Association of the HLA-DRB1 with scleroderma in Chinese population.
Association of the HLA-DRB1 with scleroderma in Chinese population.
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中国人群HLA-DRB1与硬皮病的关联
DOI：
10.1371/journal.pone.0106939
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发表时间：
2014
期刊：
影响因子：
3.7
通讯作者：
Zhou X
中科院分区：
文献类型：
--
作者：
He D;Wang J;Yi L;Guo X;Guo S;Guo G;Tu W;Wu W;Yang L;Xiao R;Li Y;Chu H;Lai S;Jin L;Zou H;Reveille JD;Assassi S;Mayes MD;Zhou X
人类白细胞抗原（HLA）DRB 1的多个等位基因与系统性硬化症（SSc）及其临床或血清学亚型密切相关。然而，这种关联在不同的族裔群体中各不相同。为了确定中国人群中SSc风险和/或保护性HLA-DRB 1等位基因，我们研究了一个中国汉族队列，包括585例SSc患者和458例性别匹配的无关对照。采用基于序列的分型方法进行HLA-DRB 1基因分型。从等位基因频率和疾病状态的2×2表格中获得精确的p值（Fisher检验）。在中国人群中，HLA-DRB 1的主要等位基因亚型为DRB 1 *15∶02和 *16∶02。其中DRB 1 *15∶02与抗着丝粒自身抗体（ACA）阳性相关性最高，DRB 1 *16∶02与抗拓扑异构酶I自身抗体（ATA）阳性相关性最高。而DRB 1 *01∶01和 *04∶06在中国人中对SSc有较强的保护作用，尤其是在ACA阳性和弥漫性皮肤SSc（dcSSc）患者中。此外，DRB 1 *11和 *07∶01也分别作为SSc的风险和保护与SSc显著相关，这与西班牙、美国白人和西班牙裔人群的研究一致。DRB 1 *15与ATA阳性中国SSc相关，与南非黑人和韩国SSc一致。HLA-DRB 1等位基因与中国人SSc的相关性研究为SSc的遗传学研究提供了新的知识，并提示不同种族间的遗传异质性可能对SSc的复杂性状产生显著影响。
Multiple alleles of the Human leukocyte antigen (HLA) DRB1 have been strongly associated with systemic sclerosis (SSc) and its clinical or serological subsets. However, the associations vary in different ethnic populations. To define SSc-risk and/or -protective alleles of HLA-DRB1 in Chinese population, we studied a Han Chinese cohort containing 585 patients with SSc and 458 gender-matched, unrelated controls. The HLA-DRB1 genotyping was performed with sequence-based typing method. Exact p-values were obtained (Fisher’s test) from 2×2 tables of allele frequency and disease status. The major SSc-risk allele subtypes of HLA-DRB1 are the DRB1*15∶02 and *16∶02 in this Chinese cohort. Particularly, DRB1*15∶02 was most significantly associated with anti-centromere autoantibodies (ACA) positive, and DRB1*16∶02 with anti-topoisomerase I autoantibodies (ATA) positive patients. On the other hand, DRB1*01∶01 and *04∶06 were strong SSc-protective alleles in Chinese, especially in patients who were ACA positive and had diffuse cutaneous SSc (dcSSc), respectively. In addition, DRB1*11 and *07∶01 also showed significant association with SSc as a risk for and protection from SSc, respectively, and which is consistent with the studies of Spanish, US Caucasian and Hispanic populations. DRB1*15 was associated with ATA positive Chinese SSc that is consistent with Black South African and Korean SSc. These findings of HLA-DRB1 alleles in association with Chinese SSc provide the growing knowledge of genetics of SSc, and indicate that the genetic heterogeneity among ethnicities may significantly impact the complex trait of SSc.
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影响因子：
3.7
作者：
Furukawa H;Oka S;Shimada K;Sugii S;Ohashi J;Matsui T;Ikenaka T;Nakayama H;Hashimoto A;Takaoka H;Arinuma Y;Okazaki Y;Futami H;Komiya A;Fukui N;Nakamura T;Migita K;Suda A;Nagaoka S;Tsuchiya N;Tohma S
通讯作者：
Tohma S
影响因子：
4.5
作者：
Allanore Y;Saad M;Dieudé P;Avouac J;Distler JH;Amouyel P;Matucci-Cerinic M;Riemekasten G;Airo P;Melchers I;Hachulla E;Cusi D;Wichmann HE;Wipff J;Lambert JC;Hunzelmann N;Tiev K;Caramaschi P;Diot E;Kowal-Bielecka O;Valentini G;Mouthon L;Czirják L;Damjanov N;Salvi E;Conti C;Müller M;Müller-Ladner U;Riccieri V;Ruiz B;Cracowski JL;Letenneur L;Dupuy AM;Meyer O;Kahan A;Munnich A;Boileau C;Martinez M
通讯作者：
Martinez M
DOI：
10.1016/j.berh.2006.03.004
发表时间：
2006-06-01
影响因子：
5.2
作者：
Reveille, John D.
通讯作者：
Reveille, John D.
影响因子：
9.8
作者：
Mayes, Maureen D.;Bossini-Castillo, Lara;Martin, Javier
通讯作者：
Martin, Javier
影响因子：
1.2
作者：
Kuwana, M;Inoko, H;Mimori, T
通讯作者：
Mimori, T