基质金属蛋白酶-9 基因单核苷酸多态性与肺结核病的相关性研究

目的:探讨基质金属蛋白酶-9(matrix metalloproteinase-9,MMP-9)基因多态性(single nucleotide polymorphism,SNP)与肺结核的相关性。方法:对符合纳入及排除标准的肺结核病例组224例及健康对照组249例进行血样收集与临床资料采集。采用飞行时间质谱分析方法对MMP-9基因rs17576、rs2236416、rs3787268、rs3918254共4个多态性位点进行基因分型,数据统计分析采用SPSS20.0和Haplo View 4.0软件进行。结果:我们首次发现,在病例及对照组中,rs17576基因型频率分布存在统计学差异(X~2=7.822,P=0.020)。与对照组相比,病例组G等位基因频率显著高于对照组(X~2=7.335,P=0.007,OR=1.463,95%CI=1.110-1.927)。病例组rs17576基因型分布中,GG和AG基因型患者吸烟史显著高于AA基因型患者;GG和AG基因型患者卡介苗接种史显著低于AA基因型患者。连锁不平衡分析发现一个单倍型(rs17576-rs3918254)高度连锁(D'0.7;r~20.8)。在病例组及对照组中,G-C和A-C单倍型频率分布存在显著性差异,病例组中G-C单倍型频率显著高于对照组(P=0.022),对照组中A-C单倍型频率显著高于疾病组(P=0.024)。结论:MMP-9基因rs17576多态性位点可能与肺结核有关,携带有rs17576位点G等位基因的个体更易发生肺结核。携带G-C(rs17576-rs3918254)单倍型的个体更易患肺结核病,携带A-C(rs17576-rs3918254)单倍型的个体相对不易患肺结核病。     

CISH基因多态性与结核病易感性的相关性研究

目的:寻找肺结核的易感位点,探索宿主遗传因素差异对肺结核发病的影响,为肺结核的预防和药物研发提供理论依据。方法:对1218名汉族居民进行病例对照研究,其中病例组600例,对照组618例,进行流行病学调查和生化指标检查。运用限制性片段长度多态性聚合酶链反应(PCR-RFLP)技术检测CISH基因rs2239751和rs622502的基因型分布,探讨CISH基因多态性与中国汉族人群肺结核易感性的关联性。结果:CISH基因的rs2239751和rs622502等位基因分布均符合Hardy-Weinberg(H-W)遗传平衡定律(P0.05)。rs2239751位点基因型和等位基因分布在两组间差异有统计学意义,P值分别为0.013和0.01,并且携带C等位基因个体患肺结核的风险是携带A等位基因的个体1.16倍(95%CI=1.03-1.29,P=0.01)。rs2239751基因分型结果在女性病例组和对照组中差异有统计学意义,P值为0.007,OR(95%CI)为1.51(1.12-2.03)。rs2239751基因分型结果在45岁人群病例组和对照组中差异有统计学意义,P值为0.010,OR(95%CI)为1.32(1.07-1.64)。rs622502位点基因型和等位基因分布在两组间差异均无统计学意义(P0.05)。结论:在汉族人群中,rs2239751位点多态性可能是肺结核的危险因素之一,C等位基因为风险等位基因。rs2239751基因多态性与肺结核的关联性仅限于于女性和45岁人群。rs622502位点多态性可能与肺结核无关。     

TLR4基因rs10983755位点单核苷酸多态性与非小细胞肺癌易感性的相关性研究

目的:探讨TLR4基因rs10983755 A/G单核苷酸多态性(SNP)与非小细胞肺癌(NSCLC)易感性的相关性。方法:采用病例-对照研究方法纳入160例非小细胞肺癌患者(NSCLC组)和160例健康对照(NC组),利用MassARRAY飞行时间质谱生物芯片系统对TLR4基因rs10983755位点的单核苷酸多态性进行分型检测,并进行统计学分析。结果:rs10983755等位基因频率在中国汉族NSCLC患者和健康人群中的分布差异具有统计学意义(P0.05),A等位基因携带者NSCLC发生风险是G等位基因携带者的1.821倍(95%CI=1.124~2.906);rs10983755基因型频率在NSCLC患者和健康人群中分布差异具有统计学意义(P0.05),AA+AG基因型NSCLC发生风险是GG基因型的2.103倍(95%CI=1.118~3.898)。结论:TLR4基因rs10983755 A/G单核苷酸多态性与NSCLC的易感性显著相关,A是风险等位基因。     

妊娠相关蛋白A、过氧化物酶体增殖物激活受体-γ基因多态性与子痫前期的易感性和妊娠结局的关系研究

摘要 目的：探讨妊娠相关蛋白A（PAPP-A）、过氧化物酶体增殖物激活受体-γ（PPAR-γ）基因多态性与子痫前期（PE）的易感性和妊娠结局的关系。方法：选取2018年7月至2021年6月石家庄妇幼保健院收治的125例PE患者（PE组）及125例本院同期产检健康孕妇（对照组），统计并对比两组临床结局，根据PE患者妊娠结局的不同分为不良组和良好组。检测所有研究对象外周血脱氧核糖核酸（DNA）样本中PAPP-A、PPAR-γ基因单核苷酸多态性（SNP）位点，并对比PE组与对照组、良好组与不良组SNP位点基因型及等位基因频率，并分析其与PE及PE不良妊娠结局发生的关系。结果：PE组与对照组PPAR-γ基因rs10865710、rs4684847位点及PAPP-A基因rs7020782位点的基因型分布比较有统计学差异，且PE组PPAR-γ基因rs10865710等位基因G、rs4684847等位基因T及PAPP-A基因rs7020782等位基因C频率高于对照组（P＜0.05）；二分类Logistic回归分析显示，PPAR-γ基因rs10865710位点GG基因型（OR=2.641）及G等位基因（OR=1.641）、PPAR-γ基因rs4684847位点CT基因型（OR=3.084）及T等位基因（OR=2.985）、PAPP-A基因rs7020782位点CC基因型（OR=2.104）及C等位基因（OR=1.875）均是PE发生的危险因素（P＜0.05）。PE组总不良妊娠结局发生率为33.60%，显著高于对照组的5.60%（P＜0.05）。不良组与良好组PPAR-γ基因rs10865710、rs4684847位点及PAPP-A基因rs7020782位点的基因型分布比较有统计学差异，且不良组PPAR-γ基因rs10865710等位基因G、rs4684847等位基因T、PAPP-A基因rs7020782等位基因C频率高于良好组（P＜0.05）；二分类Logistic回归分析显示，PPAR-γ基因rs10865710位点GG基因型（OR=2.446）及G等位基因（OR=1.503）、PPAR-γ基因rs4684847位点CT基因型（OR=2.225）及T等位基因（OR=2.013）、PAPP-A基因rs7020782位点CC基因型（OR=2.005）及C等位基因（OR=1.950）均是不良妊娠结局的危险因素（P＜0.05）。结论：PPAR-γ基因rs10865710、rs4684847位点及PAPP-A基因rs7020782位点可能与PE易感性及PE不良妊娠结局的发生有关，检测两个基因的SNP位点可能有助于评估PE及其不良妊娠结局的发生风险。     

IL-17A基因单核苷酸位点多态性与胃癌预后的相关性研究

探讨白介素17A基因多态性与胃癌预后的关系。129例研究对象纳入生存分析,分成死亡和存活两组,用基因测序的方法检测血液样本IL-17A基因SNP位点rs3748067、rs17880588基因型分布。rs3748067位点有3种基因型T/T、C/T、C/C,rs17880588位点有2种基因型A/G、G/G。比较存活组和死亡组之间的基因型分布频率和单点等位基因分布频率,发现rs3748067的基因型C/T在死亡组的分布频率较存活组高,基因型T/T和C/C在死亡组的分布频率低于存活组,两组之间分布频率差异有统计学意义(P0.05)。杂合型C/T基因型在存活组分布低于死亡组(OR=2.051,CI=0.016~1.420),该位点基因型杂合可能为胃癌预后的一种危险因素。rs17880588的两种基因型A/G、G/G在存活组和死亡组的分布频率差异无统计学意义(P0.05)。结论:IL-17A基因rs3748067位点SNP与胃癌预后可能有相关性。     

SUMO4基因多态性与2型糖尿病的关系

为了探讨北京汉族人群小泛素样修饰蛋白4(Small ubiquitin-like modifier 4, SUMO4)基因多态性与2型糖尿病(Type 2 diabetes mellitus, T2DM)的关系, 文章采用病例对照设计, 选取404例T2DM患者(T2DM组)以及年龄、性别匹配的500例健康对照者(Control组)作为研究对象, 应用聚合酶链反应-高分辨熔解曲线(PCR-HRM)技术结合测序验证法, 检测SUMO4基因3个单核苷酸多态性位点(rs237025、rs237024及rs600739)的基因型与等位基因分布情况, 比较T2DM组糖化血红蛋白(Hemoglobin A_1c, HbA_1c)在各基因型间的分布, 并进行单倍型分析。结果显示：①rs237025的G等位基因在T2DM组出现的频率更高(0.334 vs. 0.282, P =0.017); GA基因型携带者患T2DM的风险是AA基因型携带者的1.563倍(P=0.001; OR, 1.563; 95% CI, 1.189-2.053); 在显性模型(GG+GA vs. AA)分析中, G等位基因携带者(GG+GA)患T2DM的风险是AA基因型携带者的1.525倍(P =0.002; OR, 1.525; 95% CI, 1.169-1.989)。而rs237024和rs600739多态性未发现与T2DM的易感性相关(P >0.05)。②在T2DM组, rs237025的G等位基因携带者、rs237024的TT基因型携带者及rs600739的GG基因携带者具有较高的HbA_1c水平, 但各基因型携带者之间HbA_1c水平并无统计学差异(P >0.05)。③单倍型AAC、AGC及GGT与T2DM的易感性正相关(OR>1); 而单倍型AAT、GAC与T2DM的易感性负相关(OR<1)。据此得出结论：rs237025多态性与北京汉族人群T2DM的易感性相关, rs237024和rs600739多态性可能与T2DM的易感性不相关。     

SLC6A4基因多态性与海洛因依赖的关联性研究

目的:探讨5-羟色胺转运体基因(solute carrier family 6 member 4,SLC6A4)基因4个单核苷酸多态性(single nucleotide polymorphism,SNP)位点与海洛因依赖之间的关系。方法:严格按照诊断标准,选取无亲缘关系的海洛因依赖个体397例(病例组)及健康对照个体402例(对照组)提取基因组DNA,采用SNaPshot SNP分型技术对SLC6A4基因4个SNP位点(rs1042173,rs3813034,rs6354,rs7224199)进行基因分型,比较病例-对照组间各位点等位基因、基因型频率的差异。结果:病例组和对照组SLC6A4基因rs1042173和rs3813034位点的基因型和等位基因频率比较存在显著性差异(P0.05),rs1042173的C等位基因(P=0.031,OR=1.317,95%CI=1.026-1.691)及rs3813034的C等位基因(P=0.013,OR=1.375,95%CI=1.069-1.768)是海洛因依赖的危险因素。病例组TCC单倍型(rs7224199、rs3813034和rs1042173)的比例较对照组显著增高(P0.05)。结论:SLC6A4基因rs1042173和rs3813034多态性可能与海洛因成瘾有关,携带有rs1042173的C等位基因和rs3813034的C等位基因的个体及携带TCC单倍型的个体可能更容易对海洛因产生依赖。     

北部湾人群Dectin-1的基因多态性与马尔尼菲青霉菌病易感性的相关性研究

目的:探讨北部湾人群C型凝集素-1(Dectin-1)基因多态性与马尔尼菲青霉菌病易感性的相关性。方法:选取北部湾地区的马尔尼菲青霉菌(PM)病患者71例为病例组,另选北部湾地区的71例体检正常者为对照组,直接测序检测rs16910526、rs16910527位点的基因型及等位基因频率,并分析其与马尔尼菲青霉菌病易感性的相关性。结果:(1)对照组和病例组之间rs16910526有三种基因型GG、GT、TT,两组之间基因型和等位基因频率比较差异不显著(P0.05)。(2)对照组和病例组之间rs16910527有三种基因型AA、AC、CC,且病例组AC的基因型频率显著高于对照组(P0.05)。(3)局限性、播散性PM患者rs16910526、rs16910527基因型和等位基因频率比较差异不显著(P0.05)。(4)rs16910526、rs16910527的4种单倍型:GT、AC、AT、TT,位于同一连锁不平衡区域内,且对照组和病例组A/C的分布频率比较差异具有统计学意义(P0.05)。结论:北部湾人群Dectin-1的rs16910527位点与马尔尼菲青霉菌病易感性相关,且A/C能提高马尔尼菲青霉菌病的易感性。     

TGF-β1基因rs200482214位点多态性与黑龙江省汉族人群慢性牙周炎的相关性研究

目的:探讨转移生长因子β1(transforminggrowth factor beta-l,TGF-β1)位点rs200482214基因多态性与黑龙江省汉族人群慢性牙周炎的易感性的相关性。方法:选取2012年3月至2013年7月在哈尔滨医科大学附属口腔医院牙周科就诊的135例轻、中、重度慢性牙周炎汉族患者(牙周炎组)和108例汉族健康对照者(健康对照组)作为研究对象,基因组DNA来自口腔颊粘膜拭子,采用多重单碱基延伸SNP分型技术(Multiplex SNaPshot technique)对所有受试者TGF-β1基因rs200482214位点进行检测,比较两组间此位点基因型分布和等位基因频率的差异。结果:(1)TGF-β1基因rs200482214位点各基因型(GG、GA、AA)分布均符合Hardy-Weinberg遗传平衡定律(P0.05);(2)TGF-β1基因rs200482214位点GG、GA、AA在牙周炎组和健康对照组的分布频率分别为61.5%、30.4%、8.1%和63.0%、28.7%、8.3%,两组人群基因型分布频率差异无统计学意义(P0.05);等位基因G、A在牙周炎组和健康对照组分布频率分别为76.7%、23.3%和77.3%、22.7%,两组人群的等位基因分布频率差异亦无统计学意义(P0.05)。结论:TGF-β1位点rs200482214基因多态性与黑龙江省汉族人群慢性牙周炎的易感性不具有相关性。     

染色体1q12 区段IL6R 基因多态性与儿童哮喘易感性的研究

目的:检测染色体1q12区段IL6R基因多态性与儿童发生支气管哮喘易感性的关系。方法:150名支气管哮喘患儿为支气管哮喘组。150名健康儿童为对照组。采用质谱单核苷酸多态性(SNP)技术,对两组儿童的IL6R基因进行分析。结果:两组IL6基因位点的分布符合Hardy-Weinburg平衡定律。两组IL6R基因rs4845374位点的基因型与等位基因相比较,无明显差异(X2值分别为3.442和3.701;P值分别为0.179和0.088)。两组IL6R基因rs2228145位点的基因型与等位基因相比较,差异均有统计学意义(X2值分别为6.635和9.200;P值分别为0.036和0.003)。IL6R基因rs2228145位点基因型的变异等位基因T、C与支气管哮喘存在密切联系,CC、TT型出现支气管哮喘的风险均比CT型高。结论:IL6R基因rs4845374位点与儿童支气管哮喘无相关性,而rs2228145位点多态性与儿童支气管哮喘有相关性。     

The IL-17F sequence variant is associated with susceptibility to tuberculosis

The interleukin (IL)-17 gene plays a key role in host defence against infections from microbes, including Mycobacterium tuberculosis. Genetic factors contribute to host defence. However, whether genetic variation in IL-17 is associated with altered susceptibility to tuberculosis is unknown. A total of 596 pulmonary tuberculosis (PTB) patients, 176 extra-pulmonary tuberculosis (EPTB) patients, and 622 control patients from a Chinese Han population were recruited. Two single-nucleotide polymorphisms (SNPs) in IL-17F (rs1889570 and rs763780) and one SNP in IL-17A (rs2275913) were genotyped using the SNaPshot technique. Of the three SNPs in the IL-17 gene tested, there was an increased frequency of the rs1889570 G allele and the rs763780 C allele in the PTB patients and an increased frequency of the rs763780 C allele in the EPTB patients compared with the control patients. There were also significant differences in the distribution of the rs763780 genotype between the PTB and EPTB patients and the controls. The patients who had the CT/TT genotype of the rs763780 SNP were more susceptible to tuberculosis, compared to the CC genotype. There was no significant difference observed between the IL-17 SNPs when the PTB and EPTB patients were compared. Genetic variation in IL-17F is associated with altered susceptibility to tuberculosis and may provide valuable information in the development of tuberculosis.     

Analysis of MIF,FCGR2A and FCGR3A gene polymorphisms with susceptibility to pulmonary tuberculosis in Moroccan population

In order to investigate the influence of functional polymorphisms of macrophage migration inhibitory factor(MIF),Fcg receptors CD16A(FCGR3A) and CD32A (FCGR2A) genes on susceptibility to pulmonary tuberculosis(PTB)in the Moroccan population,we analyzed 123 patients with PTB and 154 healthy controls.The genotyping for MIF-173(G/C)(rs755622),FCGR2A-131H/R(rsl801274)and FCGR3A-158V/F(rs396991) was carried out using TaqMan SNP Genotyping Assay method.We found a statistically significant increase of the MIF-173CC homozygote genotype and MIF-173*C allele frequencies in PTB patients compared with healthy controls (17.07%versus 5.84%,P=0.003;and 35.37%versus 26.30%,P=0.02;respectively).In contrast,no association was observed between CGR2A-131H/R and FCGR3A-158V/F polymorphisms and tuberculosis disease.Our finding suggests that MIF-173*C variant may play an important role in the development of active tuberculosis.     

Association of CTLA4 gene polymorphisms with susceptibility and pathology correlation to pulmonary tuberculosis in Southern Han Chinese

The cytotoxic T lymphocyte antigen-4 (CTLA4) gene is a key negative regulator of the T lymphocyte immune response. It has been found that CTLA4 +49A>G (rs231775), +6230G>A (rs3087243), and 11430G>A (rs11571319) polymorphisms are associated with susceptibility to many autoimmune diseases, and can down-regulate the inhibition of cellular immune response of CTLA4. Three SNPs in CTLA4 were genotyped by using the PCR and DNA sequencing methods in order to reveal the susceptibility and pathology correlation to pulmonary tuberculosis in Southern Han Chinese. We found that the frequency of CTLA4 +49AG genotype in the pulmonary tuberculosis patients (38.42%) was significantly lower than that of the healthy controls (49.77%), (P(cor)=0.038, OR 0.653, 95% CI 0.436-0.978). But, no associations were found between the other 2 SNPs (+6230G>A, 11430G>A) and tuberculosis (P>0.05). Haplotype analysis showed that the frequency of haplotype AGG in the healthy controls group (6.9%) was significantly higher than the pulmonary tuberculosis patients group (1.4%), (global P=0.005, P(cor)=0.0002, OR 0.183, 95% CI 0.072-0.468). In addition, haplotype GGA was found to be significantly related to tuberculosis with double lung lesion rather than single lung lesion (P(cor)=0.042). This study is the first to report that genetic variants in the CTLA4 gene can be associated with pulmonary tuberculosis in Southern Han Chinese, and CTLA4 +49AG genotype as well as haplotype AGG may reduce the risk of being infected with pulmonary tuberculosis. The GGA haplotype was related to tuberculosis with double lung lesion, which provides a new experimental basis to clarify the pathogenesis of pulmonary tuberculosis.     

Polymorphic allele of human MRC1 confer protection against tuberculosis in a Chinese population

Mannose receptor is a member of the C-type lectin receptor family involved in pathogen molecular-pattern recognition, and plays a critical role in shaping host immune response. Single nucleotide polymorphisms (SNPs) in the MRC1 gene may affect expression levels and differences in the structure and function of proteins in different individuals, thereby affecting individual susceptibility to pulmonary tuberculosis. However, to date, MRC1 polymorphisms associated with susceptibility to pulmonary tuberculosis have not yet been reported. The present study aimed to investigate potential associations of SNPs in the MRC1 gene with pulmonary tuberculosis in a Chinese population. Six SNPs (G1186A, G1195A, T1212C, C1221G, C1303T and C1323T) in exon 7 of the MRC1 gene were genotyped using the PCR and DNA sequencing methods in the pulmonary tuberculosis patients and the healthy controls. Linkage disequilibrium analysis was performed between polymorphic sites. The study found that the allele frequency of G1186A (rs34039386) of the MRC1 gene in a Chinese population was higher in the pulmonary tuberculosis group than the healthy control group. There was a significant difference in frequency distribution between the two groups (P = 0.037; OR = 0.76; 95% CI, 0.58-0.98). Genotypic analysis also indicated that the AG genotypes in a Chinese population were significantly correlated with pulmonary tuberculosis (P < 0.01; OR = 0.57; 95% CI, 0.37-0.87). After adjustment for age and gender, G1186A sites were found to be dominant (P < 0.01; OR = 0.59; 95% CI, 0.40-0.87), over-dominant (P = 0.045; OR = 0.69; 95% CI, 0.47-0.99) and additive models (P = 0.041; OR = 0.76; 95% CI, 0.59-0.99) in association with pulmonary tuberculosis. But, no association was found between the other 5 SNPs (G1195A, T1212C, C1221G, C1303T and C1323T) and tuberculosis (P > 0.05). This study is the first to report that genetic variants in the MRC1 gene can be associated with pulmonary tuberculosis in a Chinese population, and may reduce the risk of infecting pulmonary tuberculosis. This also provides a new experimental basis to clarify the pathogenesis of pulmonary tuberculosis.     

Genetic polymorphisms of IFNG and IFNGR1 in association with the risk of pulmonary tuberculosis

Objective

Genetic host factors play an important role in controlling individual's susceptibility to the pathogen. This study aims to explore the single and joint effect of genetic polymorphisms of interferon-gamma (IFNG) and its receptor (IFNGR1) in association with the pulmonary tuberculosis in a Chinese Han population.

Methods

This population-based case control study consisted of 1434 pulmonary tuberculosis patients and 1412 healthy controls. Six tag SNPs in IFNG/IFNGR1 were genotyped using TaqMan allelic discrimination technology. The logistic regression model was carried out to analyze the associations between the genotypes and haplotypes and the risk of tuberculosis by calculating the odds ratio (OR) and 95% confidence interval (CI).

Results

After the Bonferroni correction for multiple comparisons, three SNPs (rs2234711, rs1327475 and rs7749390) in IFNGR1 gene were observed to be significantly associated with the altered risks of tuberculosis. For the SNP rs2234711, individuals carrying C allele (vs. T) showed a decreased risk, with the adjusted OR(95% CI) of 0.82(0.76–0.91). The additive model revealed that each additional allele contributed about 14% decreased risk (OR: 0.86, 95% CI: 0.77–0.95). Moreover, we observed a strong linkage disequilibrium between rs2234711 and rs3799488. Compared with the common rs2234711C–rs3799488C haplotype, the haplotype rs2234711T–rs3799488C contributed to a significant increase in the risk of tuberculosis (adjusted OR: 1.24, 95% CI: 1.09–1.41).

Conclusions

Our results suggest that genetic polymorphisms in IFNGR1 gene are involved in the risk of tuberculosis in the Chinese population. Future studies should include a comprehensive sequencing analysis to identify the specific causative sequence variants underlying the observed associations.     

Fibroblast growth factor receptor 4 polymorphisms and coronary artery disease: a case control study

Fibroblast growth factors (FGFs) and their receptors (FGFRs) play important roles in vascular system. FGFR4 rs351855 (Gly388Arg) polymorphism has shown to be a risk factor for many diseases. The aim of this study was to investigate the association between FGFR4 polymorphisms and the susceptibility to coronary artery disease (CAD) in the Chinese population. We identified three polymorphisms in the FGFR4 gene, rs351855G/A (Gly388Arg), rs145302848C/G and rs147603016G/A, by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 658 CAD cases and 692 healthy controls. Results showed that frequencies of GA genotype, AA genotype and A allele in rs351855 (Gly388Arg) polymorphism were significantly lower in CAD patients than in controls [odds ratio (OR) = 0.79, 95 % confidence intervals (CI) 0.62-0.99, P = 0.042; OR = 0.58, 95 % CI 0.41-0.81, P = 0.002; and OR = 0.77, 95 % CI 0.66-0.90, P = 0.001, respectively]. The rs147603016GA genotype and A allele also showed lower numbers in CAD cases (OR = 0.58, 95 % CI 0.36-0.93, P = 0.025; and OR = 0.59, 95 % CI 0.40-0.95, P = 0.028). The rs145302848C/G polymorphism did not show any correlation with CAD. Haplotype analysis revealed that the prevalence of ACG haplotype (rs351855, rs145302848 and rs147603016) was significantly decreased in CAD patients (P = 0.002). Our data suggested that the FGFR4 rs351855G/A (Gly388Arg) and rs147603016G/A polymorphisms could act as protective factors against CAD in the Chinese population and indicated that a single gene polymorphism could have diverse functions in different diseases.     

Association of the <Emphasis Type="Italic">rs1870634</Emphasis> Variant in Long Intergenic Non-protein Coding RNA 841 with Coronary Artery Disease: A GWAS-Replication Study in an Iranian Population

Recent genome-wide association studies (GWAS) identified a list of single-nucleotide polymorphisms (SNPs) associated with coronary artery disease (CAD). Replication of GWAS findings in different population corroborated the observed association in the parent GWAS. In this study, we aimed to replicate the association of rs1870634, a GWAS identified SNP, to CAD in an Iranian population. The study population consisted of 267 subjects undergoing coronary angiography coronary angiography including 155 CAD patients and 112 non-CAD age- and gender-matched controls. The genotype determination of rs1870634 SNP performed using high-resolution melting analysis (HRM) technique. Our results revealed that the GG genotype frequency was significantly higher in CAD patients compared with controls (P?=?0.03). The results of binary logistic regression suggested that this genotype was significantly associated with CAD risk adjustment for age, BMI, sex, TC, and LDL-C lipid levels (OR of 2.78, 95% CI (1.10–7.01), P?=?0.03). Moreover, our results showed that the GG+TG genotypes were 2.52 times more likely to develop CAD (95% CI 1.05–6.03) than TT genotype carriers after adjusting for age, sex, and lipid profiles (P?=?0.037). These data showed that the GG genotype could be associated with increased risk of CAD in a sample of Iranian population.