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single-nucleotide polymorphisms of HLA and Polygonum multiflorum-induced liver injury in the Han Chinese population

World Journal of Gastroenterology 2020年第12期26卷 1329-1339页

作者： Wan-Na Yang Li-Li Pang Ji-Yuan Zhou Yuan-Wang Qiu Liang Miao Shou-Yun Wang Xiang-Zhong Liu Kang-An Tan Wan-Wan Shi Gui-Qiang Wang Feng-Qin Hou Department of Infectious Diseases Peking University First HospitalBeijing 100034China Department of Gastroenterology and Hematology AEROSPACE 731 HospitalBeijing 100074China Department of Gastroenterology the Second Affiliated Hospital of Guangzhou Medical UniversityGuangzhou 510260Guangdong ProvinceChina Department of Liver Diseases the Wuxi Fifth Affiliated Hospital of Jiangnan UniversityWuxi 214011Jiangsu ProvinceChina Department of Liver Diseases the Third Hospital of QinhuangdaoQinhuangdao 066001Hebei ProvinceChina Department of Liver Diseases Yantai City Hospital for Infectious DiseasesYantai 264001Shandong ProvinceChina Department of Infectious Diseases Peking University International HospitalBeijing 102206China Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases Hangzhou 310003Zhejiang ProvinceChina

BACKGROUND Polygonum multiflorum is one of the leading causes of herb-induced liver injury in China.HLA-B*35:01 is reported to be a potential biomarker of Polygonum multiflorum-induced liver injury(PM-DILI).However,little is known about the relationship between single-nucleotide polymorphisms(SNPs) and PM-DILI.AIM To identify SNPs that indicate susceptibility to PM-DILI METHODS We conducted a systematic study enrolling 382 participants from four independent hospitals,including 73 PM-DILI patients,118 patients with other drug-induced liver injury(other-DILI) and 191 healthy controls.Whole-exome sequencing was performed for 8 PM-DILI patients and 8 healthy controls who were randomly selected from the above subjects.Nineteen SNPs that showed high frequencies in the 8 PM-DILI patients were selected as candidate SNPs and then screened in 65 PM-DILI patients,118 other-DILI patients and 183 healthy controls using the MassARRAY system.HLA-B high-resolution genotyping was performed for the 73 PM-DILI and 118 other-DILI patients.The Han-MHC database was selected as a population control for HLA-B analysis.P <6.25 x 103 after Bolferroni correction was considered significant.RESULTS The frequencies of rslll686806 in the HLA-A gene,rs1055348 in the HLA-B gene,and rs202047044 in the HLA-DRB1 gene were significantly higher in the PM-DILI group than in the control group [27.2% vs 11.6%,P=1.72×105,odds ratio(OR)=3.96,95% confidence interval(Cl):2.21-7.14;42.5% vs 8.6%,P=1.72×10-19 OR=13.62,95% CI:7.16-25.9;22.9% vs 8.1%,P=4.64×106,OR=4.1,95% CI:2.25-7.47].Only rs1055348 showed a significantly higher frequency in the PM-DILI group than in the other-DILI group(42.5% vs 13.6%,P=1.84×10-10,OR=10.06,95% Cl:5.06-20.0),which suggested that it is a specific risk factor for PM-DILI.rs1055348 may become a tag for HLA-B*35:01 with 100% sensitivity and 97.7% specificity in the PM-DILI group and 100% sensitivity and 98.1% specificity in the other-DILI group.Furthermore,HLA-B*35:01 was confirmed to be associated with PM-DILI with a frequency of

关键词： Drug-induced liver injury Polygonum multiflorum single-nucleotide polymorphism rs111686806 rs1055348 rs202047044 HLA-B*35:01

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Fibroblast growth factor receptor 4 single nucleotide polymorphism Gly388Arg in head and neck carcinomas

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World Journal of Clinical Oncology 2019年第3期10卷 136-148页

作者： Eva Wimmer Stephan Ihrler Olivier Gires Sylvia Streit Wolfgang Issing Christoph Bergmann Department of Otorhinolaryngology Ludwig-Maximilians-University Institute of Pathology Ludwig-Maximilians-University Clinical Cooperation Group Personalized Radiotherapy of Head and Neck Tumors Department of Molecular Biology Max-Planck-Institute for Biochemistry ENT Department Freeman Hospital Department of Otorhinolaryngology University of Duisburg-Essen

BACKGROUND Head and neck squamous cell carcinoma(HNSCC) is considered to be a progressive disease resulting from alterations in multiple genes regulating cell proliferation and differentiation like receptor tyrosine kinases(RTKs) and members of the fibroblast growth factor receptors(FGFR)-family. singlenucleotide polymorphism(SNP) Arg388 of the FGFR4 is associated with a reduced overall survival in patients with cancers of various types. We speculate that FGFR4 expression and SNP is associated with worse survival in patients with HSNCC.AIM To investigate the potential clinical significance of FGFR4 Arg388 in the context of tumors arising in HNSCC, a comprehensive analysis of FGFR4 receptor expression and genotype in tumor tissues and correlated results with patients' clinical data in a large cohort of patients with HNSCC was conducted.METHODS Surgical specimens from 284 patients with HNSCC were retrieved from the Institute of Pathology at the Ludwig-Maximilian-University in Germany.Specimens were analyzed using immunohistochemistry and polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP). The expression of FGFR4 was analyzed in 284 surgical specimens of HNSCC using immunohistochemstry. FGFR4 polymorphism was detected by PCR-RFLP.Patients' clinical data with a minimum follow-up of 5 years were statistically evaluated with a special emphasis on survival analysis employing Kaplan-Meier estimator and Cox regression analysis.RESULTS Concerning the invasive tumor areas the intensity of the FGFR4 expression was evaluated in a four-grade system: no expression, low expression, intermediate and high expression. FGFR4 expression was scored as "high"(+++) in 74(26%),"intermediate"(++) in 103(36.3%), and "low"(+) in 107(36.7%) cases. Analyzing the FGFR4 mutation it was found in 96 tumors(33.8%), 84 of them(29.6%) having a heterozygous and 12(4.2%) homozygous mutated Arg388 allele. The overall frequency concerning the mutant alleles demonstrated 65% vs 34% mutated alleles in general. FGFR4 Arg388 was si

关键词： Fibroblast growth factor receptor 4 single-nucleotide polymorphism Head and neck squamous cell carcinoma Reduced survival Cancer progression Polymerase chain reaction Immunohistochemistry Outcome

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The association of stromal antigen 3(STAG3) sequence variations with spermatogenic impairment in the male Korean population

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Asian Journal of Andrology 2020年第1期22卷 106-111页

作者： Yeojung Nam Kyung Min Kang Se Ra Sung Ji Eun Park Yun-Jeong Shin Seung Hun Song Ju Tae Seo Tae Ki Yoon Sung Han Shim Department of Biomedical Science College of Life ScienceCHA UniversitySeongnam 13488Korea Genetics Laboratory Fertility Center of CHA Gangnam Medical CenterCHA UniversitySeoul 06135Korea Department of Urology CHA Gangnam Medical CenterCHA UniversitySeoul 06135Korea Department of Urology Cheil General HospitalSeoul 04619Korea Department of Obstetrics and Gynecology CHA Gangnam Medical CenterSeoul 04637Korea

The stromal antigen 3(STAG3)gene,encoding a meiosis-specific cohesin component,is a strong candidate for causing male infertility,but little is known about this gene so far.We identified STAG3 in patients with nonobstructive azoospermia(NOA)and normozoospermia in the Korean population.The coding regions and their intron boundaries of STAG3 were identified in 120 Korean men with spermatogenic impairments and 245 normal controls by using direct sequencing and haplotype analysis.A total of 30 sequence variations were identified in this study.Of the total,seven were exonic variants,18 were intronic variants,one was in the 5’-UTR,and four were in the 3'-UTR.Pathogenic variations that directly caused NOA were not identified.However,two variants,c.3669+35C>G(rs1727130)and+198A>T(rs1052482),showed significant differences in the frequency between the patient and control groups(P=0.021,odds ratio[OR]:1.79,95%confidence interval[Cl]:1.098-2.918)and were tightly linked in the linkage disequilibrium(LD)block.When pmir-rs1052482A was cotransfected with miR-3162-5p,there was a substantial decrease in luciferase activity,compared with pmir-rs1052482T.This result suggests that rsl052482 was located within a binding site of miR-3162-5p in the STAG33'-UTR,and the minor allele,the rs1052482T polymorphism,might offset inhibition by miR-3162-5p.We are the first to identify a total of 30 single-nucleotide variations(SNVs)of STAG3 gene in the Korean population.We found that two SNVs(rs1727130 and rsl052482)located in the 3'-UTR region may be associated with the NOA phenotype.Our findings contribute to understanding male infertility with spermatogenic impairment.

关键词： linkage disequilibrium meiotic-specific gene single-nucleotide variations spermatogenic impairment stromal antigen 3 gene

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Differences in brain-derived neurotrophic factor gene polymorphisms between acute ischemic stroke patients and healthy controls in the Han population of southwest China

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Neural Regeneration Research 2019年第8期14卷 1404-1411页

作者： Jie Zhou Meng-Meng Ma Jing-Huan Fang Lei Zhao Mu-Ke Zhou Jian Guo Li He Department of Neurology West China Hospital Sichuan University

single-nucleotide polymorphisms in the brain-derived neurotrophic factor gene may affect the secretion and function of brain-derived neurotrophic factor, thereby affecting the occurrence, severity and prognosis of ischemic stroke. This case-control study included 778 patients (475 males and 303 females, mean age of 64.0 ± 12.6 years) in the acute phase of ischemic stroke and 865 control subjects (438 males and 427 females, mean age of 51.7 ± 14.7 years) from the Department of Neurology, Wes: China Hospital, Sichuan University, China between September 2011 and December 2014. The patients' severities of neurological defici:s in the acute phase were assessed using the National Institutes of Health Stroke Scale immediately after admission to hospital. The ischemic stroke patients were divided into different subtypes according to the Trial of Org 10172 in Acute Stroke Treatment classification. Early prognosis was evaluated using the Modified Rankin Scale when the patients were discharged. Genomic DNA was extracted from peripheral blood of participants. Genotyping of rs7124442 and rs6265 was performed using Kompetitive Allele Specific polymerase chain reaction genotyping technology. Our results demonstrated that patients who carried the C allele of the rs7124442 locus had a lower risk of poor prognosis than the T allele carriers (odds ratio [OR]= 0.67;95% confidence interval [CI]: 0.45-1.00;P = 0.048). The patients with the CC or TC genotype also exhibited lower risk than TT carriers (OR = 0.65;95% CI: 0.42-1.00;P = 0.049). The AA genotype at the rs6265 locus was associated with the occurrence of ischemic stroke in patients with large-artery atherosclerosis (OR = 0.5& 95% CI: 0.37-0.90;P = 0.015). We found that the C allele (CC and TC genotypes) at the rs7124442 locus may be protective for the prognosis of ischemic stroke. The AA genotype at the rs6265 locus is likely a protective factor against the occurrence of ischemic stroke in patients with large-artery atherosclerosis. The study protocol was approved by the Ethic

关键词： nerve regeneration ischemic stroke brain-derived neurotrophic factor single-nucleotide polymorphism risk stroke severity prognosis rs6265 rs7124442 neural regeneration

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Association between PPARG genetic polymorphisms and ischemic stroke risk in a northern Chinese Han population: a case-control study

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Neural Regeneration Research 2019年第11期14卷 1986-1993页

作者： Yan-Zhe Wang He-Yu Zhang Fang Liu Lei Li Shu-Min Deng Zhi-Yi He Department of Neurology the First Hospital of China Medical University

Two common polymorphisms of the peroxisome proliferator-activated receptor gamma(PPARG) gene, rs1801282 and rs3856806, may be important candidate gene loci affecting the susceptibility to ischemic stroke. This case-control study sought to identify the relationship between these two single-nucleotide polymorphisms and ischemic stroke risk in a northern Chinese Han population. A total of 910 ischemic stroke participants were recruited from the First Hospital of China Medical University, Shenyang, China as a case group, of whom 895 completed the study. The 883 healthy controls were recruited from the Health Check Center of the First Hospital of China Medical University, Shenyang, China. All participants or family members provided informed consent. The study protocol was approved by the Ethics Committee of the First Hospital of China Medical University, China on February 20, 2012(approval No. 2012-38-1). The protocol was registered with the Chinese Clinical Trial Registry(registration number: ChiCTR-COC-17013559). Plasma genomic DNA was extracted from all participants and analyzed for rs1801282 and rs3856806 single nucleotide polymorphisms using a SNaPshot Multiplex sequencing assay. Odds ratios(ORs) and 95% confidence intervals(CIs) were calculated using unconditional logistic regression to estimate the association between ischemic stroke and a particular genotype. Results demonstrated that the G allele frequency of the PPARG gene rs1801282 locus was significantly higher in the case group than in the control group(P < 0.001). Individuals carrying the G allele had a 1.844 fold increased risk of ischemic stroke(OR = 1.844, 95% CI: 1.286–2.645, P < 0.001). Individuals carrying the rs3856806 T allele had a 1.366 fold increased risk of ischemic stroke(OR = 1.366, 95% CI: 1.077–1.733, P = 0.010). The distribution frequencies of the PPARG gene haplotypes rs1801282-rs3856806 in the control and case groups were determined. The frequency of distribution in the G-T haplotype case group was significantly higher than that in the

关键词： nerve regeneration stroke cerebral ischemia ischemic stroke peroxisome proliferator-activated receptor γ single-nucleotide polymorphism haplotype analysis interaction case-control study Chinese Han population neural regeneration

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Association of GTF2IRD1–GTF2I polymorphisms with neuromyelitis optica spectrum disorders in Han Chinese patients

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Neural Regeneration Research 2019年第2期14卷 346-353页

作者： Jing-Lu Xie Ju Liu Zhi-Yun Lian Hong-Xi Chen Zi-Yan Shi Qin Zhang Hui-Ru Feng Qin Du Xiao-Hui Miao Hong-Yu Zhou Department of Neurology West China Hospital Sichuan University

Variants at the GTF2I repeat domain containing 1(GTF2IRD1)–GTF2I locus are associated with primary Sj?gren's syndrome, systemic lupus erythematosus, and rheumatoid arthritis. Numerous studies have indicated that this susceptibility locus is shared by multiple autoimmune diseases. However, until now there were no studies of the correlation between GTF2IRD1–GTF2I polymorphisms and neuromyelitis optica spectrum disorders(NMOSD). This case control study assessed this association by recruiting 305 participants with neuromyelitis optica spectrum disorders and 487 healthy controls at the Department of Neurology, from September 2014 to April 2017. Peripheral blood was collected, DNA extracteds and the genetic association between GTF2IRD1–GTF2I polymorphisms and neuromyelitis optica spectrum disorders in the Chinese Han population was analyzed by genotyping. We found that the T allele of rs117026326 was associated with an increased risk of neuromyelitis optica spectrum disorders(odds ratio(OR) = 1.364, 95% confidence interval(CI) 1.019–1.828; P = 0.037). This association persisted after stratification analysis for aquaporin-4 immunoglobulin G antibodies(AQP4-IgG) positivity(OR = 1.397, 95% CI 1.021–1.912; P = 0.036) and stratification according to coexisting autoimmune diseases(OR = 1.446, 95% CI 1.072–1.952; P = 0.015). Furthermore, the CC genotype of rs73366469 was frequent in AQP4-IgG-seropositive patients(OR = 3.15, 95% CI 1.183–8.393, P = 0.022). In conclusion, the T allele of rs117026326 was associated with susceptibility to neuromyelitis optica spectrum disorders, and the CC genotype of rs73366469 conferred susceptibility to AQP4-IgG-seropositivity in Han Chinese patients. The protocol was approved by the Ethics Committee of West China Hospital of Sichuan University, China(approval number: 2016-31) on March 2, 2016.

关键词： nerve regeneration neuromyelitis optica spectrum disorders GTF2I GTF2IRD1 single-nucleotide polymorphism autoimmune diseases aquaporin-4 linkage disequilibrium haplotype neural regeneration

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Relationship between Modulator Recognition Factor 2/AT-rich Interaction Domain 5B Gene Variations and Type 2 Diabetes Mellitus or Lipid Metabolism in a Northern Chinese Population

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Chinese Medical Journal 2017年第9期130卷 1055-1061页

作者： Lu-Lu Sun Si-Jia Zhang Mei-Jun Chen Kazakova Elena Hong Qiao Department of Endocrinology The Second Affiliated Hospital of Harbin Medical University Harbin Heilongjiang 150000 China

Background： Four single nucleotide polymorphisms （SNPs） in the modulator recognition factor 2/AT-rich interaction domain 5B （MRF2/ARID5B） gene located at chromosome 10q21,2 have been shown to be associated with both type 2 diabetes mellitus （T2DM） and coronary artery disease in a Japanese cohort. This study aimed to investigate the relationship between these SNPs （rs2893880, rs10740055, rs7087507, rs10761600） and new-onset T2DM and lipid metabolism in a Northern Chinese population. Methods： This was a case-control study. The rs2893880, rs10740055, rs7087507, and rs10761600 genetic variants were genotyped by SNPscan and analyzed in relation to T2DM susceptibility in 2000 individuals （090 with newly diagnosed T2DM and 1001 controls without diabetes mellitus）. Associations between the MRF2/ARID5B genetic models and T2DM were determined by multivariate logistic regression. Results： Regarding the rs 10740055 SNP, AA was associated with a higher risk of T2DM compared with codominant-type CC （adjusted by sex, age, and body mass index [BMI], P = 0.041, odds ratio [OR] = 1.421, 95% confidence interval [C1 ] 1.014-1.991）. Meanwhile, AA individuals were at increased risk of presenting with T2DM compared with individuals with CC or a single C （adjusted by sex, age, and BMI, P = 0.034, OR = 1.366, 95% CI 1.023-1.824）. With respect to rsl0761600, AT contributed to a higher risk of T2DM compared with AA （adjusted by sex, age, and BMI, P = 0.013, OR = 1.585, 95% CI 1.101-2.282）, while TT also increased the risk of presenting with T2DM compared with AA or A （adjusted by sex, age, and BMI, P = 0.004, OR = 1.632, 95% CI 1.166-2.284）. High-density lipoprotein cholesterol （HDL-C） levels were significantly different among the three genotypes of rs7087507 in the controls （P = 0.048）（GG〉GA）. Conclusions： The present results identified MRF2/AR1D5B as a potential susceptibility gene for new-onset T2DM in a Northern Chinese population, while the rs7087507 SNP was associated with HDL-C levels. Further larger studies are required to validat

关键词： Diabetes Mellitus Type 2 Lipid Metabolism Polymorphism single-nucleotide

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The impact of GJA3 SNPs on susceptibility to age-related cataract

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International Journal of Ophthalmology(English edition) 2019年第6期12卷 1008-1011页

作者： Xia-Jing Tang Xing-Chao Shentu Ye-Lei Tang Xi-Yuan Ping Xiao-Ning Yu Eye Center of the Second Affiliated Hospital School of MedicineZhejiang UniversityHangzhou 310009Zhejiang ProvinceChina Zhejiang Provincial Key Lab of Ophthalmology Hangzhou 310009Zhejiang ProvinceChina The Second Affiliated Hospital School of MedicineZhejiang UniversityHangzhou 310009Zhejiang ProvinceChina

AIM: To determine the association of gap junction protein alpha 3(GJA3) gene tag single-nucleotide polymorphisms(SNPs) with susceptibility to age-related cataract(ARC).METHODS: In total, 486 ARC patients were matched with 500 healthy controls. All the participants underwent complete ophthalmic examinations. Haplotype-tagging SNPs of GJA3 gene were selected from the HapMap Beijing Han Chinese population. Genomic DNA was extracted from the peripheral blood leukocytes of all the subjects.Under three different genetic models: dominant, recessive,and additive, the association between SNPs and ARC was examined. After adjusting for age and sex, the genetic effects of the GJA3 SNPs were evaluated with logistic regression analysis.RESULTS: Four tag GJA3 SNPs(rs6490519, rs9506430,rs9509053, and rs9552089) were included in the present study. None of the SNPs showed a significant relationship with an altered risk of total ARC under the dominant,recessive, or additive models. In the subgroup analysis,rs9506430 had a significant effect on the formation of a posterior subcapsular cataract(P=0.002, OR: 0.227, 95%CI:0.088-0.590) under the recessive model.CONCLUSION: Our study indicates that GJA3 variants may influence the development of posterior subcapsular cataracts. Further studies need to be designed to confirm this possibility.

关键词： gap junction protein alpha 3 single-nucleotide polymorphisms age-related cataract

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Interleukin-22 receptor 1 is expressed in multinucleated giant cells:A study on intestinal tuberculosis and Crohn’s disease

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World Journal of Gastroenterology 2019年第20期25卷 2473-2488页

作者： Zi-Qi Yu Wen-Fei Wang You-Chao Dai Xin-Chun Chen Jian-Yong Chen Department of Gastroenterology and Hepatology Jiangxi Provincial People’s HospitalNanchang 330006Jiangxi ProvinceChina Jiangxi Medical College Nanchang UniversityNanchang 330006Jiangxi ProvinceChina Department of Microbiology and Immunology Shenzhen University Health Science CenterShenzhen 518000Guangdong ProvinceChina Department of Pharmaceutical/Medicinal Chemistry Institute of PharmacyFriedrich Schiller UniversityJena 07743Germany

BACKGROUND It is challenging to distinguish intestinal tuberculosis from Crohn’s disease due to dynamic changes in epidemiology and similar clinical characteristics. Recent studies have shown that polymorphisms in genes involved in the interleukin (IL)- 23/IL-17 axis may affect intestinal mucosal immunity by affecting the differentiation of Th17 cells. AIM To investigate the specific single-nucleotide polymorphisms (SNPs) in genes involved in the IL-23/IL-17 axis and possible pathways that affect susceptibility to intestinal tuberculosis and Crohn's disease. METHODS We analysed 133 patients with intestinal tuberculosis, 128 with Crohn’s disease, and 500 normal controls. DNA was extracted from paraffin-embedded specimens or whole blood. Four SNPs in the IL23/Th17 axis (IL22 rs2227473, IL1β rs1143627, TGFβ rs4803455, and IL17 rs8193036) were genotyped with TaqMan assays. The transcriptional activity levels of different genotypes of rs2227473 were detected by dual luciferase reporter gene assay. The expression of IL-22R1 in different intestinal diseases was detected by immunohistochemistry. RESULTS The A allele frequency of rs2227473 (P = 0.030, odds ratio = 0.60, 95% confidence interval: 0.37-0.95) showed an abnormal distribution between intestinal tuberculosis and healthy controls. The presence of the A allele was associated with a higher IL-22 transcriptional activity (P < 0.05). In addition, IL-22R1 was expressed in intestinal lymphoid tissues, especially under conditions of intestinal tuberculosis, and highly expressed in macrophage-derived Langhans giant cells. The results of immunohistochemistry showed that the expression of IL-22R1 in patients with Crohn's disease and intestinal tuberculosis was significantly higher than that in patients with intestinal polyps and colon cancer (P < 0.01). CONCLUSION High IL-22 expression seems to be a protective factor for intestinal tuberculosis. IL-22R1 is expressed in Langhans giant cells, suggesting that the IL-22/IL-22R1 system links adaptive and innate immunity.

关键词： Crohn's disease Intestinal tuberculosis single-nucleotide polymorphism Interleukin-22 Interleukin-22 receptor 1 Multinucleated giant cells

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Functional promoter rs189037 variant of ATM is associated with decrease in lung diffusing capacity after irradiation for nonesmall-cell lung cancer

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Chronic Diseases and Translational Medicine 2018年第1期4卷 59-66页

作者： Jose Luis Lopez Guerra Yi-Peng Song Quynh-Nhu Nguyen Daniel R. Gomez Zhongxing Liao Ting Xu Department of Radiation Oncology The University of Texas MD Anderson Cancer CenterHoustonTX 77030USA Department of Radiation Oncology Virgen del Rocío University HospitalSeville 41013Spain Department of Radiation Oncology Affiliated Yantai Yuhuangding Hospital of Qingdao UniversityYantaiShandong 264000China

Objective: single-nucleotide polymorphisms (SNPs) in the ataxia telangiectasiaemutated gene ATM have been linked with pneumonitis after radiotherapy for lung cancer but have not been evaluated in terms of pulmonary function impairment. Here we investigated potential associations between SNPs in ATM and changes in diffusing capacity of the lung for carbon monoxide (DLCO) in patients with nonesmall-cell lung cancer (NSCLC) after radiotherapy. Methods: From November 1998 through June 2009, 448 consecutive patients with inoperable primary NSCLC underwent definitive (≥60 Gy) radiotherapy, with or without chemotherapy. After excluding patients with a history of thoracic surgery, ra-diation, or lung cancer; without DNA samples available for analysis; or without pulmonary function testing within the 12 months before and the 12 months after radiotherapy, 100 patients were identified who are the subjects of this study. We genotyped two SNPs of ATM previously found to be associated with radiation-induced pneumonitis (rs189037 and rs228590) and evaluated potential correlations between these SNPs and impairment (decreases) in DLCO by using logistic regression analysis. Results: Univariate and multivariate analyses showed that the AA genotype of ATM rs189037 was associated with decreased DLCO after definitive radiotherapy than the GG/AG genotypes (univariate coefficient, -0.122; 95％ confidence interval (CI),-0.236 to -0.008; P = 0.037; and multivariate coefficient, -0.102; 95％ CI, -0.198 to -0.005; P = 0.038)No such correlations were found for rs228590 (univariate coefficient, -0.096; 95％ CI, -0.208 to 0.017; P = 0.096). Conclusions: The AA genotype of ATM rs189037 was associated with higher risk of lung injury than were the GG/AG genotypes in patients with NSCLC treated with radiotherapy. This finding should be validated prospectively with other patient populations.

关键词： Nonesmall-cell lung cancer Radiation therapy Ataxia telangiectasia-mutated gene single-nucleotide polymorphisms

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