Exome-wide association study identifies four novel loci for systemic lupus erythematosus in Han Chinese population

Wen, Leilei; Zhu, Caihong; Zhu, Zhengwei; Yang, Chao; Zheng, Xiaodong; Liu, Lu; Zuo, Xianbo; Sheng, Yujun; Tang, Huayang; Liang, Bo; Zhou, Yi; Pan, Li; Jun, Zhu; Ding, Yu; Chen, Gang; Gao, Jinping; Tang, Lili; Cheng, Yuyan; Sun, Jian; Elango, Tamilselvi; Kafle, Anjana; Yu, Ruixing; Xue, Ke; Zhang, Yaohua; Li, Feng; Li, Zhanguo; Guo, Jianping; Zhang, Xuan; Zhou, Chen; Tang, Yue; Shen, Nan; Wang, Meng; Yu, Xueqing; Liu, Shengxiu; Fan, Xing; Gao, Min; Xiao, Feng‐Li; Wang, Peiguang; Wang, Zaixing; Zhang, Anping; Zhou, Fusheng; Sun, Liangdan; Yang, Sen; Xu, Jinhua; Yin, Xianyong; Cui, Yong; Zhang, Xuejun

doi:10.1136/annrheumdis-2017-211823

Cited by 47 publications

(43 citation statements)

References 47 publications

(27 reference statements)

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“…At present, the association between AHNAK2 and CRC has not been determined; however, AHNAK2 has been revealed to be a prognostic biomarker for clear cell renal cell carcinoma and pancreatic ductal adenocarcinoma (60,61). Additionally, Wen et al (62) reported AHNAK2 as a susceptibility gene for systemic lupus erythematosus; however, mutations of DEFB126, MIR3665, WNK1 and SLAIN1 were not associated with CRC according to previous studies. Therefore, further investigation into the role of high-frequency gene mutations in the cc-006cpm8 cell line for the development of CRC is required.…”

Section: Status Of Coding Sequence ----------------------------------mentioning

confidence: 93%

Establishment and characterization of a novel cell line (cc‑006cpm8) of moderately/poorly differentiated colorectal adenocarcinoma derived from a primary tumor of a patient

et al. 2019

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In the present study, the cc-006cpm8 novel colon cell line was established from a sample of right colorectal adenocarcinoma obtained from a woman with liver metastasis. It was possible to culture this cell line for ≥100 passages in vitro with vigorous growth. Morphologically, the cells grew as several layers with tight adhesion to the surface of the culture plate. The morphological, immunological and ultrastructural features of these cells suggested their epithelial origin. The characterization of this cell line indicated a doubling time of 27 h, a colony forming efficiency of 73.2% in semisolid media and a plate efficiency of 66.5% in liquid culture. The modal number of chromosomes was 50. In vivo, the cc-006cpm8 cells underwent tumorigenesis in all nude mice used. Immunohistochemical analysis demonstrated that mutS homolog 2 (MSH2) and MSH6 were expressed; however, mutL homolog 1 and postmeiotic segregation 2 were downregulated in cc-006cpm8 cells. To determine the mutation profile of the cell line analyzed, exome capture DNA sequencing was performed. The results revealed 20 hypermutated exons comprising single nucleotide polymorphisms, and insertion and deletions (InDels), including single nucleotide variants of mucin (MUC)19, MUC16, MUC12, filaggrin and AHNAK nucleoprotein 2, and InDels of β defensin-126, microRNA-3665, WNK lysine deficient protein kinase 1 and SLAIN motif-containing protein 1. In addition, commonly mutated genes in colorectal cancer and exon mutations of genes in cc-006cpm8 cells were analyzed, including adenomatous polyposis coli, tumor protein p53, Drosophila mothers against decapentaplegic 4, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit α and Kirsten rat sarcoma, and genes associated with the DNA mismatch repair pathway were investigated.

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Section: Status Of Coding Sequence ----------------------------------mentioning

confidence: 93%

Establishment and characterization of a novel cell line (cc‑006cpm8) of moderately/poorly differentiated colorectal adenocarcinoma derived from a primary tumor of a patient

et al. 2019

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“…The 5th Annual Meeting of the Chinese Society for Investigative Dermatology will take place in Xi'an on September 11e13, 2020. Cai et al, 2011;Jin and Wang, 2014;Qiao et al, 2019;Sun et al, 2010;Wu et al, 2018;Yang et al, 2017;Zhang et al, 2013cZhang et al, , 2009bZhou et al, 2016;Zuo et al, 2015 Systemic lupus erythematosus Han et al, 2009;Liu et al, 2019;Morris et al, 2016;Wen et al, 2018;Zhao et al, 2018Zhao et al, , 2016 Vitiligo Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. Impaired activation of the Nrf2-ARE signaling pathway undermines H 2 O 2 -induced oxidative stress.…”

Section: Call For International Collaborationsmentioning

confidence: 99%

Meeting Report of the 4th Annual Meeting of the Chinese Society for Investigative Dermatology: Reflections on the Rise of Cutaneous Biology Research in China

Uitto

Wang

2020

Journal of Investigative Dermatology

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“…The study identified 10 genome‐wide significant sites and six additional loci with suggestive associations to SLE (Sun et al, ). More recently, a large‐scale exome‐wide study conducted in Anhui, China in a Han Chinese population identified four additional novel SLE gene regions ( LCT , TPCN2 , AHNAK2 and TNFRSF13B ) (Wen et al, ).…”

Section: Genome‐wide Association Studies On Sle In Asiamentioning

confidence: 99%

Genetic studies on systemic lupus erythematosus in East Asia point to population differences in disease susceptibility

Wang

Lau

Yang

2019

American J of Med Genetics Pt C

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Systemic lupus erythematosus (SLE) is a prototype autoimmune disease with extreme clinical heterogeneity and significant differences between populations. East Asian populations are known to have higher prevalence and more severe clinical manifestations for SLE than Europeans. The difference could be the result of genetic and environmental factors, and the interactions between them. Thus, identifying genetic associations from diverse populations provides an opportunity to better understand the genetic architecture of this heterogeneous disease. It is also necessary to elucidate population differences and to apply the findings in future stratified treatment of the disease, with ethnicity likely a major factor to consider. Indeed, it has shown that there are significant differences between East Asians and European populations in several genetic loci for SLE. Genetic studies on SLE are very active in East Asian countries and there have been close collaborations among scientists in this region. Here, we document some work done in this region on SLE genetic research and discuss the aspect of population differences.

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Exome-wide association study identifies four novel loci for systemic lupus erythematosus in Han Chinese population

Abstract: This study identified three novel coding variants and four new susceptibility gene regions for SLE. The results provide insights into the biological mechanism of SLE.

Cited by 47 publications

References 47 publications

Establishment and characterization of a novel cell line (cc‑006cpm8) of moderately/poorly differentiated colorectal adenocarcinoma derived from a primary tumor of a patient

Establishment and characterization of a novel cell line (cc‑006cpm8) of moderately/poorly differentiated colorectal adenocarcinoma derived from a primary tumor of a patient

Meeting Report of the 4th Annual Meeting of the Chinese Society for Investigative Dermatology: Reflections on the Rise of Cutaneous Biology Research in China

Genetic studies on systemic lupus erythematosus in East Asia point to population differences in disease susceptibility

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