Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus

Horiuchi Miyagawa, M. Yamai, D. Sakaguchi, Chikako Kiyohara, H. Tsukamoto, yasutaka kimoto, T. Nakamura, J. H. Lee, C. Y. Tsai, B. L. Chiang, T. Shimoda, M. Harada, T. Tahira, K. Hayashi, Takahiko Horiuchi

研究成果: ジャーナルへの寄稿記事

47 引用 (Scopus)

抄録

Objective. Identification of the genes responsible for systemic lupus erythematosus (SLE). Methods. All the exons and putative promoter regions of 53 candidate genes (TNFRSF6/Fas, TNFSF6/FasL, Fli1, TNFSF10/TRAIL, TNFSF12/TWEAK, Bcl-2, PTEN, FADD, TRADD, CDKN1A, TNFRSF1A/TNFR1, TNFRSF4/OX40, TNFSF4/OX40L, TNFSF5/CD40L, TNFSF13B/BAFF, ICOS, CTLA4, CD28, FYN, G2A, CR2, PTPRC/CD45, CD22, CD19, Lyn, PDCD1, PTPN6, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR3, CD3Z, DNASE1, APCS, MERTK, C3, C1QA, C1QB, C1QG, C2, MBL2, IGHM, IL-2, IL-4, IL-10, IFNG, TNFA, MAN2A1, TNFRSF11A/RANK, TNFRSF11B/OPG, TNFSF11/OPGL) were screened for single nucleotide polymorphisms (SNPs) and their association with SLE was assessed by case-control studies. A total of 509 cases and 964 controls of Japanese descent were enrolled. Results. A total of 316 SNPs was identified. When analysed in the Japanese population, the allele frequencies of T at rs7951 and G at rs2230201 of the C3 gene were 0.110 and 0.626, respectively, in SLE patients; significantly higher than the frequencies of 0.081 and 0.584, respectively, in controls [odds ratio (OR) = 1.40, 95% confidence interval (CI) = 1.05-1.86, P = 0.016 and OR = 1.19, 95% CI = 1.01-1.41, P = 0.038, respectively]. The mean serum C3 level of carriers of the rs7951 T allele was significantly lower than that of non-carriers of the T allele in 87 SLE patients whose medical records were available (P = 0.0018). Conclusion. rs7951 T allele of the C3 gene was significantly associated with SLE, and decreased serum level of C3 seems to be correlated with this allele.

元の言語英語
ページ(範囲)158-164
ページ数7
ジャーナルRheumatology
47
発行部数2
DOI
出版物ステータス出版済み - 2 4 2008

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Gene Components
Complement C3
Systemic Lupus Erythematosus
Alleles
Genes
Single Nucleotide Polymorphism
Transforming Growth Factor beta3
Odds Ratio
Confidence Intervals
Receptors, Tumor Necrosis Factor, Type I
CD40 Ligand
Serum
Genetic Promoter Regions
Gene Frequency
Interleukin-4
Interleukin-10
Interleukin-2
Medical Records
Case-Control Studies
Exons

All Science Journal Classification (ASJC) codes

  • Rheumatology
  • Pharmacology (medical)

これを引用

Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus. / Miyagawa, Horiuchi; Yamai, M.; Sakaguchi, D.; Kiyohara, Chikako; Tsukamoto, H.; kimoto, yasutaka; Nakamura, T.; Lee, J. H.; Tsai, C. Y.; Chiang, B. L.; Shimoda, T.; Harada, M.; Tahira, T.; Hayashi, K.; Horiuchi, Takahiko.

:: Rheumatology, 巻 47, 番号 2, 04.02.2008, p. 158-164.

研究成果: ジャーナルへの寄稿記事

Miyagawa, H, Yamai, M, Sakaguchi, D, Kiyohara, C, Tsukamoto, H, kimoto, Y, Nakamura, T, Lee, JH, Tsai, CY, Chiang, BL, Shimoda, T, Harada, M, Tahira, T, Hayashi, K & Horiuchi, T 2008, 'Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus', Rheumatology, 巻. 47, 番号 2, pp. 158-164. https://doi.org/10.1093/rheumatology/kem321
Miyagawa, Horiuchi ; Yamai, M. ; Sakaguchi, D. ; Kiyohara, Chikako ; Tsukamoto, H. ; kimoto, yasutaka ; Nakamura, T. ; Lee, J. H. ; Tsai, C. Y. ; Chiang, B. L. ; Shimoda, T. ; Harada, M. ; Tahira, T. ; Hayashi, K. ; Horiuchi, Takahiko. / Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus. :: Rheumatology. 2008 ; 巻 47, 番号 2. pp. 158-164.
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title = "Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus",
abstract = "Objective. Identification of the genes responsible for systemic lupus erythematosus (SLE). Methods. All the exons and putative promoter regions of 53 candidate genes (TNFRSF6/Fas, TNFSF6/FasL, Fli1, TNFSF10/TRAIL, TNFSF12/TWEAK, Bcl-2, PTEN, FADD, TRADD, CDKN1A, TNFRSF1A/TNFR1, TNFRSF4/OX40, TNFSF4/OX40L, TNFSF5/CD40L, TNFSF13B/BAFF, ICOS, CTLA4, CD28, FYN, G2A, CR2, PTPRC/CD45, CD22, CD19, Lyn, PDCD1, PTPN6, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR3, CD3Z, DNASE1, APCS, MERTK, C3, C1QA, C1QB, C1QG, C2, MBL2, IGHM, IL-2, IL-4, IL-10, IFNG, TNFA, MAN2A1, TNFRSF11A/RANK, TNFRSF11B/OPG, TNFSF11/OPGL) were screened for single nucleotide polymorphisms (SNPs) and their association with SLE was assessed by case-control studies. A total of 509 cases and 964 controls of Japanese descent were enrolled. Results. A total of 316 SNPs was identified. When analysed in the Japanese population, the allele frequencies of T at rs7951 and G at rs2230201 of the C3 gene were 0.110 and 0.626, respectively, in SLE patients; significantly higher than the frequencies of 0.081 and 0.584, respectively, in controls [odds ratio (OR) = 1.40, 95{\%} confidence interval (CI) = 1.05-1.86, P = 0.016 and OR = 1.19, 95{\%} CI = 1.01-1.41, P = 0.038, respectively]. The mean serum C3 level of carriers of the rs7951 T allele was significantly lower than that of non-carriers of the T allele in 87 SLE patients whose medical records were available (P = 0.0018). Conclusion. rs7951 T allele of the C3 gene was significantly associated with SLE, and decreased serum level of C3 seems to be correlated with this allele.",
author = "Horiuchi Miyagawa and M. Yamai and D. Sakaguchi and Chikako Kiyohara and H. Tsukamoto and yasutaka kimoto and T. Nakamura and Lee, {J. H.} and Tsai, {C. Y.} and Chiang, {B. L.} and T. Shimoda and M. Harada and T. Tahira and K. Hayashi and Takahiko Horiuchi",
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doi = "10.1093/rheumatology/kem321",
language = "English",
volume = "47",
pages = "158--164",
journal = "Rheumatology",
issn = "1462-0324",
publisher = "Oxford University Press",
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}

TY - JOUR

T1 - Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus

AU - Miyagawa, Horiuchi

AU - Yamai, M.

AU - Sakaguchi, D.

AU - Kiyohara, Chikako

AU - Tsukamoto, H.

AU - kimoto, yasutaka

AU - Nakamura, T.

AU - Lee, J. H.

AU - Tsai, C. Y.

AU - Chiang, B. L.

AU - Shimoda, T.

AU - Harada, M.

AU - Tahira, T.

AU - Hayashi, K.

AU - Horiuchi, Takahiko

PY - 2008/2/4

Y1 - 2008/2/4

N2 - Objective. Identification of the genes responsible for systemic lupus erythematosus (SLE). Methods. All the exons and putative promoter regions of 53 candidate genes (TNFRSF6/Fas, TNFSF6/FasL, Fli1, TNFSF10/TRAIL, TNFSF12/TWEAK, Bcl-2, PTEN, FADD, TRADD, CDKN1A, TNFRSF1A/TNFR1, TNFRSF4/OX40, TNFSF4/OX40L, TNFSF5/CD40L, TNFSF13B/BAFF, ICOS, CTLA4, CD28, FYN, G2A, CR2, PTPRC/CD45, CD22, CD19, Lyn, PDCD1, PTPN6, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR3, CD3Z, DNASE1, APCS, MERTK, C3, C1QA, C1QB, C1QG, C2, MBL2, IGHM, IL-2, IL-4, IL-10, IFNG, TNFA, MAN2A1, TNFRSF11A/RANK, TNFRSF11B/OPG, TNFSF11/OPGL) were screened for single nucleotide polymorphisms (SNPs) and their association with SLE was assessed by case-control studies. A total of 509 cases and 964 controls of Japanese descent were enrolled. Results. A total of 316 SNPs was identified. When analysed in the Japanese population, the allele frequencies of T at rs7951 and G at rs2230201 of the C3 gene were 0.110 and 0.626, respectively, in SLE patients; significantly higher than the frequencies of 0.081 and 0.584, respectively, in controls [odds ratio (OR) = 1.40, 95% confidence interval (CI) = 1.05-1.86, P = 0.016 and OR = 1.19, 95% CI = 1.01-1.41, P = 0.038, respectively]. The mean serum C3 level of carriers of the rs7951 T allele was significantly lower than that of non-carriers of the T allele in 87 SLE patients whose medical records were available (P = 0.0018). Conclusion. rs7951 T allele of the C3 gene was significantly associated with SLE, and decreased serum level of C3 seems to be correlated with this allele.

AB - Objective. Identification of the genes responsible for systemic lupus erythematosus (SLE). Methods. All the exons and putative promoter regions of 53 candidate genes (TNFRSF6/Fas, TNFSF6/FasL, Fli1, TNFSF10/TRAIL, TNFSF12/TWEAK, Bcl-2, PTEN, FADD, TRADD, CDKN1A, TNFRSF1A/TNFR1, TNFRSF4/OX40, TNFSF4/OX40L, TNFSF5/CD40L, TNFSF13B/BAFF, ICOS, CTLA4, CD28, FYN, G2A, CR2, PTPRC/CD45, CD22, CD19, Lyn, PDCD1, PTPN6, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR3, CD3Z, DNASE1, APCS, MERTK, C3, C1QA, C1QB, C1QG, C2, MBL2, IGHM, IL-2, IL-4, IL-10, IFNG, TNFA, MAN2A1, TNFRSF11A/RANK, TNFRSF11B/OPG, TNFSF11/OPGL) were screened for single nucleotide polymorphisms (SNPs) and their association with SLE was assessed by case-control studies. A total of 509 cases and 964 controls of Japanese descent were enrolled. Results. A total of 316 SNPs was identified. When analysed in the Japanese population, the allele frequencies of T at rs7951 and G at rs2230201 of the C3 gene were 0.110 and 0.626, respectively, in SLE patients; significantly higher than the frequencies of 0.081 and 0.584, respectively, in controls [odds ratio (OR) = 1.40, 95% confidence interval (CI) = 1.05-1.86, P = 0.016 and OR = 1.19, 95% CI = 1.01-1.41, P = 0.038, respectively]. The mean serum C3 level of carriers of the rs7951 T allele was significantly lower than that of non-carriers of the T allele in 87 SLE patients whose medical records were available (P = 0.0018). Conclusion. rs7951 T allele of the C3 gene was significantly associated with SLE, and decreased serum level of C3 seems to be correlated with this allele.

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U2 - 10.1093/rheumatology/kem321

DO - 10.1093/rheumatology/kem321

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VL - 47

SP - 158

EP - 164

JO - Rheumatology

JF - Rheumatology

SN - 1462-0324

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