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Neuron-specific Cul4b knockout mice recapture the cognitive impairment phenotype in human X-linked mental retardation patients

Neuron-specific Cul4b knockout mice recapture the cognitive ...

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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 Baichun Zhao Wei Zhang Shuqian Hu Huili Shao Changshun Gong Yaoqin The Key Laboratory of Experimental Teratology Ministry of Education and Department of Medical GeneticsShandong University School of Medicine

Objective Mutations in CUL4 B gene are one of the most common causes of X-linked mental retardation. Although the E3 ubiquitin ligase complex formed by CUL4 B(CRL4 B) is known to target substrates for proteolysis or to coordinate with PRC2 complex in promoting H3 K27 trimethylation and transcriptional repression, how CUL4 B dysfunction causes mental retardation remains unclear. To gain insights into the mechanisms by which CUL4 B regulates neural development, we employed three lines of conditional knockout mice and observed the learning and memory abilities of these mice. Method We crossed Cul4 b floxed mice with Nestin-Cre transgenic mice to generate nervous system specific Cul4 b conditional knock-out mice(referred to as Cul4 bNestin-Cre hereinafter). We further crossed Cul4 b floxed mice to Nse-Cre or Gfap-Cre transgenic mice to generate neuronspecific Cul4 b knockout mice(Cul4 bNse-Cre) or astrocyte-specific Cul4 b knockout mice(Cul4 bGfapCre), respectively. Result Here we report that mice lacking expression of Cul4 b in nervous system(Cul4 bNestin-Cre) are impaired in spatial learning and memory. To further determine the cell type responsible for the impaired spatial learning and memory in Cul4 bNestin-Cre mice, we characterized two lines of mice that lack expression of Cul4 b in neurons(Cul4 bNse-Cre) and in astrocytes(Cul4 bGfap-Cre), respectively. We observed that learning and memory were impaired in Cul4 bNse-Cre mice, but not in the Cul4 bGfap-Cre line, suggesting that the impairment in spatial learning and memory in Cul4 bNestin-Cre mice was due to the lack of Cul4 b in neurons but not in astrocytes. Conclusion Together, our results demonstrate a critical role of CUL4 B in neuronal function and provide a potential model for human X-linked mental retardation.

关键词： Cre Neuron-specific Cul4b knockout mice recapture the cognitive impairment phenotype in human X-linked mental retardation patients

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A preliminary therapeutic effect of a new anti-TNF-α drug on AI mouse model

A preliminary therapeutic effect of a new anti-TNF-α drug o...

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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 Jun Wang Lianqing Huang Yingzhi Liu Keqiang Zhu Lei Liu Yaping Zhang Xue Department of Medical Genetics School of Basic Medicine Peking Union Medical College Department of Pharmacology School of Basic Medicine Peking Union Medical College

Objective To investigate whether a new developed anti-TNF-α drug(provided by department of Pharmacology in Peking Union Medical College) has effect on relieving the symptom of Ncstnco/co;K5-Cre mice. Method Ncstnco/co;K5-Cre mice were divided into an experimental group and a control group. Mi ce in two groups were treated with a new anti-TNF-α drug and PEG, respectively, by means of int ragastric administration once a day from weaning to 45 th day with a dose of 0.1 ml/10 g. The back skin tissue from each treated mouse was then collected on the 45 th day. HE staining, real-time P CR and western blotting experiments on these skin samples were conducted to detect the chang es of inflammatory cytokines. Result We totally collected 9 littermates, 5 were treated by drug and 4 were treated by PEG, resp ectively. We observed the phenotypes of the experimental mice became milder than that of the co ntrol mice. And then we detected the decreased expression of inflammatory cytokines of TNF-α,I L23 and also the newly identified cytokine IL1 F6, in experimental mice. The result was confirmed by HE staining, real-time PCR and western blotting. Conclusion Previously, we have successfully established a keratinocyte-specific null mutant of N cstn(Ncstnco/co;K5-Cre) in mice using the Cre-lox P system, exhibiting AI-like phenotypes includ ing progressive keratinization and atrophy in hair follicles. In Human, AI can be treated by anti-TN F-α drug but the effect is limited and varies among treated patients. Nevertheless, in mice, we ha ve identified that both the symptom of keratosis and inflammation were relieved obviously after th e treatment of a new anti-TNF-α drug in littermates mice. However, consistent results from more t reated mice are needed to further support this preliminary result. Meanwhile, the trend that IL1 F6, our previously identified inflammatory factor that may initiate the immune response in AI patients, showed the response to the drug, may add a line of evidence

关键词： drug on AI mouse model A preliminary therapeutic effect of a new anti-TNF

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Identification of A Novel Homozygous 940 bp Deletion in the CFTR Gene in A Chinese Cystic Fibrosis Patient

Identification of A Novel Homozygous 940 bp Deletion in the ...

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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 Keqiang Tian Xinlun Li Xue Xu Kaifeng Liu Yaping Zhang Xue McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular Biology Institute of Basic Medical Sciences Chinese Academy of Medical Sciences & Peking Union Medical College Department of Respiratory Medicine Peking Union Medical College Hospital

Objective Cystic fibrosis（CF） is the most frequent severe autosomal recessive disease among C aucasians, but relatively rare in Asian populations. A 16-year-old Chinese CF patient was enrolle d in this study to make genetic diagnosis and analysis, whose sweat chloride value was 104 mmo l/L. Method Exon sequencing, multiplex ligation-dependent probe amplification（MLPA） and real-time quantitative PCR analyses of CFTR were employed to make a molecular diagnosis of the patient. The rearrangement junctions were accurately annotated by long PCR. Homozygosity mapping of CFTR was performed applying neighboring single nucleotide polymorphisms（SNPs） genotyping and whole genome SNP microarray（Affymetrix 6.0）. Potential secondary structure internal to thetwo breakpoints was predicted using RNA structure Web Servers（http://***/R NAstructure Web/）. Result The patient carried a homozygous deletion of 940 bp involving exon 20 of CFTR, which w as detected by MLPA and verified by quantitative PCR of genomic DNA. Molecular characterizati on of the rearrangement breakpoints indicated that both alleles of the patients had an identical co mplex c.3140-454.3367+259 delins（p.R10481123 del） mutation. Within a region of about 1 M b centered by CFTR, six common SNPs with high allele frequency were genotyped and the result s showed that all six SNPs were homozygous. Subsequently, whole genome homozygosity mapp ing showed a single homozygous interval stretching over 14 Mb on patient‘s chromosome 7, cove ring the CFTR gene. Other than that, there were no much more homozygous intervals compared t o general population, which didn‘t support the hypothesis of its possible origin from consanguineo us mating, but rather indicated that the two identical deletions from paternal and maternal chromo somes were caused by independent events. Computer analysis of the deleted sequence revealed a "pan-handle" secondary structure: the sequences immediately external to the breakpoints form ed

关键词： Identification of A Novel Homozygous 940 bp Deletion in the CFTR Gene in A Chinese Cystic Fibrosis Patient

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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 ...

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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： 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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17p13.3 microduplication in a Chinese family with split-hand/foot malformation

17p13.3 microduplication in a Chinese family with split-hand...

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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： Shen Yuqi Si Nuo Meng Xiaolu Liu Fang Zhang Ying Zhang Xue Department of Medical Genetics and National Key Laboratory of Medical Molecular Biology Institute of Basic Medical Sciences Chinese Academy of Medical Sciences School of Basic Medicine Peking Union Medical College Department of Obstetrics and Gynecology General Hospital of Tianjin Medical University

Objective Background Split-hand/foot malformation, affecting 1 in 8,500-25,000 newborns, is a developmental limb malformation characterized by median clefts of the hands and feet, syndactyly, and aplasia/hypoplasia of the phalanges, metacarpals, and metatarsals. It‘s extremely complex on account of its variable expressivity, imcomplete penetrance, and heterogeneous background. To date, six responsible genes/loci（SHFM1-6） have been identified in isolated SHFM, while seve ral loci and genomic rearrangements were reported to be associated with other types, such as SH FM with long bone deficiency（SHFLD）. Objective To identify the pathogenic gene mutations or genomic rearrangements in a Chinese fa mily with split hand/foot malformation（SHFM）. Method Methods A four-generation Chinese family with split hand/foot malformation was recruite d from Tianjing province. Genomic DNA of family members were extracted from peripheral blood. Linkage analysis and direct sequencing of candidate genes were used to exclude six responsible genes/loci for isolated SHFM. Array CGH（Agilent Sure Print G3 Human CGH Microarray 2 x400 K） was performed to detect copy number variations in a genome-scale, and quantitative real-time P CR（q PCR） assays were designed in the BHLHA9 to validate the identified copy number variation in the index and other family members. Result Results No mutations in responsible genes or loci linked to isolated SHFM were found. A 80 kb duplication containing BHLHA9 on the chromosome 17 p13.3 was identified by array CG H in the index patient presented with SHFLD. The q PCR assays confirmed the duplication of BHL HA9 in all available affected family members and co-segregation with malformation in the family. Conclusion Conclusions The 80 kb duplication involving the BHLHA9 on the chromosome 17 p13.3 is associated with split-hand/foot malformation and long-bone deficiency in the present family.

关键词： microduplication in a Chinese family with split-hand/foot malformation

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CYB5D2 is novel tumor suppressor for clear cell renal cell carcinoma(cc RCC)

CYB5D2 is novel tumor suppressor for clear cell renal cell c...

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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 Objectives-Clear cell renal cell carcinoma(cc RCC) is the most common and the most aggressive type of kidney cancer. The disease is thus the major cause of death associated with kidney cancer. Currently, treatment options for metastatic cc RCC are limited and ineffective, which is in a large part attributed to our incomplete understanding cc RCC pathogenesis. We have recently identified a novel tumor suppressor CYB5 D2 of cervical cancer(Biochimica et Biophysica Acta 1862, 556-565, 2016). In this investigation, we will determine if CYB5 D2 also suppresses cc RCC tumorigenesis using both in vitro and in vivo systems. Method Materials and Methods-CYB5 D2 was overexpressed in a commonly used cc RCC cell line, A498. The impact of CYB5 D2 expression on A498 cell‘s proliferation and invasion ability was determined. Whether CYB5 D2 represses A498 cell‘s ability to form xenograft tumors in NOD/SCID mice was also examined. We also investigated the underlying mechanisms responsible for CYB5 D2-mediated suppression of cc RCC tumorigenesis. Result Results – We have established A498 lines stable expression of either empty vector(EV) or CYB5 D2. In comparison to EV cells, CYB5 D2 overexpression slightly reduced A498 cell proliferation, and significantly repressed A498 cell‘s invasion ability. In accordance with cell‘s invasion capacity in vitro being tightly associated with their ability of tumor formation in vivo, we were able to demonstrate that all 4 NOD/SCID mice(100%) implanted with A498 EV cells formed tumors, while 2 out of 4(50%) NOD/SCID mice injected with A498 CYB5 D2 cells yielded xenograft tumors. Furthermore, tumors produced by A498 EV cells were significantly larger than two tumors generated by A498 CYB5 D2 cells. In supporting AKT activation being a major mechanism promoting tumorigenesis, we observed that in comparison to A498 EV cells, A498 CYB5 D2 cells displayed a significant lower level of AKT phosphorylation at S473, indicative a reduction in AKT ac

关键词： NOD CYB5D2 is novel tumor suppressor for clear cell renal cell carcinoma cc RCC

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Associations of 6p21.3 Region with Age-related Macular Degeneration and Polypoidal Choroidal Vasculopathy

Associations of 6p21.3 Region with Age-related Macular Degen...

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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： Ye Zimeng Gong Bo Shuai Ping Yang Zhenglin Shi Yi Sichuan Provincial Key Laboratory for Human Disease Gene Study Sichuan Provincial People's Hospital

Objective Neovascular age-related macular degeneration(AMD) and polypoidal choroidal vasculopathy(PCV) are leading causes of visual loss and legal blindness among the elderly people in both Eastern and Western populations. It remains controversial as to whether PCV is a subtype of AMD or a separate disease entity. This study was conducted to investigate the associations of the CFBSKIV2 L-TNXB-FKBPL-NOTCH4 region with neovascular AMD and PCV, and to seek for genetic factors that may reveal different underlying pathogenic mechanisms between these two retinal disorders. Method A total number of 490 neovascular AMD patients, 419 PCV patients and 1316 normal matched controls were recruited. Six single nucleotide polymorphisms(SNPs) in the CFBSKIV2 L-TNXB-FKBPL-NOTCH4 region, including rs541862 in CFB(complement factor B), rs429608 in SKIV2 L(superkiller viralicidic activity 2-like), rs12153855 in TNXB(tenascin XB), rs9391734 in FKBPL(FK506 binding protein like), rs2071277 and rs3132946 in NOTCH4 were chosen. And two known AMD-associated SNPs, rs800292 in CFH(complementary factor H) and rs11200638 in HTRA1(high temperature required factor A1) were also included. The selected SNPs were genotyped in all study participants using SNa Pshot method(Applied Biosystems, ABI, Foster City, CA) and tested for associations with both neovascular AMD and PCV. Result The SKIV2 L variant rs429608, TNXB variant rs12153855 and FKBPL variant rs9391734 were significantly associated with neovascular AMD(P=2.2×10-4, OR=0.49;P=2.8×10-4, OR=1.80;P=0.001, OR=1.76, respectively). Furthermore, for rs429608 in AMD, statistically significant associations were detected under hetero(P= 0.002, OR= 0.54, 95%CI 0.37-0.79) and dominant(P=0.001, OR= 0.52, 95%CI 0.35-0.75) models, suggesting subjects carrying rs429608 AA and AG genotypes were less likely to suffer from neovascular AMD than those carrying GG. For rs12152855 and rs9391734 in AMD, significant associations were revealed under hetero(P=0.001, OR=

关键词： AMD PCV Associations of 6p21.3 Region with Age-related Macular Degeneration and Polypoidal Choroidal Vasculopathy

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CFTR Mutations in Chinese Patients with Cystic Fibrosis

CFTR Mutations in Chinese Patients with Cystic Fibrosis

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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 Yaping Liu Keqiang Tian Xinlun Yang Jun Li Xue Zhu Yuanjue Xu Kai-feng Zhang Xue State Key Laboratory of Medical Molecular Biology Institute of Basic Medical Sciences Chinese Academy of Medical Sciences and Peking Union Medical College Department of Respiratory Medicine Peking Union Medical College Hospital

Objective Cystic fibrosis（CF）, the most common life-threatening autosomal recessive disorder in Caucasians, is caused by mutations in the cystic fibrosis transmembrane conductance regulator（CFTR） gene. The most common CFTR mutations have been well established among Caucasian CF patients. In Chinese, we and others have previously identified CFTR mutations in 31 Chinese patients with CF. In this study, we aim to report some new CFTR mutations and also to summariz e the mutation spectrum of CFTR in Chinese patients with CF. Method In this study, ten Chinese patients with a clinical diagnosis of suspected CF were newly c ollected and screened for CFTR mutations using a combination of conventional Sanger sequenci ng and multiplex ligation-dependent probe amplification（MLPA） analysis. Previously reported CF TR mutations in Chinese CF patients were also summarized. Result We identified 13 different mutations in ten newly collected Chinese CF patients including f our novel mutations: c.3140-454.3367+259 delins, p.R10481123 del（△E20）;c.607 A>T, p.I203 F;c.325 T>G, p.Y109 D and c.3723 C>A, p.G1241 G. Once again, p.G970 D, the previously report ed most frequent mutation, was found in 4/10 patients;two of the patients are also homozygotes f or this mutation. Therefore, the most common CFTR mutation identified so far in totally 41 Chines e CF patients was still p.G970 D with a frequency of 18.3%（15/82）. The second frequent mutation in Chinese CF patients was c.1766+5 G>T, p.D529 Sfs*7（△E12） with a frequency of 8.5%（7/82）. However, p.F508 del, the most common mutation in Caucasian CF patients, was only seen once i n Chinese CF patients. Furthermore, we noticed that all the mutations identified in Chinese CF pa tients are rare in Caucasian CF patients. Conclusion Firstly, CF in China might not be as rare as we thought before. Secondly, p.F508 del, the most common mutation in Caucasian patients with CF, was seen in Chinese CF patients, although it is pretty rare. Thirdly, the most

关键词： CFTR Mutations in Chinese Patients with Cystic Fibrosis

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Gross deletion of different domains of Fibrillin-1 result in variable phenotype of Marfan syndrome

Gross deletion of different domains of Fibrillin-1 result in...

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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 Jiacheng Lu Chaoxia Yang Kunqi Lei Xinxing Zhang Ying Zhang Sue McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular Biology Institute of Basic Medical Sciences Chinese Academy of Medical Sciences and Peking Union Medical College Department of Cardiology State Key Laboratory of Cardiovascular Disease Fuwai Hospital National Center for Cardiovascular Disease Chinese Academy of Medical Sciences and Peking Union Medical College

Objective Marfan syndrome is mostly caused by mutations in FBN1, a large gene spanning 00 kb of genomic DNA on chromosome 15 q21. So far, more than 1800 different FBN1 mutations have been identified, accounting for 60–90% of all Marfan syndrome cases, the vast majority being single nucleotide exchanges as well as small del etions and insertions. Only 3% large rearrangements have been described in the ***: To investigate the large genomic rearrangements of FBN1 in MFS patients, and discuss the g enotype-phenotype correlations. Method In total, systematic sequencing of the FBN1 gene was previously performed in 21 unrelat ed individuals with MFS or related phenotypes, no small mutations were found. After that, multiplex ligation-dependent probe amplification（MLPA） w ere used for detection copy number variations in these patients. To elucidate the molecular mech anism underlying large rearrangement in the FBN1 gene, real-time quantification PCR and gap P CR were applied to determine the breakpoints within FBN1. Result We identified four FBN1 gross deletions（exon6, exons48-53,exons49-50 and exons1-36 deletion） in 21 patients with MFS. Three deletions（exon6,exons48-53 and exons49-50 deletions） were predicted to be in-frame deletion, and the last one（exons1-36 deletion） may result in deletio n one copy of the FBN1 gene. Through real-time quantification PCR and gap PCR, the breakpoint s of 4 deletions were cloned. Subsequent sequencing of the junctional, fragments revealed the de letion sizes of 16,551 bp, 10,346 bp, 4,563 bp and 187,067 bp respectively. Through analysis of the level of transcription in patients‘ RNA sample available, exons 48-53 and exons 49-50 deletions w ere confirmed to be in-frame deletion, which resulted in one or several cb EGF and/or TB domain of fibrillin-1 removed. Clinical features between three patients with in-frame deletions and the pati ent with hemizygous deletion FBN1 deletion were different. Conclusion Our findings highlig

关键词： MFS Gross deletion of different domains of Fibrillin-1 result in variable phenotype of Marfan syndrome

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Association study of Ankylosing Spondylitis and interaction between ERAP1 and ERAP2 gene in Han Chinese population

Association study of Ankylosing Spondylitis and interaction ...

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： Zheng Xuqi Li Qiuxia Wei Qiujing Wu Xinyu Gu Jieruo the Third Affiliated Hospital of Sun Yat-sen University

Objective Ankylosing Spondylitis（AS） is the prototype of spondyloarthritis and a highly heritable d isease. In all non-MHC susceptibility loci that have been reported, Endoplasmic Reticulum Amino peptidase 1（ERAP1） and Endoplasmic Reticulum Aminopeptidase（ERAP2） are one of those mo st functionally relevant susceptibility genes of AS which are involved in the process of antigen pre sentation. We aim to study the association between ERAP1 as well as ERAP2 and AS susceptibility in Chinese, especially coding variants, and to further investigate if there is a gene-gene interac tion between ERAP1 and ERAP2. Method 1837 Chinese AS patients fulfilling the 1984 Modified New York criteria and 4231 healthy controls were included after data quality control. All 8 genotyped single nucleotide polymorphism s（SNPs） in ERAP1 and 6 genotyped SNPs in ERAP2 were analyzed. Logistic regression analysi s is implemented in Plink（v1.07） using top 5 Principal Components from PCA as covariates. Linka ge Disequilibrium（LD） analysis and interaction analysis is perform in Haploview software and R s oftware（3.1.1）, respectively. Result（1）SNP rs42398, rs10050860（OR=0.72,P=2.5 E-3）, rs30187（OR=0.87,P=6.7 E-4）, rs27434 in ERAP1 are associated with AS. SNP rs10050860（MAF=0.043） has low frequency in Chinese while it is quite common in Caucasian（MAF=0.23 in 1000 Genome Project）, but showing the prot ective effect consistently. SNP rs4869315 is the only associated SNP in ERAP2 with AS, with the OR=0.89 and P value=0.007.（2） The pairwise LD plot through ERAP1 and ERAP2 region shows that rs42398, rs30187 and rs27434 are in high LD（D‘=0.99 and R2>0.9）, which indicates they are representing a the same signal. SNP rs10050860, rs4869315 are independent with the other ass ociated SNPs. For functional relevance, rs30187 and rs10050860 are coding variants as well as r elated with motif changing according to Haplo Reg tool, which are taken into subsequent analysis.（3）Gene-gene interaction analysis shows that rs30

关键词： Association study of Ankylosing Spondylitis and interaction between ERAP1 and ERAP2 gene in Han Chinese population

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