with KD and 100 healthy controls. All study subjects were Korean. We designed five pairs of primers and performed polymerase chain reaction (PCR) and direct sequencing. We analyzed whole promoter sequences of 200 individuals with comparison to reference sequences of IL-21R gene (NG_012222.1/NC_000016.9).

Results: We found five single nucleotide polymorphisms (SNPs) of which minor allele frequency (MAF) >0.01 in the promoter region of IL-21R gene. Those are -1681 G>T (chromosome site 27411802), -379 G>A (27413104), -332 G>C (27413151, rs2214537), -237 A>T (27413246), and -53 G>A (27413430). There is no significant difference in MAF of each SNP between patients with KD and healthy controls except -237 A>T. Twenty five patients with KD had more than 1 SNP in contrast to only seven healthy controls had. The patients with KD have significantly more IL-21R gene polymorphisms than controls (odds ratio: 3.0, 95% confidence interval: 1.6-5.6, p=0.0005). There was no significant correlation between IL-21R gene polymorphisms and the serum level of IL-21. The serum level of total IgE was not significantly correlated with the presence of IL-21R gene polymorphisms.

Conclusion: Our data suggest that the genetic susceptibility profile for KD may include IL-21R gene.

No MeSH data available.


Related in: MedlinePlus

The IL-21R gene site in chromosome 16 (27,413,483...27,463,363). IL-21R: interleukin 21 receptor.
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Figure 1: The IL-21R gene site in chromosome 16 (27,413,483...27,463,363). IL-21R: interleukin 21 receptor.

Mentions: Genomic deoxyribonucleic acids were extracted from whole blood samples of patients and controls by using LaboPass™ Blood Kit (Cosmo Genetech, Seoul, Korea) according to the manufacturer's instruction. The nucleotide changes in the promoter region of IL-21R gene (-2500 bp~ +1 bp) according to the position from the transcription starting base of the IL-21R gene (NG_012222.1) (Fig. 1) were identified by PCR using ExTaq polymerase (Takara Bio Inc, Shiga, Japan) with 5 pairs of primers listed in Table 1. PCR conditions were 1 cycle of 3 minutes at 95℃, followed by 35 cycles of 3 steps that were at 95℃ for 30 seconds, at 58℃ for 30 seconds, at 72℃ for 1 minute each, and 1 cycle of 10 minutes at 72℃. The PCR products were separated by gel electrophoresis on 1% agarose gel.


Interleukin-21 receptor gene polymorphisms in kawasaki disease.

Kim MH, Bae YJ, Lee HK, Lee YR, Lee DH, Bae K, Koh SB, Namgoong MK, Cha BH, Lee HY - Korean Circ J (2013)

The IL-21R gene site in chromosome 16 (27,413,483...27,463,363). IL-21R: interleukin 21 receptor.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3569565&req=5

Figure 1: The IL-21R gene site in chromosome 16 (27,413,483...27,463,363). IL-21R: interleukin 21 receptor.
Mentions: Genomic deoxyribonucleic acids were extracted from whole blood samples of patients and controls by using LaboPass™ Blood Kit (Cosmo Genetech, Seoul, Korea) according to the manufacturer's instruction. The nucleotide changes in the promoter region of IL-21R gene (-2500 bp~ +1 bp) according to the position from the transcription starting base of the IL-21R gene (NG_012222.1) (Fig. 1) were identified by PCR using ExTaq polymerase (Takara Bio Inc, Shiga, Japan) with 5 pairs of primers listed in Table 1. PCR conditions were 1 cycle of 3 minutes at 95℃, followed by 35 cycles of 3 steps that were at 95℃ for 30 seconds, at 58℃ for 30 seconds, at 72℃ for 1 minute each, and 1 cycle of 10 minutes at 72℃. The PCR products were separated by gel electrophoresis on 1% agarose gel.

Bottom Line: We found five single nucleotide polymorphisms (SNPs) of which minor allele frequency (MAF) >0.01 in the promoter region of IL-21R gene.There was no significant correlation between IL-21R gene polymorphisms and the serum level of IL-21.The serum level of total IgE was not significantly correlated with the presence of IL-21R gene polymorphisms.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Yonsei University Wonju College of Medicine, Wonju, Korea.

ABSTRACT

Background and objectives: Interleukin-21 receptor (IL-21R) gene polymorphism is related with the development of systemic vasculitis. In this study, we investigated the polymorphisms of IL-21R gene in patients with Kawasaki disease (KD).

Subjects and methods: We genotyped the promoter region of IL-21R gene (-2500 bp to +1 bp) in 100 patients with KD and 100 healthy controls. All study subjects were Korean. We designed five pairs of primers and performed polymerase chain reaction (PCR) and direct sequencing. We analyzed whole promoter sequences of 200 individuals with comparison to reference sequences of IL-21R gene (NG_012222.1/NC_000016.9).

Results: We found five single nucleotide polymorphisms (SNPs) of which minor allele frequency (MAF) >0.01 in the promoter region of IL-21R gene. Those are -1681 G>T (chromosome site 27411802), -379 G>A (27413104), -332 G>C (27413151, rs2214537), -237 A>T (27413246), and -53 G>A (27413430). There is no significant difference in MAF of each SNP between patients with KD and healthy controls except -237 A>T. Twenty five patients with KD had more than 1 SNP in contrast to only seven healthy controls had. The patients with KD have significantly more IL-21R gene polymorphisms than controls (odds ratio: 3.0, 95% confidence interval: 1.6-5.6, p=0.0005). There was no significant correlation between IL-21R gene polymorphisms and the serum level of IL-21. The serum level of total IgE was not significantly correlated with the presence of IL-21R gene polymorphisms.

Conclusion: Our data suggest that the genetic susceptibility profile for KD may include IL-21R gene.

No MeSH data available.


Related in: MedlinePlus