Th17 Cell Response in SOD1G93A Mice following Motor Nerve Injury by Allen Ni, Tao Yang, Nichole A. Mesnard-Hoaglin, Rafael Gutierrez, Evan B. Stubbs, Susan O. McGuire, Virginia M. Sanders, Kathryn J. Jones, Eileen M. Foecking, Junping Xin

“…Motor nerve injury exacerbates Th17 cell responses and may contribute to the development of ALS, especially in those who carry genetic susceptibility to this disease.…”
Get full text

Genome-Wide Association Study of Liver Enzymes in Korean Children by Tae-Joon Park, Joo-Yeon Hwang, Min Jin Go, Hye-Ja Lee, Han Byul Jang, Youngshim Choi, Jae Heon Kang, Kyung Hee Park, Min-Gyu Choi, Jihyun Song, Bong-Jo Kim, Jong-Young Lee

“…Genome-wide population-based association studies have identified a genetic susceptibility to liver enzyme elevations and their related traits; however, the genetic architecture in childhood remains largely unknown. …”
Get full text

Lack of Association of the Polymorphisms IL-17A (−197G/A) and IL-17F (+7488A/G) with Multibacillary Leprosy in Mexican Patients by Mónica Escamilla-Tilch, Iris Estrada-García, Julio Granados, Roberto Arenas-Guzmán, Rosalio Ramos-Payan, Thalía Gabriela Pérez-Suárez, Ma. Isabel Salazar, Riky Luis Pérez-Lucas, Sergio Estrada-Parra, Nora Magdalena Torres-Carrillo

“…Since the sample size is not large enough, it is difficult to sustain an association of susceptibility to leprosy with genotypes or allele frequencies of IL-17A G-197A (rs227593) and IL-17F A7488G (His161Arg, rs763780), suggesting that IL-17 polymorphisms have no significant role in the genetic susceptibility to development of this disease in the Mexican Mestizo population.…”
Get full text

Long-Term Follow-Up, Association between CARD15/NOD2 Polymorphisms, and Clinical Disease Behavior in Crohn’s Disease Surgical Patients by Francesco Giudici, Tiziana Cavalli, Cristina Luceri, Edda Russo, Daniela Zambonin, Stefano Scaringi, Ferdinando Ficari, Marilena Fazi, Amedeo Amedei, Francesco Tonelli, Cecilia Malentacchi

“…CARD15/NOD2 is the most significant genetic susceptibility in Crohn’s disease (CD) even though a relationship between the different polymorphisms and clinical phenotype has not been described yet. …”
Get full text

Development and evaluation of patient-centred polygenic risk score reports for glaucoma screening by Georgina L Hollitt, Mark M Hassall, Owen M Siggs, Jamie E Craig, Emmanuelle Souzeau

“…Abstract Background Polygenic risk scores (PRS), which provide an individual probabilistic estimate of genetic susceptibility to develop a disease, have shown effective risk stratification for glaucoma onset. …”
Get full text

Germline variants of the genes involved in NF-kB activation are associated with the risk of COPD and lung cancer development by Baranasic Jurica, Niazi Yasmeen, Chattopadhyay Subhayan, Rumora Lada, Ćorak Lorna, Dugac Andrea Vukić, Jakopović Marko, Samaržija Miroslav, Försti Asta, Knežević Jelena

“…However, not all smokers develop the disease, indicating that genetic susceptibility could be important. Therefore, the aim of this study was to search for the potential overlapping genetic biomarkers, with a focus on single nucleotide polymorphisms (SNPs) located in the regulatory regions of immune-related genes. …”
Get full text

Genetic Association and Expression Correlation between Colony-Stimulating Factor 1 Gene Encoding M-CSF and Adult-Onset Still’s Disease by Yi-Ming Chen, Wei-Ting Hung, Wan-Chun Chang, Chia-Wei Hsieh, Wen-Hung Chung, Joung-Liang Lan, Ning-Rong Gung, Yun-Shien Lee, Der-Yuan Chen, Shuen-Iu Hung

“…To assess the genetic susceptibility of AOSD, we conducted a genome-wide association study (GWAS) on a cohort of 70 AOSD cases and 688 controls following a replication study of 36 cases and 200 controls and meta-analysis. …”
Get full text

Pleiotropic Effects of a KCNQ1 Variant on Lipid Profiles and Type 2 Diabetes: A Family-Based Study in China by Xiaowen Wang, Junhui Wu, Yao Wu, Mengying Wang, Zijing Wang, Tao Wu, Dafang Chen, Xun Tang, Xueying Qin, Yiqun Wu, Yonghua Hu

“…Nevertheless, the genetic susceptibility for higher T2DM risk was correlated with higher high-density lipoprotein cholesterol (HDL-C) level (2%, 0-3%, P=0.026). …”
Get full text

Interaction of genetics risk score and fatty acids quality indices on healthy and unhealthy obesity phenotype by Niloufar Rasaei, Seyedeh Fatemeh Fatemi, Fatemeh Gholami, Mahsa Samadi, Mohammad Keshavarz Mohammadian, Elnaz Daneshzad, Khadijeh Mirzaei

“…Therefore, in this study, we investigated how dietary fat quality indices with metabolically healthy obesity (MHO) or metabolically unhealthy obesity (MUO) based on the Karelis criterion interact with genetic susceptibility in Iranian female adults. Methods In the current cross-sectional study, 279 women with overweight or obesity participated. …”
Get full text

Multi-ancestry genome-wide meta-analysis with 472,819 individuals identifies 32 novel risk loci for psoriasis by Min Zhang, Wenting Su, Jiahui Deng, Bin Zhai, Gaizhi Zhu, Ran Gao, Qi Zeng, Jinming Qiu, Ziqing Bian, He Xiao, Guoming Luan, Renxi Wang

“…However, deeper insight into the genetic susceptibility of psoriasis is still unclear. Methods Here we performed the largest multi-ancestry meta-analysis of genome-wide association study including 28,869 psoriasis cases and 443,950 healthy controls. …”
Get full text

Fluoride exposure, personal susceptibility and osteoarticular degeneration: Evidence from farmers in the Yellow River Basin of Henan Province by Zichen Feng, Long Sun, Shu Niu, Bin Liu, Ruijie Ba, Guoqing Wang, Qing Sun, Chunxiang Li, Yan Wang, Fangfang Yu, Guoyu Zhou, Yue Ba

“…More fruit consumption (>350 g/d) was beneficial to OAD prevention (OR=0.102; 95 %CI: 0.012, 0.850). Genetic susceptibility analysis showed that the CG genotype of calcitonin related polypeptide alpha (CALCA) rs1553005 loci was related to higher OAD risk (OR=1.959; 95 %CI: 1.003, 3.825), whereas higher methylation status of GNAS complex locus (GNAS) (OR=0.617; 95 %CI: 0.410, 0.929) and TC genotype of rs7121 loci (OR=0.569; 95 %CI: 0.371, 0.871) showed protective effect on OAD. …”
Get full text

Causal associations between osteoporosis and HBV infection across Asian and European populations: evidence from Mendelian randomization and colocalization analysis by Zhengnan Li, Jiarui Cao, Ke Li, Yixin Wu, Zhanpeng Luo, Rui Cao, Zhiheng Cheng, Zhendong Tian, Yiyang Han, Yuping Lai, Bangqi Wang, Shen Chen

“…However, a clear effect of genetic susceptibility to HBV on the enhanced risk of osteoporosis was not observed in two European cohort (IVW, OR = 1.000, 95% CI = 0.999 to 1.001, P = 0.171 and OR = 1.003, 95% CI = 0.981 to 1.025, P = 0.780). …”
Get full text

Autoimmune Hepatitis in Brazilian Children: IgE and Genetic Polymorphisms in Associated Genes by Léa Campos de Oliveira, Anna Carla Goldberg, Maria Lucia Carnevale Marin, Karina Rosa Schneidwind, Amanda Farage Frade, Jorge Kalil, Irene Kasue Miura, Renata Pereira Sustovich Pugliese, Vera Lucia Baggio Danesi, Gilda Porta

“…Additionally, we typed 117 patients and 227 controls for functional polymorphisms of IL4, IL13, IL5, and IL4RA genes involved in IgE switching and eosinophil maturation that might contribute to overall genetic susceptibility to AIH. Serum IgE levels were high in 55% of AIH-1, but only in 12% of AIH-2 (P=0.003) patients. …”
Get full text

The SERPINB4 gene mutation identified in twin patients with Crohn’s disease impaires the intestinal epithelial cell functions by Xiao-Mei Ouyang, Jun-Hui Lin, Ying Lin, Xian-Ling Zhao, Ya‐Ni Huo, Lai-Ying Liang, Yong-Dong Huang, Gui-Jing Xie, Peng Mi, Zhen-Yu Ye, Bayasi Guleng

“…To identify new targets related to the initiation of CD, we screened a pair of twins with CD, which is a rare phenomenon in the Chinese population, for genetic susceptibility factors. Whole-exome sequencing (WES) of these patients revealed a mutation in their SERPINB4 gene. …”
Get full text

Association between P2RY12 Gene Polymorphisms and IVIG Resistance in Kawasaki Patients by Zhouping Wang, Yufen Xu, Huazhong Zhou, Yanfei Wang, Wei Li, Zhaoliang Lu, Zhiyong Jiang, Xueping Gu, Hao Zheng, Lanlan Zeng, Ping Huang, Li Zhang, Xiaoqiong Gu

“…Despite the association between Purinergic receptor P2Y12 (P2RY12) polymorphism, KD genetic susceptibility, and CAL complications being proved, few studies have assessed the relationship between P2RY12 polymorphisms and IVIG resistance in patients with KD. …”
Get full text

A novel truncated fusion gene ETV6::AC010198.2 in post-MPN acute myeloid leukemia caused by del(12)(p13p11) by Jiao Lu, Jiao Lu, Guanqun Yang, Qiurong Zhang, Man Wang, Man Wang, Lijun Wang, Lijun Wang, Lu Chen, Haoyue Chen, Xin Jiang, Chunhua Liu, Tong Lin, Qiaoyan Han, Zefa Liu, Shi Zhen, Zhao Zeng, Jinlan Pan, Jiannong Cen, Suning Chen, Suning Chen, Zheng Wang, Zheng Wang, Xingxia Zhang, Miao Sun

“…The gene ETV6 has been confirmed to be a genetic susceptibility gene for thrombocytopenia and leukemia. …”
Get full text

Bridging animal models and humans: neuroimaging as intermediate phenotypes linking genetic or stress factors to anhedonia by Huiling Guo, Yao Xiao, Shuai Dong, Jingyu Yang, Pengfei Zhao, Tongtong Zhao, Aoling Cai, Lili Tang, Juan Liu, Hui Wang, Ruifang Hua, Rongxun Liu, Yange Wei, Dandan Sun, Zhongchun Liu, Mingrui Xia, Yong He, Yankun Wu, Tianmei Si, Fay Y. Womer, Fuqiang Xu, Yanqing Tang, Jie Wang, Weixiong Zhang, Xizhe Zhang, Fei Wang

“…The subtype resembling P11 knockout demonstrated higher genetic susceptibility, with enriched expression of risk genes in brain tissues and abnormal metabolites linked to tryptophan metabolism. …”
Get full text

The Effects of Alpha Interferon on the Development of Autoimmune Thyroiditis in the NOD H2h4 Mouse by Yael Oppenheim, Grace Kim, Yoshiyuki Ban, Pamela Unger, Erlinda Concepcion, Takao Ando, Yaron Tomer

“…The aim of our study was to examine whether αIFN accelerated the development of thyroiditis in genetically susceptible mice. We took advantage of NOD-H2h4, a genetically susceptible animal model, which develops thyroiditis when fed a high iodine diet. …”
Get full text

Cardiomyopathy Associated with Celiac Disease in Childhood by Aleksandra Boskovic, Ivana Kitic, Dragan Prokic, Ivica Stankovic

“…Celiac disease is predominantly a disease of the small intestine characterized by chronic malabsorption in genetically susceptible individuals who ingest grains containing gluten, such as wheat, barley, and rye. …”
Get full text

Adult-onset Still's disease: A great masquerader triggered by hepatitis A infection by Jhasaketan Meher, Keshao B Nagpure, Md Sabah Siddiqui, A M Vishnu Dev

“…Various infectious triggers in a genetically susceptible host have been described in literature. …”
Get full text