Genetic variation in C-reactive protein (CRP) gene may be associated with risk of systemic lupus erythematosus and CRP concentrations.
Genetic variation in C-reactive protein (CRP) gene may be associated with risk of systemic lupus erythematosus and CRP concentrations.
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C反应蛋白（CRP）基因的遗传变异可能与全身性红斑狼疮和CRP浓度的风险有关。
DOI：
10.3899/jrheum.080262
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发表时间：
2008-11
影响因子：
3.9
通讯作者：
Kamboh, M. Ilyas
中科院分区：
文献类型：
--
作者：
Shih, P. Betty;Manzi, Susan;Shaw, Penny;Kenney, Margaret;Kao, Amy H.;Bontempo, Franklin;Barmada, M. Michael;Kammerer, Candace;Kamboh, M. Ilyas
编码C-反应蛋白（CRP）的基因位于染色体1q23.2上，该基因福尔斯位于被认为具有系统性红斑狼疮（SLE）易感基因的连锁区域内。最近，CRP基因中的两个SNP（+838，+2043）已被证明与CRP水平和/或SLE风险在英国家庭为基础的队列。目前的研究是在一个独立的基于人群的病例对照队列中证实报道的相关性，并研究三个额外的CRP tagSNP（-861，-390，+90）对SLE风险和血清CRP水平的影响。对337名符合ACR标准的明确（n = 324）或可能（n = 13）SLE的白色女性和448名白色女性健康对照的DNA进行5种CRP tagSNP（-861，-390，+90，+838，+2043）的基因分型。使用PCR-RFLP、焦磷酸测序或TaqMan测定进行基因分型。采用ELISA法测定血清CRP水平。相关性研究采用χ2分布、Z检验、Fisher精确检验和方差分析。采用EH软件和R2.1.2中的haplo.stats软件包进行单倍型分析。虽然没有发现SNP与SLE风险单独相关，但与五种SNP单倍型相关（p<0.000001）。3个SNPs（-861、-390、+90）对SLE患者血清CRP水平有显著影响，无论是独立影响还是单倍型影响。我们的数据表明，CRP基因中独特的单倍型组合可能会改变发生SLE的风险，并影响循环CRP水平。
The gene coding for C-reactive protein (CRP) is located on chromosome 1q23.2, which falls within a linkage region thought to harbor a systemic lupus erythematosus (SLE) susceptibility gene. Recently, two SNPs in the CRP gene (+838, +2043) have been shown to be associated with CRP levels and/or SLE risk in a British family-based cohort. The current study was done to confirm the reported association in an independent population-based case-control cohort, and also to investigate the impact of three additional CRP tagSNPs (-861, -390, +90) on SLE risk and serum CRP levels. DNA from 337 white women who met the ACR criteria for definite (n = 324) or probable (n = 13) SLE and 448 white female healthy controls was genotyped for five CRP tagSNPs (-861, -390, +90, +838, +2043). Genotyping was performed using PCR-RFLP, pyrosequencing or TaqMan assays. Serum CRP levels were measured using ELISA. Association studies were performed using the χ2 distribution, Z-test, Fisher's exact test and ANOVA. Haplotype analysis was performed using EH software and haplo.stats package in R 2.1.2. While none of the SNPs were found to be associated with SLE risk individually, there was an association with the five-SNP haplotypes (p<0.000001). Three SNPs (-861, -390, +90) were found to significantly influence serum CRP level in SLE cases, both independently and as haplotypes. Our data suggests that unique haplotype combinations in the CRP gene may modify the risk of developing SLE and influence circulating CRP levels.
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影响因子：
27.4
作者：
HIND, CRK;NG, SC;PEPYS, MB
通讯作者：
PEPYS, MB
影响因子：
7.5
作者：
Karassa, FB;Trikalinos, TA;Ioannidis, JPA
通讯作者：
Ioannidis, JPA
影响因子：
27.4
作者：
BECKER, GJ;WALDBURGER, M;PEPYS, MB
通讯作者：
PEPYS, MB
影响因子：
2.1
作者：
INOUE, T;KANAYAMA, Y;HORIGUCHI, T
通讯作者：
HORIGUCHI, T
影响因子：
9.8
作者：
Johanneson, B;Lima, G;Alarcón-Riquelme, ME
通讯作者：
Alarcón-Riquelme, ME