XPD Lys751Gln基因多态性与非霍奇金淋巴瘤化疗后生存期及白细胞抑制的关系

[目的]探讨核苷酸切除修复基因XPD Lys751Gln基因多态性与非霍奇金淋巴瘤(NHL)化疗后疗效﹑2年生存期及化疗相关的白细胞抑制程度的相关性。[方法]在广西人群中,收集87例NHL患者的外周血样本,采用聚合酶链反应—限制性片段长度多态技术检测XPD Lys751Gln位点的基因多态性,并应用非条件Logistic回归法进行数据分析,分析各基因型与NHL化疗后疗效﹑生存期及化疗相关白细胞抑制程度的相关性。[结果]XPD Lys751Gln(T>G)多态性位点在87例NHL病例中,TT基因型的频率为81.6%(71例),TG基因型为18.4%(16例),未发现GG基因型。XPD Lys751Gln的TT基因型及TG基因型的频率在NHL患者化疗有效病例组与无效组之间,总生存期≥2年病例组与<2年组之间及NHL患者化疗相关白细胞抑制不同程度分组间的分布均没有统计学差异(均为P>0.05)。[结论]在中国广西的人群中,XPD基因的Lys751Gln多态性与NHL患者化疗后疗效、2年生存期及化疗后相关白细胞抑制程度均无显著性关联。     

IL-10 基因-1082A ＞G位点多态性与非霍奇金淋巴瘤易感性的Meta分析

目的:用Meta分析法评价IL-10基因-1082A＞G位点的多态性与非霍奇金淋巴瘤(non-Hodgkin lymphoma,NHL)易感性的相关性.方法:利用计算机检索PubMed、EMBASE、Web of Science、中国生物医学文献数据库、中文科技期刊全文数据库、中国期刊全文数据库和万方数据库,检索日期自各数据库建库到2017年1月止,全面检索IL-10基因-1082A＞G位点的多态性与NHL易感性的病例对照研究文献,采用STATA 12.0统计软件进行Meta分析.结果:最终纳入16篇病例对照研究文献进行Meta分析,共计4 718例NHL患者和3 877例健康对照人员.分析结果显示,IL-10基因-1082A＞G位点在等位基因模型(A vs G∶OR=1.12,95％ CI=1.04～1.21)、共显性模型(AA vs AG:OR=1.27,95％ CI=1.06～1.52)、相加模型(AA vs GG:OR=1.22,95％ CI=1.06～1.40)和显性模型(AA vs AG+GG:OR=1.29,95％ CI=1.08～1.53)下与NHL易感性有关;而在隐性模型(GG vs AA+AG:OR=1.11,95％ CI=0.92～ 1.34)与NHL易感性无关.结论:IL-10基因-1082 A＞G位点多态性可能与NHL易感性相关.     

非小细胞肺癌RAD51、ERCC2和BAG-1基因多态性的表达

目的:研究DNA修复基因RAD51和着色性干皮病基因(ERCC2/XPD)以及Bcl-2结合抗凋亡基因1(Bcl-2 associated athanogene 1,BAG-1)基因多态性与非小细胞肺癌(non-small cell lung cancer,NSCLC)遗传易感性的关系。方法:采用病例对照研究设计,选取100例非小细胞肺癌病例和80例正常对照。以ERCC2/XPD Lys751Gln和RAD51 codon 135以及BAG-1codon 324基因多态性为研究位点,聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对多态性进行检测。应用Logistic回归计算OR值及95%CI,比较不同基因型与NSCLC发病风险的关系。结果:ERCC2/XPD 751基因型在病例组的分布频率为C/C型69例(69%)、C/A型26例(30%)和A/A型5例(5%)。与野生基因型C/C型相比,携带ERCC2/XPD C/A基因型和A/A基因型者患NSCLC的危险度比值比(odds ratio,OR)分别是1.53(95%CI:1.15-3.32)和0.58(95%CI:0.15-2.39)。BAG-1 codon 324基因型的分布频率为C/C型81%(81/100)、C/T型19%(19/100)以及T/T型0%(0例)。与野生基因型C/C型相比,携带BAG-1 C/T基因型者患NSCLC的OR是1.28(95%CI:1.08-2.74)。RAD51 codon 135基因型的分布频率为G/G型67%(67/100)、G/C型33%(33/100)、未现C/C型。与野生基因型G/G型相比,RAD51 G/C基因型者患NSCLC的OR是1.03(95%CI:1.06-2.29)。分析结果提示吸烟、环境危险因素与XPD Lys751Gln基因多态存在交互作用,交互效应OR值分别为2.24(95%CI:1.18-2.87)和2.53(95%CI:1.71-3.46),携带XPD Ly s751Gln突变基因者若同时暴露于吸烟、环境危险因素下,则患NSCLC的危险显著增加,相较未暴露于上述因素者,OR值均增大。结论:BAG-1和ERCC2/XPD以及RAD51基因多态性可能与当地居民NSCLC遗传易感性有关,ERCC2/XPD与吸烟、饮酒、环境危险因素存在交互作用。     

肿瘤坏死因子基因多态性与湖北汉族人群非霍奇金淋巴瘤发病的相关性

目的:研究我国湖北汉族人群TNF的基因多态性与非霍奇金淋巴瘤(NHL)发病的关系。方法:采用病例对照研究和聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测160例NHL患者和214例健康对照者中TNFα-308、LTα-252基因型分布。结果:NHL组与健康对照组TNFα-308基因型、等位基因频率总体分布差异无统计学意义(P均>0.05);NHL组与健康对照组相比LTα-252 AA基因型频率相比明显减低,差异有统计学意义(19%比29%,χ2=4.513,P=0.034,OR=1.697,95%CI:1.039-2.773),而LTα-252 GG、AG基因型及等位基因频率总体分布差异无统计学意义(P均>0.05);TNFα-308、LTα-252基因型与NHL患者的病理类型、临床分期及进展无明显相关性(P均>0.05)。结论:LTα-252位点基因型与湖北汉族人群NHL发病有相关性。     

DNA修复基因XRCC1单核苷酸多态性与非霍奇金淋巴瘤遗传易感性的关系

 目的　探讨DNA修复基因XRCC1 R280H、XRCC1 TSS+29C／T单核苷酸多态性与非霍奇金淋巴瘤（NHL）易感性的关系。方法　运用MassARRAY技术对73例NHL病例和540名健康对照的DNA修复基因XRCC1多态性进行检测,比较其不同基因型与淋巴瘤患病风险的关系。结果　XRCC1 R280H中G、A基因频率在对照组和病例组中分布差异有统计学意义（P＝0.001）,而XRCC1 TSS+29C／T中T、C的基因频率在两组中的分布差异无统计学意义 （P＝0.383）。进一步的分析表明,在XRCC1 R280H中,与携带GG野生纯合子基因型者比较,携带至少一个A等位基因者（GA或AA）患淋巴瘤的风险显著降低（P＜0.001,OR＝0.309,95 % CI＝0.168～0.567）。而在XRCC1 TSS+29C／T中,CC和CT与基因TT比较,携带C基因者会增加淋巴瘤的发病风险（P＝0.472,OR＝1.262,95 % CI＝0.669～2.379）。结论　DNA修复基因XRCC1 R280H的基因多态性与NHL的发生密切相关。     

肿瘤坏死因子α-308基因多态性与非霍奇金淋巴瘤易感性的Meta分析

目的 探讨肿瘤坏死因子α(TNF-α)-308G＞A基因多态性与非霍奇金淋巴瘤(NHL)易感性的关系.方法 在PubMed、中国知网、万方数据知识服务平台等数据库,检索淋巴瘤(或lymphoma)和肿瘤坏死因子(tumor necrosis factor或TNF)、基因多态性(polymorphism或SNP或variant或mutation),获取相关文献,采用固定效应模型或随机效应模型进行数据合并统计.发表偏移的评估采用Begg漏斗图和Egger检验.结果 共纳入15篇文献,包含9 738例NHL患者和10 854例对照人群.对入选文献数据进行综合分析,纯合子基因模型(AA比GG:OR=1.55,95％CI 1.30 ～ 1.86,I2=42.4％)和隐性基因模型(AA比AG+GG:OR=1.53,95％CI 1.27～1.83,I2=41.8％)的统计结果显示,TNF-α-308 AA基因可能增加NHL的发病风险.按种族来源不同进行分层分析,结果表明A等位基因可增加高加索人群罹患NHL的风险(A比G、AA比GG、AG比GG、AA比AG+GG、AA+AG比GG),但可降低亚裔人群的发病风险(A比G、AG比GG、AA+AG比GG).结论 TNF-α-308 G＞A基因多态性与NHL的发病风险相关.     

白细胞介素-10启动子区基因多态性与非霍奇金淋巴瘤相关性的研究

目的：探讨中国汉族人群白细胞介素－10基因（IL－10）启动子区－1082G／A、－819T／C和－592A／C基因多态性与非霍奇金淋巴瘤（NHL）发病的关系。方法：采用聚合酶链－限制性片段长度多态技术检测512例NHL患者和500名健康对照者IL－10启动予区－1082、－819和－592位点的基因型。结果：NHL组IL－10—1082位点AA、GA、GG基因型频率分别为85．7％、14．3％和0,对照组分别为88．8％、11．2％和0,两组相比差异无统计学意义,P〉0．05。－819位点与～592位点基因型具有高度连锁,－819TT／－592AA、819TC／～592AC和－819CC／－592CC基因型在NHI,组分别为45．9％、41．2％和12．9％,对照组分别为48．8％、40．8％和10．4％,两组相比差异无统计学意义,P〉0．05。对NHL亚型分析显示,各位点基因型在弥漫性大B细胞淋巴瘤（DLBCL）和滤泡性淋巴瘤（FL）病例组中与对照组相比,差异均无统计学意义,P〉0．05。单体型分析发现,上述位点具有4种单体型ATA、ACC、GCC和GTA,各单体型在NHL及其各亚型组与对照组之间的分布差异无统计学意义,P〉0．05。结论：中国汉族人群中IL－10启动子区－1082、－819和－592位点基因多态性及其单体型分布与NHL发病无相关性。     

肿瘤坏死因子基因多态性与湖北汉族人群非霍奇金淋巴瘤发病的相关性

目的：研究我国湖北汉族人群TNF的基因多态性与非霍奇金淋巴瘤（NHL）发病的关系。方法：采用病例对照研究和聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测160例NHL患者和214例健康对照者中TNFα-308、LTα-252基因型分布。结果：NHL组与健康对照组TNFα-308基因型、等位基因频率总体分布差异无统计学意义（P均〉0.05）;NHL组与健康对照组相比LTα-252 AA基因型频率相比明显减低,差异有统计学意义（19%比29%,χ2=4.513,P=0.034,OR=1.697,95%CI：1.039-2.773）,而LTα-252 GG、AG基因型及等位基因频率总体分布差异无统计学意义（P均〉0.05）;TNFα-308、LTα-252基因型与NHL患者的病理类型、临床分期及进展无明显相关性（P均〉0.05）。结论：LTα-252位点基因型与湖北汉族人群NHL发病有相关性。     

DNA修复基因XPD 312 Asn和751Lys多态性与非吸烟女性肺癌的关系

目的 着色性干皮病互补基因D(xeroderma pigmentosum group D,XPD)是一种重要的DNA损伤修复基因,其常见的多态是位于751密码子的A→C颠换和312密码子G→A转换。本研究旨在探讨XPD基因751位点和312位点单核苷酸多态性与非吸烟女性肺癌易感性的关系。方法 采用病例-对照研究方法,纳入非吸烟女性肺癌患者222人和对照222人。以聚合酶链反应-限制性片段长度多态性方法分析XPD基因Lys751Gln和Asp312Asn多态基因型。结果 携带至少1个751Gln等位基因者和携带至少1个312Asn等位基因者患肺癌的风险均显著增高,调整OR分别为3.36(95%CI为2.29-4.90)和1.83(95%CI为1.16-2.91)。结论 XPD基因Lys751Gln和Asp312Asn多态是非吸烟女性肺癌的遗传易感因素。     

白介素-10基因多态性与湖北汉族人群非霍奇金淋巴瘤患者发病的相关性

目的:研究我国湖北汉族人群IL-10基因多态性与非霍奇金淋巴瘤（NHL）发病的关系。方法:采用病例对照研究和聚合酶链反应-限制性片段长度多态性( PCR- RFLP) 方法检测363例NHL患者和624例健康对照者中IL-10-592、IL-10-819和IL-10-1082基因型的分布。结果:NHL组与健康对照组相比两组的等位基因及IL-10-592、IL-10-819基因亚型的分布无显著差异（P均＞0.05）,但NHL患者IL-10-1082 GA基因型频率却显著高于对照组（15%比5%,P=0.000,OR=3.416,95%CI:2.154-5.418）;而IL-10-592,IL-10-819和IL-10-1082的基因多态性与NHL患者的病理类型、临床分期及疾病进展之间没有关联（P均＞0.05）。结论:IL-10-1082位点基因型与湖北汉族人群NHL发病有相关性。     

p16基因C540G和C580T多态与高发区食管癌和贲门癌发病风险的关联

目的探讨p16基因第3外显子3’端非编码区C540G和C580T两个单核苷酸多态与河北省高发区食管鳞状细胞癌（ESCC）和贲门腺癌（GCA）遗传易感性的关系。方法采用聚合酶链反应-限制性片段长度多态性（PCR—RFLP）方法分析265例ESCC患者、238例CA;A患者和246名健康对照的p16基因C540G和C580T多态位点的基因型。结果p16基因C540G三种基因型（C／C、C／G、G／G）的频率分布在ESCC、GCA患者和对照组相比均无显著差异;p16基因C580T三种基因型（C／C、C／T、T／T）的频率在对照组和ESCC、GCA患者组间也无显著差异（P均〉0．05）。单体型分析显示,对照组540C／580C、540C／580T、540G／580C和540G／580T单体型的频率分别为80．1％、10．4％、8．5％和1．0％,ESCC组单体型频率（80．8％、9．6％、8．7％和0．9％）和GCA组的单体型频率（80．2％、9．2％、9．5％和1．1％）与之相比均无显著差异（P均〉0．05）。结论p16基因C540G和C580T多态可能与河北省高发区ES-CC和GCA的易感性无关。     

Reduced nucleotide excision repair and GSTM1-null genotypes influence anti-B[a]PDE-DNA adduct levels in mononuclear white blood cells of highly PAH-exposed coke oven workers

It is important to identify the potential genetic-susceptible factors that are able to modulate individual responses to exposure to carcinogenic polycyclic aromatic hydrocarbons (PAHs). In the present study we evaluated the influence of four polymorphisms of nucleotide excision repair (NER) genes [xeroderma pigmentosum-C (XPC)-PAT +/-, xeroderma pigmentosum-A (XPA) 5' non-coding region-A23G, XPD-exon 23 A35931C Lys751Gln, xeroderma pigmentosum-D (XPD)-exon 10 G23591A Asp312Asn] and that of glutathione S-transferase mu1 (GSTM1-active or -null) on benzo[a]pyrene diol epoxide (B[a]PDE)-DNA adduct levels from the lympho-monocyte fraction (LMF) of highly PAH benzo[a]pyrene (B[a]P)-exposed Polish coke oven workers (n = 67, 67% current smokers) with individual urinary post-shift excretion of 1-pyrenol exceeding the proposed biological exposure index (BEI) (2.28 micromol/mol creatinine). The bulky (+/-)-r-7,t-8-dihydroxy-t-9,10-oxy-7,8,9,10-tetrahydrobenzo[a]pyrene (anti-B[a]PDE)-DNA adduct levels were detected by high-performance liquid chromatography (HPLC)/fluorescence analysis and genotypes by polymerase chain reaction. We found that workers with the low DNA repair capacity of XPC-PAT+/+ and XPA-A23A genotypes had significantly increased anti-B[a]PDE-DNA adduct levels (Mann-Whitney U-test, z = 2.24, P = 0.02 and z = 2.65, P = 0.01). Moreover, DNA adducts were also raised in workers without GSTM1 activity (GSTM1-null genotype) (Mann-Whitney U-test, z = 2.25, P = 0.0246). Workers with unfavourable XPC-PAT+/+ and XPA-A23A NER genotypes, alone (approximately 65% of workers) or combined with GSTM1-null genotype (approximately 75% of workers) were in the tertile with the highest adduct level, i.e. >4.11 adducts/10(8) nt (chi2 = 5.85, P = 0.0156 and chi2 = 5.40, P = 0.01). The increase in anti-B[a]PDE-DNA adduct levels (ln values) was significantly related in a multiple linear regression analysis to PAH exposure (i.e. urinary post-shift excretion of 1-pyrenol) (t = 2.61, P = 0.0115), lack of GSTM1 activity (t = 2.41, P = 0.0192) and to low DNA repair capacity of the XPC-PAT+/+ genotype (t = 2.34, P = 0.0226). The influence of the XPA-A23A genotype was not evident in this statistical analysis, and no associations with XPD polymorphisms, dietary habits or tobacco smoking were found. The modulation of anti-B[a]PDE-DNA adducts in the LMF by GSTM1-null and some low-activity NER genotypes may be considered as a potential genetic susceptibility factor capable of modulating individual responses to PAH (B[a]P) genotoxic exposure and the consequent risk of cancer in coke oven workers.     

The impact of genetic factors on the incidence of multiple primary tumors (MPT) of the head and neck

One of the most troublesome failures in head and neck tumors treatment is the incidence of multiple primary tumors (MPT). The aim of the study was to identity the genetic factors associated with the predisposition of second cancer occurrence. The polymorphisms of genes involved in carcinogen metabolic activation (CYP1A1, CYP2E1), detoxication (GSTM1, GSTT1, GSTM3, NAT2,) and DNA repair (XPD /A35931C-exon 23 and C22541A-exon 6/, XRCC1 /G28152A-exon 10 and C26304T-exon 6/, XRCC3/C18067T/) were studied by PCR-based techniques to analyze genotypes and allele distribution in 84 patients with MPT correlated with 182 subjects with a single tumor of head and neck and 143 cancer-free male volunteers recruited from healthy smokers. Out of 11 polymorphisms examined significant differences between studied groups in CYP1A1, GSTM1, NAT2 genes, but not at the CYP2E1, GSTT1, GSTM3, XPD (exon 23 and 6), XRCC1 (exon 10 and 6) and XRCC3 were established. Further, the coexistence of some genotypes/alleles associated with a higher cancer risk, so called 'risk genotypes' was established as an added genetic factor to MPT development. The interpretation of our data indicates that the same group of low-penetration genes is involved in the development of single and multiple primary head and neck cancer but their association with MPT is significantly stronger.     

Immune mechanisms in non-Hodgkin lymphoma: joint effects of the TNF G308A and IL10 T3575A polymorphisms with non-Hodgkin lymphoma risk factors

Two common single nucleotide polymorphisms in immunoregulatory genes (TNF G308A, rs1800629 and IL10 T3575A, rs1800890) have been recently reported as risk factors for non-Hodgkin lymphoma (NHL) in a large pooled analysis. We systematically investigated the effects of other established NHL risk factors in relation to the tumor necrosis factor (TNF) G308A or interleukin 10 (IL10) T3575A genotypes. We calculated odds ratios (OR) and 95% confidence intervals (95% CI) from 1,172 cases and 982 population-based controls in a U.S. multicenter study. We investigated NHL overall and two common subtypes [diffuse large B-cell lymphoma (DLBCL) and follicular lymphoma]. NHL risks were increased among those with both an autoimmune condition and the TNF G308A GA/AA (OR(NHL), 2.1; 95% CI, 1.0-4.2) or the IL10 T3575A TA/AA genotype (OR(NHL), 1.6; 95% CI, 0.9-2.6) compared with individuals without an autoimmune condition and with the common TNF G308A GG or IL10 T3575A TT genotype, respectively; results were similar for DLBCL and follicular lymphoma. We found that elevated DLBCL risk associated with last-born status was more pronounced among those with TNF G308A GA/AA (OR(DLBCL), 2.7; 95% CI, 1.1-6.4) or IL10 T3575A TA/AA (OR(DLBCL), 2.9; 95% CI, 1.6-5.2). Similarly, elevated DLBCL risk associated with obesity (body mass index, > or = 35 versus <25 kg/m(2)) was observed only among those with TNF G308A GA/AA (OR(DLBCL), 2.5; 95% CI, 1.1-5.7) or IL10 T3575A TA/AA genotypes (OR(DLBCL), 2.0; 95% CI, 1.1-3.5). These exploratory results require replication but provide evidence that autoimmune conditions, late birth order, and obesity act partly through a common inflammatory pathway, posing a greater risk to individuals with variant TNF and IL10 genotypes than those with wild-type alleles.     

Body mass index, leptin and leptin receptor polymorphisms, and non-hodgkin lymphoma.

In a population-based case-control study, obesity was associated with elevated odds ratios (ORs) for non-Hodgkin lymphoma (NHL), and the two major subtypes, diffuse large cell (DLCL) and follicular lymphoma (FL). Those who were obese (body mass index >/= 30) were up to three times more likely to develop NHL or its major subtypes than persons with body mass index of 20 to <25. Obesity-related genetic factors including common polymorphisms in the leptin gene (LEP A19G and G-2548A) and its receptor (LEPR Q223R) were investigated in DNA available for 376 patients and 805 controls. Leptin is an adipocyte-derived hormone that regulates food intake and modulates immune and inflammatory responses through its receptor. Among those with the LEP 19G allele, an increased risk estimate was found for all NHL [OR = 1.6, confidence interval (CI) 1.1-2.3], DLCL (OR = 1.6, CI 0.86-3.0), and FL lymphoma (OR = 1.9, CI 0.98-3.6). Gene-gene interaction existed between the -G2548A and LEPR Q223R polymorphisms. Specifically, among those with LEPR 223RR, the risk estimate for NHL was increased in LEP -2548GA (OR = 1.7, CI 0.88-3.1) and LEP -2548AA (OR = 2.3,CI 1.1-4.6) relative to LEP -2548GG genotypes. These results suggest that genetic interactions between leptin and its receptor may promote immune dysfunction associated with obesity and NHL and that the emerging obesity epidemic is consistent with the increasing incidence of NHL in developed countries.     

Single nucleotide polymorphism in 5'-flanking region of BCL6 is not associated with increased risk of non-Hodgkin's lymphoma

Mutations in the 5'-regulatory region of BCL6 were suggested to play a role in non-Hodgkin's lymphoma (NHL) progression and in the transformation of follicular lymphoma to more aggressive diffuse large B-cell type. The aim of this study was to explore association between polymorphism G397C in the 5'-region of BCL6 and both incidence and progression of NHL in 154 NHL cases and 362 controls. Neither frequencies of the rare BCL6 allele 397C nor particular genotypes differed significantly between NHL cases and controls. There was no significant association of histological type of NHL and clinical characteristics with this polymorphism.     

Comprehensive Assessment of Associations between ERCC2 Lys751Gln/Asp312Asn Polymorphisms and Risk of Non-Hodgkin Lymphoma

Background: Excision repair crossing-complementing group 2 (ERCC2), also called xeroderma pigmentosumcomplementary group D (XPD), plays a crucial role in the nucleotide excision repair (NER) pathway. Previousepidemiological studies have reported associations between ERCC2 polymorphisms and non-Hodgkin lymphoma(NHL) risk, but the results have remained controversial. Materials and Methods: We conducted this metaanalysisbased on eligible case-control studies to investigate the role of two ERCC2 polymorphisms (Lys751Glnand Asp312Asn) in determining susceptibility to NHL. Ten case-control studies from several electronic databaseswere included in our study up to August 14, 2014. Pooled odds ratios (ORs) and 95% confidence intervals (CIs)were calculated using fixed- or random-effects models to estimate the association strength. Results: The combinedresults based on all studies did not show any association between Lys751Gln/Asp312Asn polymorphisms and NHLrisk for all genetic models. Stratified analyses by histological subtype and ethnicity did not indicate any significantassociation between Lys751Gln polymorphism and NHL risk. However, a significant reduced risk of NHL wasfound among population-based studies (Lys/Gln versus Lys/Lys: OR=0.87, 95% CI=0.77-0.99, P=0.037) but nothospital-based studies. As for Asp312Asn polymorphism, there was no evidence for the association between thispolymorphism and the risk of NHL in all subgroup analyses. Conclusions: This meta-analysis suggests that theremay be no association between Lys751Gln/Asp312Asn polymorphism and the risk of NHL and its two subtypes,whereas ERCC2 Lys751Gln heterozygote genotype may provide protective effects against the risk of NHL inpopulation-based studies. Therefore, large-scale and well-designed studies are needed to clarify the effects ofhaplotypes, gene-gene, and gene-environment interactions on these polymorphisms and the risk of NHL and itsdifferent histological subtypes in an ethnicity specific population.     

Polymorphisms of the XRCC1 and XPD Genes and Breast Cancer Risk: A Case-Control Study

The purpose of this case control study was to evaluate the role of X-ray repair cross-complementing group 1 (XRCC1) and xeroderma pigmentosum group D (XPD) genotypes as genetic indicators of susceptibility to breast cancer (BC). We analysed DNA samples from 114 breast cancer patients and 113 control subjects using polymerase chain reaction-restriction fragment length polymorphism. For the single nucleotide polymorphisms in XRCC1 exon 10 (Arg399Gln, G/A) and XPD exon 23 (Lys751Gln, A/C), no remarkable differences for genotype distribution and allele frequencies were observed between BC group and control group in the study. The genotype frequency for homozygote A/A in XPD exon 6 (Arg156Arg, C/A) were significantly different between BC and control groups (P < 0.0001, odds ratio = 2.14; 95% confidence interval 1.44-3.17). The data indicate a possible role for XPD (Arg156Arg, C/A) polymorphisms in BC susceptibility.