锰超氧化物歧化酶基因Ala(-9)Val多态性与2型糖尿病视网膜病变的相关性

目的 探讨锰超氧化物歧化酶(manganese superoxide dismutase,Mn-SOD)基因Ala(-9)Val多态性与2型糖尿病视网膜病变发生的关联性.方法 应用PCR-直接测序方法检测了中国湖北地区汉族264例2型糖尿病患者和198名正常对照者的Mn-SOD基因Ala(-9)Val多态性(GCT→GTT).结果 (1)2型糖尿病组与正常对照组比较,VV基因型频率(72.7%vs 67.2%,P>0.05)与V等位基因频率(76.1%vs71.0%,P>0.05)差异无统计学意义.(2)在2型糖尿病者中,有糖尿病视网膜病变(diabetic retinopathy,DR)组 VV基因型频率为79.2%,与无糖尿病视网膜病变(non-diabetic retinopathy,NDR)组(66.9%)比较,差异有统计学意义(x2=5.015,P=0.025);V等位基因频率在DR组为82.4%,NDR组为70.5%,差异亦有统计学意义(x2=10.253,P=0.001);NDR组与正常对照组比较,VV基因型频率(66.9%vs67.2%,P>0.05)及V等位基因频率(70.5%vs 71.0%,P>0.05)差异无统计学意义,V等位基因与2型糖尿病视网膜病发生相关(OR=1.96,95%CI:1.29-2.97).(3)基因型为VV型的2型糖尿病患者其Nn-SOD水平较AA型、AV型患者低,差异有统计学意义(P=0.025),其总超氧化物歧化酶有增加趋势,但差异无统计学意义(P>0.05).结论 Mn-SOD基因Ala(-9)Val多态性与2型糖尿病发病无关,但可能参与了2型糖尿病视网膜病变的发生、发展过程.     

C-反应蛋白在2型糖尿病视网膜病变患者血清中的变化及临床意义

目的:探讨血清C-反应蛋白(CRP)在糖尿病视网膜病变(DR)患者血清中的变化及临床价值.方法:90例2型糖尿病(12DM)患者和45例健康查体者(对照组)为研究对象,根据眼底检查将90例T2DM患者分为糖尿病无视网膜病变组(无病变组),糖尿病视网膜病变组(病变组),测定血清CRP、糖化血红蛋白(HbAlc)水平及常规生化指标.结果:病变组、无病变组血清CRP和HbAlc水平显著高于对照组,且病变组血清CRP和HbAlc水平显著高于无病变组,相比较均有显著性差异(P<0.05);血清CRP、HbAlc水平为Ⅳ期>Ⅲ期>Ⅱ期>Ⅰ期,各组间比较有显著性差异(P<0.05);DR患者血清CRP、HbAlc水平与糖尿病视网膜病变程度呈显著正相关(r=0.678,0.591;P<0.01).结论:在糖尿病视网膜病变进程中,CRP起着非常重要的作用,CRP可以做为判定2型糖尿病患者发生DR的可靠指标.     

尿足细胞标志蛋白Podocalyxin、Mindin水平与糖尿病视网膜病变的关系

目的:探讨2型糖尿病(T2DM)患者尿足细胞标记蛋白Podocalyxin(PCX)、Mindin(MIN)与糖尿病视网膜病变(DR)的关系。方法:选择90例T2DM患者(A组),依据视网膜病变程度分为3个亚组:糖尿病无DR组(A1组,n=36)、非增生型DR组(A2组,n=29)和增生型DR组(A3组,n=25);另选32名健康体检者作为对照组(B组)。平行测定各组尿PCX、MIN、血肌酐(Scr)和尿肌酐(Ucr),计算尿PCX相对值(PCR=尿PCX/Ucr)、尿MIN相对值(MCR=尿MIN/Ucr)和肾小球滤过率(eGFR),比较各组各指标差异及其相关性。结果:各组PCR、MCR、Scr、eGFR差异均有统计学意义(P0.01)。A组各亚组MCR、PCR、Scr显著高于B组,eGFR显著低于B组(均P0.05);MCR、PCR从A1-A3组逐渐递增(P0.05)。PCR与MCR呈正相关(P0.05);PCR、MCR与DR分级呈正相关(P0.05),且均与Scr呈正相关(P0.05),与eGFR呈负相关(P0.05)。结论:尿PCX、MIN水平升高与DR有关,可作为DM微血管病变观察、治疗的新靶标。     

2型糖尿病及其肾病与血管生成素2基因多态性的关联分析

目的 研究2型糖尿病(type 2 diabetes mellitus,T2DM)及其肾病(diabetic nephropathy,DN)发生、发展与血管生成素2(angiopoietin-2,Ang-2)基因多态性的关联性.方法 应用等位基因特异聚合酶链反应检验无亲缘关系汉族人群的2型糖尿病及其肾病患者221例、正常对照104名Ang-2基因单核苷酸多态性(single nucleotide polymorphism,SNP)759T/G、1078A/G、1233A/G在病例组中的频率,并用尿白蛋白排泄率、炎症标志物单核细胞趋化蛋白浓度变化探讨上述SNP与T2DM、DN发生发展的关联.结果 (1) Ang-2 759 T/G、1078 A/G基因型频率和等位基因频率在各组中的差异无统计学意义,而1233 A/G基因型频率和等位基因频率的差异有统计学意义(P＜0.05);(2)在校正年龄和性别等因素后,1233A/GSNP G等位基因患T2DM和DN的风险分别是A等位基因的2.265倍(95％ CI:1.223～1.402,P=0.031)和1.789倍(95％ CI:0.889～1.021,P=0.012);(3) Ang-2 1233A/G G等位基因与DN发生相关(r=1.321,OR=1.427,95％ CI:2.324～4.177,P=0.034).结论 Ang-2 1233A/G SNP与2型糖尿病的发生有关;AG+ GG基因型和等位基因G可能是DN发生、发展的风险因素.     

TCF7L2、CDKAL1、SLC30A8和HHEX基因多态性与2型糖尿病微血管并发症的相关性

目的 研究TCF7L2、CDKAL1、SLC30A8和HHEX基因单核苷酸多态性(single nucleotide polymorphism,SNP)与2型糖尿病微血管并发症的相关性.方法 采用病例-对照方法分析研究对象[糖尿病视网膜病变组(diabetic retinopathy,DR)479例,糖尿病肾病组(diabetic nephropathy,DN) 248例,对照组650名]的TCF7L2基因rs7903146、rs6585205、rs11196218位点,CDKAL1基因rs10946398、rs4712527位点,SLC30A8基因rs13266634、rs3802177、rs11558471位点,HHEX基因rs1111875、rs7923837位点多态性与DR、DN发病风险的关系.结果 SLC30A8 rs11558471的等位基因及基因型频率在DR与对照组间差异有统计学意义(P＜0.05),等位基因A、基因型AA的OR值分别为1.27、1.68,TCF7L2 rs11196218的A等位基因在DN与对照组之间差异有统计学意义(P=0.0051,OR=1.37),但对P值做Bonferroni校正后差异无统计学意义.SLC30A8 rs13266634和rs3802177,CDKAL1 rs10946398,TCF7L2 rs6585205、rs7903146、rs11196218,HHEX rs7923837的等位基因及基因型频率在DR组与对照组间比较差异无统计学意义(P＞0.05),TCF7L2 rs6585205,CDKAL1 rs4712527,SLC30A8 rs13266634、rs3802177和rs11558471和HHEX rs7923837的等位基因和基因型频率在DN与对照组间差异无统计学意义,但是其相应的OR值都大于1.结论 SLC30A8基因多态性可能与DR发病相关;TCF7L2基因多态性可能与DN发病相关;不能排除CDKAL1、TCF7L2、HHEX基因多态性与DR的相关性及SLC30A8、CDKAL1、HHEX基因多态性与DN的相关性.     

肥胖的候选基因—UCP2的研究进展

线粒体氧化磷酸化合成ATP时有部分能量以热能形式发散 ,解偶联蛋白 (UCP)具有使线粒体呼吸链解偶联作用 ,解偶联所释放的能量以热能的形式发散。在对UCP与产热关系的研究中 ,发现UCP2具有许多UCP1所没有的功能 ,并且可能是将肥胖与 2型糖尿病相关联的一个重要基因。     

解偶联蛋白2基因Ala55Val变异与中国人脂代谢、体脂含量及分布的关系

目的 探讨解偶联蛋白2(uncoupling protein 2,UCP2)基因Ala 55Val(A55V)变异与中国人脂代谢、体脂含量及分布的关系.方法 用PCR-RFLP检测359例无亲缘关系的中国人[据1997年ADA标准分为:糖耐量正常者(normal glucose tolerance,NGT)193例,2型糖尿病166例]UCP2基因A55V变异的基因型,局部体脂分布参数用核磁共振仪(magnetic resonance imaging,MRI)测定.结果 在NGT组中,UCP2基因A55V变异与女性的体重指数(body mass index,BMI)及股部皮下脂肪面积(femoral subcutaneous adipose tissue area,FA)相关(P值分别为0.0246及0.0017);与男性的血甘油三酯(triglyceride,TG)水平相关(P=0.0072).在2型糖尿病组中,同样可以发现UCP2基因A55V变异与女性的FA相关(P=0.0150).AA纯合子的女性(无论是NGT还是2型糖尿病)具有较低的FA.Logistic回归分析发现:UCP2基因A55V变异与FA(NGT女性:P=0.0098;2型糖尿病女性:P=0.0071)、BMI(NGT女性:P=0.0016)以及TG水平(NGT男性:P=0.0040)相关.结论 UCP2基因A55V变异与中国女性的FA(无论是在NGT还是在2型糖尿病组中)及BMI(在NGT组中)相关,因此UCP2基因该变异参与了中国女性的体脂含量及分布的调节.     

正常中国人及肥胖患者解偶联蛋白1基因-3826 A/G多态性的研究

目的 研究解偶联蛋白1(uncoupling protein 1,UCP1)基因-3826 A/G多态性是否与中国人肥胖有关联,为探讨肥胖的分子遗传基础提供依据.方法 应用聚合酶链反应-限制性片段长度多态性分析法,对成都地区384名汉族人(257例非肥胖者及127例肥胖者)UCP1基因-3826 A/G多态性位点进行分析,采用酶法和单向免疫扩散法对血脂和载脂蛋白水平进行测定.结果 UCP1基因-3826 A/G多态位点A、G等位基因频率在肥胖组为0.508、0.492,在非肥胖组为0.467、0.533,两组间等位基因的频率差异无统计学意义(P>0.05).-3826 A/G位点在肥胖组GG基因型携带者血清载脂蛋白(apolipoprotein,apo)B100水平高于AA基因型者(P<0.05),AG型者apo CⅡ、apo CⅢ水平均分别高于AA基因型携带者(P<0.05).在非肥胖男性亚组,GG纯合基因型携带者血清高密度脂蛋白胆固醇(high-density lipoprotein cholesterol,HDL-C)及apoAⅠ水平显著低于AA基因型携带者(P<0.05);AG型者apoAⅡ水平低于AA基因型者.在肥胖男性亚组,GG基因型携带者血清apo B100水平较AA型者显著升高(P<0.05);在肥胖女性亚组,GG基因型者apo AⅠ水平低于AG型者,AG型者apoCⅡ、apoCⅢ水平均分别高于AA型者(P<0.05).结论 UCP1基因-3826A/G多态性与成都地区中国汉族人肥胖无关联,但与血清HDL-C及apoAⅠ、apoB100等载脂蛋白水平含量有关,且具有性别差异.     

初探糖尿病视网膜病变与糖尿病肾病的相关性

目的:分析糖尿病视网膜病变(DR)与糖尿病肾病(DN)之间的关系。方法:对236例二型糖尿病患者进行荧光素眼底血管造影(FFA)和12小时尿白蛋白排泄率(AER)的检查,根据眼底改变将病人分为三组,计算各组患者并发糖尿病肾病的比例,并做尿白蛋白排泄率与DR眼底改变的相关性分析。结果:DR临床前期组的病人中有5%并发DN,DR非增殖期组的病人中有42%并发DN,DR增殖期组的病人中有71%并发DN;AER与DR的眼底改变呈显著的正相关性。结论:糖尿病视网膜病变和糖尿病肾病临床表现密切相关,呈平行发展关系。     

血清同型半胱氨酸水平、亚甲基四氢叶酸还原酶基因多态性与糖尿病视网膜病变的相关性研究

目的探讨血清同型半胱氨酸（Hcy）水平、亚甲基四氢叶酸还原酶（MTHFR）基因的分布情况与糖尿病视网膜病变（DR）的关系。方法应用聚合酶链反应和限制性片断长度多态性（PCR-RELP）方法检测47例健康对照组和50例糖尿病视网膜病变患者MTHFR基因的677碱基多态性突变C—T情况，同时测定其血清Hcy水平和叶酸水平，进行对照分析。结果糖尿病视网膜病变患者MTHFR基因突变型C677T基因的频率明显高于对照组。差异有显著性（P〈0．05），且Hcy水平明显增高。在叶酸浓度≤6．92nmol／L时。DR组1Tr型发生频率及T等位基因频率明显高于对照组（P〈0．05）；但当叶酸浓度〉6．92nmol／L时。DR组TT型发生频率及T等位基因频率与对照组无差异（P〉0．05）。结论MTHFR基因C677T位碱基突变导致血浆Hcy水平升高是糖尿病视网膜病变发病的重要危险因素。但受叶酸浓度的影响。     

糖尿病视网膜病MTHFR基因多态性及其与血浆同型半胱氨酸水平的关系

目的：研究亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase,MTHFR）基因多态性及血浆同型半胱氨酸水平与2型糖尿病视网膜病的关系。方法：应用聚合酶链反应－限制性内切酶片段长度多态性技术检测208例2型糖尿病患者（其中110例伴视网膜病）及57名正常对照的MTHFR C677T基因型，采用高效液相色谱法测定血浆同型半胱氨酸水平。结果：糖尿病视网膜病组MTHFR基因TT纯合基因型、CT杂合基因型及T等位基因频率（分别为28．18％、41．82％、49．09％）均明显高于糖尿病不伴视网膜病组（分别为18．37％、29．59％、33．16％）及正常对照组（分别为17．54％、28．07％、31．58％），基因型和等位基因频率分布差异均有显著性（P＜0．01），而MTHFR基因多态性在糖尿病不伴视网膜病组与正常对照组之间差异无显著性（P＞0．05），T等位基因与糖尿病视网膜病的发生密切相关（OR＝1．94，95％CI；1．31－2．88）。糖尿病视网膜病组、糖尿病不伴视网膜病组及正常对照组中，MTHFR基因有C677T突变者血浆同型半胱氨酸水平均显著高于无基因突变者。结论：MTHFR基因C677T位碱基突变致血浆同型半胱氨酸水平升高可能是糖尿病视网膜病发病的重要遗传因素。     

Association between obesity and insulin resistance with UCP2-UCP3 gene variants in Spanish children and adolescents

A number of studies have yielded controversial results on the association between polymorphisms in UCP2 and UCP3 genes with obesity and its comorbidities. The discrepancy among studies might be partially explained by the lack of consideration of the effect of adjacent loci in the same haplotype and the exclusion of key lifestyle factors in the statistical analysis. In this study, we have assessed the association between three genetic variants of the UCP2-UCP3 gene cluster, the -866G/A (rs659366) and the 45bp insertion (in position 173247 of the AC019121) of the UCP2 gene, the -55C/T (rs1800849) polymorphism of the UCP3 gene and their estimated haplotypes with childhood obesity and insulin resistance. This research was designed as a case-control study and information about several environmental parameters such as leisure time physical activity and time spent watching television were included. The study sample consisted in 193 obese children and adolescents (cases) and 170 controls aged 6-18. We found that the individual polymorphisms were not associated with obesity, but the (-866G; rs659366)-(Del; 45bp)-(-55T; rs1800849) haplotype was significantly associated with obesity and its presence in the control group increased about nine times the insulin resistance risk. Thus, the (-866A; rs659366)-(Ins; 45bp)-(-55C; rs1800849) haplotype may protect against insulin resistance in the obese population group.     

Polymorphism R25P in the gene encoding transforming growth factor-beta (TGF-beta1) is a newly identified risk factor for proliferative diabetic retinopathy

Associations of the genetic polymorphisms in the promoter region and the signal peptide sequence of the transforming growth factor-beta (TGF-beta1) gene with proliferative diabetic retinopathy (PDR) in patients with non-insulin-dependent diabetes mellitus (NIDDM) were studied. A total of 245 Caucasian subjects comprised the two groups: NIDDM patients with PDR (n = 73) and NIDDM patients without PDR (n = 172). Allele frequencies of common TGF-beta1 polymorphisms (at positions -988C/A, -800G/A, -509C/T, +869T/C (L10P), and +915G/C (R25P)) were determined by PCR-based methodology. All polymorphisms were in strong linkage disequilibrium (P < 10(-2)). Significantly higher frequencies of both the L allele and the R allele of the signal sequence polymorphisms in PDR subjects were found (after a correction for multiple comparisons, P(corr) < 10(-2) and P(corr) < 10(-4), respectively). Calculated odds ratios (ORs) for the LL and RR genotypes were 2.89 (95% confidence interval (CI), 1.6-5.1) and 19.73 (95% CI, 2.6-146.8), respectively. No significant differences between groups were found for the -800G/A and -509C/T polymorphisms. The -988A allele was not represented in our sample. Multiple logistic regression identified age, diabetes duration, and R25P polymorphism as significant predictors (P = 0.002, P = 0.000003, and P = 0.007, respectively). The frequencies of genotype combinations of the -800G/A, -509C/T, L10P, and R25P TGF-beta(1) polymorphisms were significantly different between the PDR and non-PDR groups (chi(2) = 37.83, df = 20, P < 10(-2)). The frequency of haplotype consisting of majority alleles was found significantly associated with PDR (P < 0.03). The presented data indicate that the R25P polymorphisms in the TGF-beta1 gene could be regarded as a strong genetic risk factor for PDR.     

Association of UCP1 genetic polymorphisms with blood pressure among Korean female subjects

Recent studies have provided some clues with regard to the relationship existing between uncoupling protein 1 (UCP1) and blood pressure in animal experiments. In an attempt to determine the genetic polymorphisms that are associated with blood pressure in humans, we have analyzed genetic polymorphisms in UCP1 gene. In this study, we assessed the association between UCP1 genotypes and systolic blood pressure (SBP) and diastolic blood pressure (DBP), in a population comprised of 832 Korean female subjects, using a general linear model, which was adjusted for age and body mass index (BMI). Among 4 genetic polymorphisms and the haplotypes constructed from them, haplotype3 of UCP1, UCP1-ht3[GAGA], evidenced significant associations with SBP (p=0.005) and DBP (p=0.013). However, this haplotype was not significantly associated with obesity phenotypes, including BMI or fat mass (p>0.05), thereby suggesting that its association with blood pressure was independent of obesity phenotypes.     

MCP-1 and RANTES polymorphisms in Korean diabetic end-stage renal disease

Macrophage infiltration has been observed in the renal biopsy specimens of diabetic nephropathy (DN), and hyperglycemic state stimulates the renal expression of RANTES (regulated upon activation, normal T-cell expressed and secreted) and MCP- 1 (monocyte chemoattractant protein-1). Upregulation of RANTES and MCP-1 with infiltrating macrophages may play a crucial role in the development and progression of DN. Genetic polymorphisms of RANTES and its receptors were reported to be independent risk factors for DN. We genotyped single nucleotide polymorphism (SNPs) in the MCP-1 G-2518A, CCR2 G46295A, RANTES C-28G and G-403A in 177 diabetic end-stage renal disease (ESRD) patients and 184 patients without renal involvement (controls) in order to investigate the effects of these SNPs on DN in Korean patients with type 2 DM. There were no differences in the frequencies of SNPs and the distribution of haplotypes of RANTES promoter SNPs between two groups. In conclusion, there were no associations of MCP-1, CCR2 and RANTES promoter SNPs with diabetic ESRD in Korean population. Prospective studies with clearly-defined, homogenous cohorts are needed to confirm the effect of these genetic polymorphisms on DN.     

Relationship between plasminogen activator inhibitor type-1 (PAI-1) gene polymorphisms and osteoporosis in Turkish women

OBJECTIVE:

The development of osteoporosis is associated with several risk factors, such as genetic structures that affect bone turnover and bone mass. The impact of genetic structures on osteoporosis is not known. Plasminogen activator inhibitor type-1 regulates the bone matrix and bone balance. This study assessed the correlation between plasminogen activator inhibitor type-1 gene 4G/5G polymorphisms and osteoporosis in a population of Turkish women.

METHODS:

A total of 195 postmenopausal female patients who were diagnosed with osteoporosis (Group I) based on bone mineral density measurements via dual-energy x-ray absorptiometry and 90 females with no osteoporosis (Group II) were included in this study. Correlations between PAI-1 gene 4G/5G polymorphisms and osteoporosis were investigated through the identification of PAI-1 gene 4G/5G polymorphism genotypes using the polymerase chain reaction.

RESULTS:

No significant differences in the genotype and allele frequency of 4G/5G plasminogen activator inhibitor type-1 polymorphisms were observed between the two groups, and both groups exhibited the most frequently observed 4G5G genotype.

CONCLUSION:

No correlation between the development of osteoporosis in the female Turkish population and 4G/5G plasminogen activator inhibitor type-1 gene polymorphisms was observed.     

Identification of a polymorphism of UCP3 associated with recurrent in-stent restenosis of coronary arteries

The purpose of the present study was to identify gene polymorphisms that confer susceptibility to recurrent restenosis after bare-metal stenting of coronary arteries, and thereby to assess the genetic risk for this condition. The study population comprised 527 unrelated Japanese individuals, including 28 subjects who developed in-stent restenosis two or more times and 499 subjects without restenosis. The genotypes for 142 polymorphisms of 121 candidate genes were determined with a method that combines the polymerase chain reaction and sequence-specific oligonucleotide probes with suspension array technology. Eleven polymorphisms were related (P<0.05) to the prevalence of recurrent in-stent restenosis as determined by the Chi-square test. Multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, and hypercholesterolemia revealed that the -55Cright curved arrow T polymorphism of the uncoupling protein 3 gene (UCP3) was significantly (P=0.0006 in a recessive model) associated with the prevalence of recurrent in-stent restenosis, with the T allele representing a risk factor for this condition. A stepwise forward selection procedure showed that the UCP3 genotype significantly (P=0.0014, recessive model) affected the prevalence of recurrent in-stent restenosis. Determination of the genotype for UCP3 may thus contribute to assessment of the genetic risk for recurrent in-stent restenosis.     

Association of candidate susceptible loci with chronic infection with hepatitis B virus in a Chinese population

A number of genetic loci have been proposed to be associated with persistent hepatitis B virus (HBV) infection. This study aimed to evaluate the association and interaction of susceptible genes with HBV persistence in a Chinese population. A total of 17 polymorphisms in 9 candidate genes were studied in 361 Chinese chronic hepatitis B patients and 304 patients who recovered spontaneously. Distributions of susceptible polymorphisms were examined in healthy Chinese and Caucasian populations. Gene–gene interactions were tested by the multifactor dimensionality reduction (MDR) method. The TNF ?308 G/G genotype and G allele, IL‐10RB codon 47 A allele, and MCP‐1 ?2518 G/G genotype and G allele were more frequent in patients than controls (P < 0.01, after multiple corrections Pc < 0.05), while the frequencies of TNF ?308 A/G genotype and IL‐10 ?592 A/A genotype were significantly higher in controls than in the patient group (Pc < 0.05). The frequencies of the risk allele MCP‐1 ?2518 G and CTLA4 6230 G were much higher in Chinese than in the Caucasian groups (P < 0.001). An interaction between CCR5 ?2459, TNFA ?863, IL‐10RB codon 47, and MCP‐1 ?2518 was detected by MDR (P = 0.001). The results indicate that genetic determinants may affect the outcome of HBV infection in both independent and synergic manners. J. Med. Virol. 82:371–378, 2010. © 2010 Wiley‐Liss, Inc.     

西北地区人群JAG2基因多态性与非综合征性唇腭裂的相关性研究

目的探讨JAG2基因多态性与西北地区人群非综合征性唇腭裂(nonsyndromic cleft lip with or without cleft palate,NSCLP)的相关性。方法采用病例-对照研究方法,选取NSCLP患者301例,正常对照304人,采用iMLDR™基因分型技术对JAG2基因的3个单核苷酸多态性(single nucleotide polymorphism,SNP)位点[rs741859(T/C)、rs11621316(A/G)以及rs1057744(C/T)]进行分型,比较其等位基因、基因型及所构建的单倍型在两组人群中的分布差异。结果rs741859位点等位基因C和T在NSCLP组和对照组中的分布差异有统计学意义。rs741859位点CT基因型可将NSCLP的患病风险显著降低至65%(P<0.05),将唇裂伴或不伴腭裂(cleft lip with or without cleft palate,CL/P)的患病风险降低至62%(P<0.05);而rs11621316、rs1057744处于同一连锁不平衡(linkage disequilibrium,LD)区域,连锁程度较高(r2>0.8),其基因型、等位基因在两组中的分布差异无统计学意义(P>0.05)。结论JAG2基因rs741859位点CT基因型可能是中国西北人群NSCLP的保护性基因型。