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A Genome-Wide Association Study Identifies Seven Novel Loci Associated with Primary Biliary Cholangitis in a Han Chinese Population

A Genome-Wide Association Study Identifies Seven Novel Loci ...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： liu xiangdong 东南大学生命科学研究院

Objective Primary biliary cholangitis(PBC) is the most prevalent autoimmune liver disease, leading to severe liver cirrhosis in advanced stages and eventually death as a result of liver failure. The concentration of PBC in family members, especially twins, points strongly to a genetic basis. Multiple genome-wide association(GWA) studies in PBC patients of European ancestry have shown significant association of more than 20 loci with the susceptibility to PBC. However, major differences were observed in a GWA study involving 487 PBC cases of Japanese origin. Here we report that we performed a large case-control GWAS of 1127 PBC subjects and 4074 controls of Han Chinese origin with the goals of identifying additional genetic risk factors for PBC and understanding the significant differences in susceptibility to the disease between European and Asian populations. Method A large case-control GWAS of 1127 PBC subjects and 4074 controls of self-declared Han Chinese origin was performed with the Human Omni Zhong Hua-8 beadchip(v1.1), which contains 894,956 markers covering common, intermediate, and rare variations found within Chinese populations. Among the significant SNPs identified, 2 SNPs from the HLA region and 31 SNPs from 23 non-HLA loci were selected for replication in 907 PBC cases and 2,127 controls, using Sequenom i Plex system. The final combined analysis included 2,029 PBC cases and 6,163 controls. Result We confirmed significant association of the HLA region and 15 non-HLA loci, including 7 novel loci, with PBC. The most significant association was observed with rs9268644, a variant in HLA-DRA region, with the combined p value of 7.83 × 1031. Among the non-HLA loci, the strongest association was observed in rs4979467, a SNP in the TNFSF15-TNFSF8 locus. Among the known risk loci, IL12 A was found to be strongly associated with Han Chinese PBC cohorts, in contrast to the Japanese GWAS result. Multiple SNPs across the CD28-CTLA4 locus reaching genome-wide signif

关键词： A Genome-Wide Association Study Identifies Seven Novel Loci Associated with Primary Biliary Cholangitis in a Han Chinese Population PBC HLA

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Long noncoding RNA H19 inhibits the proliferation of fetal liver cells and the Wnt signaling pathway

Long noncoding RNA H19 inhibits the proliferation of fetal l...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： wang fang wang shaobing wu xia liu yan yuan jihang huang jinfeng yang fu sun shuhan zheng jiasheng Department of Medical Genetics Second Military Medical University Department of Infectious Diseases The Second Affiliated Hospital of Harbin Medical University

Objective H19 has been reported to repress proliferation as a precursor of mi R-675;however, in the present study, we found that the transcript level of mi R-675 did not correlate with H19 express ion in mouse fetal liver tissues. Thus, H19 appears to inhibit the proliferation of fetal liver cells via other molecular mechanisms. This study is used to illustrate other molecular mechanisms of H19 inhibition the proliferation of fetal liver cells. Method In this study, we found that H19 is the most strongly differentially expressed long noncodi ng RNA(lnc RNA) during liver development by real-time PCR using H19-specific primers. Moreov er, the function of H19 in fetal liver cells was explored in vitro. Genome-wide Ch IP-seq analysis w as used to elucidate the molecular mechanisms of H19 inhibition the proliferation of fetal liver cell s. Result In this study, we found that H19 is the most strongly differentially expressed long noncodi ng RNA(lnc RNA) during liver development. H19 may inhibit the proliferation of fetal liver cells by blocking the interaction between heterogeneous nuclear ribonucleoprotein(hn RNP) U and actin, which results in gene transcriptional repression. Based on Ch IP-seq analysis, we found that gene s involved in the Wnt signaling pathway are enriched among hn RNP U-binding genes. Further inv estigation demonstrated that hn RNP U has opposing effects on cell proliferation and Wnt/b-cateni n signaling pathway activity compared to H19 and that hn RNP U is very important in this process. Conclusion Our findings provide a novel understanding of the role of H19 in liver development.

关键词： RNA Wnt Long noncoding RNA H19 inhibits the proliferation of fetal liver cells and the Wnt signaling pathway

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Genomic alterations in the BCHE gene associate with a reduction in ovarian cancer recurrence and prolonged the overall survival in patients with ovarian cancer

Genomic alterations in the BCHE gene associate with a reduct...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： wei fengxiang tang damu The Genetics Laboratory Maternity and Child Healthcare Hospital Longgang District

Objective Ovarian cancer(OC) is the most lethal gynecologic cancer and the fifth leading cause of malignancy-associated deaths in women. There were 238,719 new OC cases and 151,905 OC-associated deaths in 2012(World Cancer Report 2014). High grade serous OC(HGSOC) constit utes the majority of the disease and results in approximately 70% of OC deaths(Int J Gynecol. P athol. 23, 41-44, 2004). It is thus important to better understand the genetic events associated wit h HGSOC. In this regard, we noticed a report(J. Clin Invest. 86, 900-908,1990) for amplification a nd mutations in the BCHE genes in 6 of 11 OCs. However, these alterations have not been confir med in a large patient cohort and their clinical relevance remains unclear. This research will inves tigate genomic alterations in the BCHE gene and their association with OC-related clinical events. Method The recent advance in sequencing technology(the second generation DNA sequencing) allows systemically sequencing of a variety of cancer genomes. As a result, large sets of cancer g enomic data have been deposited into the c Bio Portal database(http://***/). By ta king advantage of this collection, we have performed in silico analyses of BCHE-association copy number variation(CNV) and mutation in a large HGSOC patient cohort, 316 patients/HGSOCs wi th whole-exome sequencing(WES) and CNV examined(Nature 474, 609-615, 2011). Kaplan-Mei er surviving curves and log-rank test were performed. A p-value <0.05 was considered statisticall y significant. Result WES and CNV have been performed in 316 HGSOCs and their matched non-tumor tissue s(Nature 474, 609-615, 2011). In our analysis of this cohort, we observed increases in BCHE ge ne copy number or amplification in 15%(47/316) of HGSOCs. In this patient group, 34%(16/47) have died with the medium survival time being 70.77 month. For 268 patients without BCHE gene amplification, 61.6%(165/268) have deceased;their medium survival was 43.5 month. Patients wi

关键词： Genomic alterations in the BCHE gene associate with a reduction in ovarian cancer recurrence and prolonged the overall survival in patients with ovarian cancer

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Deregulated PITX1 is involved in anti-chemotherapy in gastric cancer

Deregulated PITX1 is involved in anti-chemotherapy in gastri...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Zhao zhujiang Shen Xiaohui Gong Pihai Song Wei Zhou Menghan Zhen Ying Fan Hong Department of Medical Genetics and Developmental Biology Medical School of Southeast University

Objective The 5-fluorouracil(5 FU)-based adjuvant chemotherapy improves the survival of patient s with gastric cancer,however, the main obstacle affecting its effectiveness is a drug resistance. The aim of our study was to investigate the influence of PITX1 overexpressing or losing on the s ensitivity of gastric cancer cells to 5 FU and explore the potential regulation mechanism of transcri ptional factor PITX1 induced cell apoptosis in gastric cancer. Method The overexpression and downexpression of PITX1 in human gastric cancer cell lines wer e both achieved by transient transfection, then the different groups of cells were treated with the concentration of IC30, CCK-8 was employed to detect the growth ability. Besides, flow cytometry w as applied to evaluate the cell cycle and cell apoptosis rate. Luciferase Reporter Assay and EMS A were utilized to validate that PITX1 binds to the promoter of PDCD5. Moreover, the role of PDC D5 in cell apoptosis was also examined by flow cytometry. The expression of PDCD5 m RNA wa s detected in PITX1 overexpression and knocked down cell models by RT-q PCR. Result PITX1 actually affected the sensitivity to 5 FU in human gastric cancer cells, the overexpre ssion of PITX1 markedly inhibited cell growth in AGS and BGC-823. Importantly, the combination of 5-Fu and PITX1 overexpression exerted synergetic effect in weakening the proliferation ability and promoting apoptosis in gastric cancer cells, in other words, PIXT1 increased the cytotoxic eff ect of 5 FU and the sensitivity of gastric cancer cells to 5 FU. Oppositely, the loss of PIXT1 decrea sed the cytotoxic effect of 5 FU and the sensitivity of gastric cancer cells to 5 FU. Conclusion On the other hand, PITX1 binding to the promoter of PDCD5 and promoting its trans cription were validated by Luciferase Reporter Assay and EMSA. PDCD5 involved in cell apoptosi s, enforced expression of PDCD5 increased cell apoptosis in AGS and BGC-823 cells whereas P DCD5 RNAi reduced the rated of

关键词： Deregulated PITX1 is involved in anti-chemotherapy in gastric cancer

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Identification of a Novel Nonsense Mutation of the NTRK1 Gene in Two Siblings with Congenital Insensitivity to Pain with Anhidrosis

Identification of a Novel Nonsense Mutation of the NTRK1 Gen...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Li Haibo Wang Ting Xiang Jingjing Wei Bin Zhang Qin Zhu QIn Liu Minjuan Sun Miao Li Hong Center for Reproduction and Genetics The affiliated Suzhou Hospital of Nanjing Medical University The First Affiliated Hospital of Soochow University

Objective Congenital insensitivity to pain with anhidrosis（CIPA）, also known as hereditary senso ry and autonomic neuropathy type IV（HSAN IV）, is a rare autosomal-recessive disorder characte rized by insensitivity to noxious stimuli, recurrent episodes of hyperthermia, self-mutilating behavi ors and intellectual disability. Mutations in Neurotrophic tyrosine kinase receptor type 1（NTRK1） gene were demonstrated to be associated with this disorder. In this study, we described two Chin ese siblings with typical CIPA phenotypes. Mutation screening of the NTRK1 gene revealed that a novel nonsense mutation and a known splice-site mutation are responsible for this disorder. Method Clinical and genetic analyses were conducted on two Chinese siblings with typical sympt oms of CIPA including insensitivity to pain, inability to sweat and self-mutilating behaviors. Periph eral blood was collected from all the family members after giving informed consent. Examination of chromosomal karyotype was performed for both affected children. Genomic DNA was extracte d from the blood samples. All seventeen exons and intron-exon boundaries of the NRTK1 gene were amplified by PCR. The amplified DNA fragments were purified and sequenced in both directi ons using ABI 3130 Genetic Analyzer. The resulting sequences were analyzed and compared wit h the reference sequence of NTRK1（NM02529.3） in the NCBI database. Result Paternal mutation c.7 C>T found within exon 1 is a novel nonsense mutation, which result ed in a premature termination of m RNA translation. Maternal mutation c.851-33 T>A was a splice-site mutation detected within intron 7, which causes aberrant splicing and had been proved to be a pathogenic mutation Conclusion Our findings expand the known mutation spectrum of NTRK1 gene and provide insig hts into future studies related to CIPA.

关键词： Identification of a Novel Nonsense Mutation of the NTRK1 Gene in Two Siblings with Congenital Insensitivity to Pain with Anhidrosis

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Characterization of IQCB1/NPHP5-related retinal ciliopathy in a mouse model

Characterization of IQCB1/NPHP5-related retinal ciliopathy i...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Jiang Li Baehr Wolfgang Clinical Laboratory Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital Department of Ophthalmology John A.Moran Eye Center University of Utah Health Science Center

Objective Null mutations in the human IQCB1/NPHP5(nephrocystin-5) gene that encodes NPHP5 are the most frequent cause of Senior-Loken syndrome, a ciliopathy that is characterized by Leber congenital amaurosis and nephronophthisis. NPHP5 protein posses IQ calmodulin(Ca M)-binding motifs, localizes at the photoreceptor cilia with unknown function. In this study, we aim to develop a mouse model of Nphp5-related retinal ciliopathy and to reveal the molecular mechanisms underlying the disease. Method We generated germline Nphp5 knockout mice by placing a β-Geo gene trap in intron 4, thereby truncating NPHP5 at Leu87 and removing all known functional domains. The retinal morphology and function of Nphp5-/-mice were studied by using retinal histology, electroretinography, immunochemistry, and electromicroscopy analysis. Result At eye opening, Nphp5-/-mice exhibited absence of scotopic and photopic electroretinogram responses, a phenotype that resembles Leber congenital amaurosis. Outer segment transmembrane protein accumulation in Nphp5-/-endoplasmic reticulum was evident as early as postnatal day(P)6. EGFP-CETN2, a centrosome and transition zone marker, identified basal bodies in Nphp5-/-photoreceptors, but without fully developed transition zones. Ultrastructure of P6 and 10 Nphp5-/-photoreceptors revealed aberrant transition zones of reduced diameter. Nphp5-/-photoreceptor degeneration was complete at 1 month of age but was delayed significantly in Nphp5-/-;Nrl-/-(cone only) retina. Nphp5-/-mouse embryonic fibroblast developed normal cilia, and Nphp5-/-kidney histology at 1 year of age showed no significant pathology. Conclusion Our results demonstrated that NPHP5 is essential for photoreceptor outer segment formation but is dispensable for kidney and mouse embryonic fibroblast ciliary formation. And it suggests that the failure in photoreceptor ciliogenesis is the underlying mechanisms of IQCB1/NPHP5-related Leber congenital amaurosis.

关键词： Characterization of IQCB1/NPHP5-related retinal ciliopathy in a mouse model

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Genome-Wide Loci Linked to Non-Obstructive Azoospermi a Susceptibility May Be Independent of Reduced Sperm Pr oduction in Males with Normozoospermia

Genome-Wide Loci Linked to Non-Obstructive Azoospermi a Susc...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Yang Yuan Tu Wenling Liu Yunqiang Shen Ying Yan Yuanlong Wang Xianding Yang Dong Li Lei Ma Yongyi Tao Dachang Zhang Sizhong Department of Medical Genetics State Key Laboratory of Biotherapy West China Hospital Sichuan University Department of Urology West China Hospital Sichuan University Chengdu Reproductive Medicine Institute Chengdu Women's and Children's Central Hospital Reproductive Medicine Center West China Second Hospital Sichuan University

Objective Non-obstructive azoospermia(NOA) is a complex, multifactorialdisease. Recent geno me-wide association studies(GWAS) have identified eight NOA susceptibility loci at genome-wid e significance of P< 5.0 X10-8 in Han Chinese from southeastern, northern, and central China. Method To better understand the role of the variants in conferring NOA risk, we selected four GW AS loci(HLA-DRA rs3129878, PRMT6 rs12097821, SOX5 rs10842262, and PEX10 rs2477686) t hat were reported before 2014 to investigate their association with NOA and their potential effects on sperm production in 1177 Han males from southwest China, including 545 patients with idiopa thic NOA and 632 controls with normozoospermia. Result The results confirmed that the HLA-DRA rs3129878 was an NOA susceptibility locus in th e present population. Along with our data, meta-analyses supported the association of the four G WAS-linked loci with NOA, whereas an additive effect of the four loci on NOA susceptibility was n ot found. Interestingly, the normozoospermic males with the risk genotypes of rs12097821 and rs3129878 + rs10842262 + rs12097821 were observed to have higher total sperm counts relative t o non-risk genotypes. Conclusion Our work suggests that the risk alleles of the genetic loci may not be via impairing sp ermatogenic ability to express susceptibility to NOA. These findings may advance our understand ing of the role of the NOA susceptibility loci, although the results need to be confirmed in larger samples.

关键词： NOA Genome-Wide Loci Linked to Non-Obstructive Azoospermi a Susceptibility May Be Independent of Reduced Sperm Pr oduction in Males with Normozoospermia

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Decreased activity of RCAN1-4 promoter is a potentially risk factor for congenital heart defects in Han Chinese population

Decreased activity of RCAN1-4 promoter is a potentially risk...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Cheng liang ping Li pei qiang Wang he Zhou hui ming Tian jie Wang hong yan Heart Centre Children's Hospital of Chongqing Medical University The State Key Laboratory of Genetic Engineering.MOE Key Laboratory of Contemporary Anthropology Colla borative Innovation Center of Genetics and Development School of Life Science Fudan University

Objective The regulator of calcineurin 1(RCAN1) gene is located at human chromosome 21 q22.12,which region is thought to be associated with congenital heart defects(CHD) observed in Do wn syndrome(DS). Human chromosome 21 q22.12 habors more than 50 genes, but none has be en proved to be responsible for the pathogenesis of CHD in DS. Calcineurin/NFAT signal transdu ction pathway that plays important roles for heart development and RCAN1 encodes a regulatory protein of calcineurin/NFAT signaling. Therefore, we hypothesized that RCAN1 also play a role in prevention of CHD. RCAN1-4 regulatory region are also related to CHDs. Method To test our hypothesis, we sequenced the 5 kb of upstream regulatory region of the RCA N1 in 868 CHD patients and 1320 controls in a Han Chinese population. Then we used q-PCR, lu ciferase assay,EMSA and Bioinformatics analysis method to complete the study. Result The five single nucleotide polymorphisms(SNPs) were identified and three of which are in strong linkage disequilibrium and the minor alleles are associated with higher CHD risk(for rs2243890 chosen as tag SNP, p = 6.51 e-06, OR(95% CI) = 1.62(1.29-2.03)). To further analyze if the se SNP are functional allele we performed functional analysis. Our ouciferase reporter assay sho wed that the minor G allele of rs2243890 has lower transcriptional activity than major A allele of rs2243890 in both human heart tissues and three human and mouse heart cell lines. The electroph oretic mobility shift assay also suggests that the minor allele exhibit higher binding affinity with cer tain transcription *** Our results indicate that a moderately lower RCAN1 activity potentially increases CH D risk in the Han Chinese population, providing new insight in the study of CHD etiology.

关键词： Decreased activity of RCAN1-4 promoter is a potentially risk factor for congenital heart defects in Han Chinese population CHD

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Integrated miRNA and mRNA expression profiling in fetal hippocampus with Down syndrome

Integrated miRNA and mRNA expression profiling in fetal hipp...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Shi Wei-li Hou Qiaofang Liao Shixiu Henan Provincial People's Hospital People's Hospital of Zhengzhou University

Objective Down syndrome(DS), caused by triplication of human chromosome 21, is the most common aneuploidies. The main characteristic of DS patients is intellectual disability. Micro RNAs(mi RNAs) play important regulatory roles in various biological processes, such as embryonic development, cell differentiation, proliferation and apoptosis. And several mi RNAs have been involved in DS. In this research, the pathological role of mi RNA in DS fetus was investigated. Method In this research, total RNA extracted from fetal hippocampal tissues was used to analyze mi RNA and m RNA expression via Affymetrix mi RNA 4.0 and Prime View Human Gene Expression Array, respectively. Then mi RNA and gene expression profiles were integrated by correlation analysis to identify dysregulated mi RNAs with their predicted target m RNAs. Microarray data were further validated by real-time PCR. Regulation of zeste homolog 2(EZH2) expression by hsa-mi R-138 was determined by luciferase reporter assay. Result We analyzed micro RNA expression profile in hippocampal tissues from DS fetal using mi RNA *** with the use of m RNA microarray data, we integrate mi RNA expression and m RNA expression?in hippocampus of trisomy 21 fetus to elucidate the mechanism that underlying DS abnormalities. We characterized the repertoire of specific mi RNAs involved in hippocampus in trisomy 21 patients, highlighting hsa-mi R-138 and hsa-mi R-409, in particular the importance of hsa-mi R-138, especially the-5 p strand. Furthermore, the expression level of predicted target genes of hsa-mi R-138-5 p in trisomy 21 fetus, including zeste homolog 2(EZH2) were further confirmed. In addition, luciferase assay indicated that EZH2 was a direct target of hsa-mi R-138 in HEK293 T cells. Conclusion The function of hsa-mi R-138-5 p and its target EZH2 was involved in hippocampus in DS fetus. As how hsa-mi R-138-5 p and its target EZH2 play roles in DS fetus need further investigation.

关键词： RNA Integrated miRNA and mRNA expression profiling in fetal hippocampus with Down syndrome

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A novel loss-of function heterozygous c.8946del AG mutation in a Chinese woman with family breast cancer history

A novel loss-of function heterozygous c.8946del AG mutation ...

引用

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Ma Jing Yang Jichun Jian Wenjing Wang Xianming Xiao Deyong Xiong Likuan Ma Duan Key Laboratory of Metabolism and Molecular Medicine Ministry of Education Department of Biochemistry and Molecular Biology Collaborative Innovation Center of Genetics and Development Institutes of Biomedical Sciences School of Basic Medical Sciences Fudan University Center Laboratory Bao'an Maternal and Children Healthcare Hospital Key Laboratory of Birth Defects Rese archShenzhen Department of Breast Surgery The First Affiliated Hospital of Shenzhen UniversityThe Second People's Hospital Shenzhen Breast Cancer Center The Third Affiliated Hospital of Sun Yat-Sen UniversityGuangzhou

Objective Breast cancer is the most frequent female malignancy worldwide. About 5%-10% of ca ses have hereditary susceptibility with mutation in the two tumor suppressor genes, BRCA1 and BRCA2. Heterozygous germ line mutations in them are related with increased risk of breast, ovari an and other cancer, following autosomal dominant inheritance mode. Method To investigate the early diagnosis and early treatmentfor breast or ovarian cancer, seque ncing of BRCA1/2 was performed in unselected 300 breast or ovarian patients and unaffected women using Next Generation and Sanger sequen cing. Result A novel heterozygous mutation c.8946 del AG(p.3016 Rfs X) of BRCA2 gene was identified in an unaffected Chinese woman with breast cancer family history(her breast cancer mother, als o carrying this mutation). By prediction and in vitro cell experiments, the BRCA2 truncated protein resulted from the frame shift mutation was found to lose two putative nuclear localization signals(NLSs) and a Rad51-binding motif in the extreme C-terminal region, which was verified by the Im munofluorescence assay that mutant protein was unable to translocate to the nucleus. Conclusion This novel mutant BRCA2 protein is dysfunction. Therefore, we classify c.8946 del A G(p.3016 Rfs X) of BRCA2 into disease causing mutation in chinese and suggested it as the risk factor for breast cancer in this family. So, conducting the sa me mutation test and providing genetic counseling for this family is practically meaningful and sig nificant. Meanwhile, the identification of this new mutation enriches the Breast Cancer Information Core database(BICD), especially in China.

关键词： A novel loss-of function heterozygous c.8946del AG mutation in a Chinese woman with family breast cancer history

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