2型糖尿病家系患者LEPR基因Gln223Arg多态性的研究

目的:研究黑龙江地区汉族人2型糖尿病家系的LEPR基因Gln223Arg多态性,探讨其与2型糖尿病发病的关系。方法:应用聚合酶链式反应-限制性内切酶长度多态性(PCR-RFLP)技术,对来自于黑龙江地区120个2型糖尿病家系中的210例2型糖尿病患者及319例正常对照的LEPR基因Gln223Arg(668 A→G)位点进行基因分型。结果:LEPR基因Gln223Arg三种基因型在病例组和对照组间整体分布有统计学意义(P=0.034,df=2);除AG基因型(x2=4.550,P<0.01)外,其余各基因型及等位基因在病例组和对照组间分布未见显著性差异(P>0.05)。结论:LEPR基因Gln223Arg多态性与黑龙江地区汉族人2型糖尿病有关,LEPR基因可能为中国人2型糖尿病发病的相关易感基因。     

2型糖尿病家系患者LEPR基因Gln223Arg多态性的研究

目的：研究黑龙江地区汉族人2型糖尿病家系的LEPR基因Gln223Arg多态性,探讨其与2型糖尿病发病的关系。方法：应用聚合酶链式反应-限制性内切酶长度多态性（PCR-RFLP）技术,对来自于黑龙江地区120个2型糖尿病家系中的210例2型糖尿病患者及319例正常对照的LEPR基因Gln223Arg（668 A→G）位点进行基因分型。结果：LEPR基因Gln223Arg三种基因型在病例组和对照组间整体分布有统计学意义（P=0.034,df=2）;除AG基因型（x2=4.550,P〈0.01）外,其余各基因型及等位基因在病例组和对照组间分布未见显著性差异（P〉0.05）。结论：LEPR基因Gln223Arg多态性与黑龙江地区汉族人2型糖尿病有关,LEPR基因可能为中国人2型糖尿病发病的相关易感基因。     

贵州黑山羊和黔北麻羊LEPR基因第7、8、10和18外显子的多态性分析

为探究LEPR基因的遗传多态性,丰富山羊LEPR基因的研究,本研究以贵州黑山羊和黔北麻羊为试验材料,运用DNA池结合直接测序方法进行LEPR基因SNPs位点的筛选,从而对突变的SNPs位点进行RNA二级结构以及所编码蛋白质的二级结构和三级结构进行生物信息学分析。在试羊LEPR基因中共发现4个SNPs,分别为Exon7-T81C(同义突变)、Exon8-C39T(同义突变)、Exon10-A70G(Asn-Ser)和Exon18-C94T(Ser-Leu)。分析表明,4个位点突变前后的等位基因频率、mRNA二级结构的最小自由能、LEPR蛋白质二级结构和三级结构均有改变。结果表明,LEPR基因拥有较为丰富的遗传多态性。     

贵州白山羊LEPR基因多态性

为探究LEPR基因多态性的遗传特性,本研究以贵州白山羊为试验材料,运用DNA池结合直接测序方法进行LEPR基因的SNPs位点的筛选,继而对LEPR基因RNA的二级结构以及其所编码蛋白质的二级结构和三级结构进行生物信息分析。结果表明,在试验群体LEPR基因中共发现4个SNPs,分别为exon4-G246A(Asp-Asn)、exon8-C39T(同义突变)、intron8-G59A(内含子突变)和exon18-C94T(Ser-Leu)。经生物信息学软件分析表明,exon4-G246A(Asp-Asn)和exon18-C94T(Ser-Leu)位点突变前后的等位基因频率、LEPR m RNA的二级结构、LEPR蛋白质二级结构和三级结构均有改变。     

亚甲基四氢叶酸还原酶基因C677T、G1793A 单核苷酸多态性 与散发性乳腺癌易感性的关系

目的:研究亚甲基四氢叶酸还原酶(MTHFR)基因C677T、G1793A位点单核苷酸多态性与散发性乳腺癌易感性关系。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,对200例乳腺癌患者及200例正常对照者MTHFR基因C677T、G1793A位点单核苷酸多态性进行分析,logistic回归分析不同基因型与乳腺癌风险的关系。结果:乳腺癌组MTHFR 677TT基因型频率为25.00%显著高于正常对照组的10.50%(X2=14.401,P=0.001),CT基因型频率为44.50%低于正常对照组的54.50%,CC基因型频率在乳腺癌组和正常对照组中无差别;MTHFR 1793GA基因型频率为18.50%显著高于正常对照者的8.50%(X2=8.563,P=0.003)。乳腺癌患者MTHFR 677T和1793A等位基因频率分别为47.25%、9.25%,显著高于对照组中的37.75%、4.25%。MTHFR 677TT基因型携带者罹患乳腺癌的风险是677CC基因型携带者的2.732倍(95%CI=1.418～5.051,P=0.001),MTHFR1793GA基因型携带者罹患乳腺癌的风险是1793GG基因型携带者的2.444倍(95%CI=1.325～4.505,P=0.003)。另外,乳腺癌组中MTHFR C677T基因多态性与肿瘤大小相关(x2=7.431,P=0.024,MTHFR G1793A基因多态性与淋巴结转移情况(x2=8.939,P=0.011)、癌组织学分级(x2=9.983,P=0.007)相关。结论:MTHFR C677T、G1793A基因多态性与散发性乳腺癌的易感性相关。     

亚甲基四氢叶酸还原酶基因C677T、G1793A单核苷酸多态性与散发性乳腺癌易感性的关系

目的：研究亚甲基四氢叶酸还原酶（MTHFR）基因C677T、G1793A位点单核苷酸多态性与散发性乳腺癌易感性关系。方法：采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法,对200例乳腺癌患者及200例正常对照者MTHFR基因C677T、G1793A位点单核苷酸多态性进行分析,logistic回归分析不同基因型与乳腺癌风险的关系。结果：乳腺癌组MTHFR 677TT基因型频率为25.00%显著高于正常对照组的10.50%（X2=14.401,P=0.001）,CT基因型频率为44.50%低于正常对照组的54.50%,CC基因型频率在乳腺癌组和正常对照组中无差别;MTHFR 1793GA基因型频率为18.50%显著高于正常对照者的8.50%（X2=8.563,P=0.003）。乳腺癌患者MTHFR 677T和1793A等位基因频率分别为47.25%、9.25%,显著高于对照组中的37.75%、4.25%。MTHFR 677TT基因型携带者罹患乳腺癌的风险是677CC基因型携带者的2.732倍（95%CI=1.418～5.051,P=0.001）,MTHFR1793GA基因型携带者罹患乳腺癌的风险是1793GG基因型携带者的2.444倍（95%CI=1.325～4.505,P=0.003）。另外,乳腺癌组中MTHFR C677T基因多态性与肿瘤大小相关（x2=7.431,P=0.024,MTHFR G1793A基因多态性与淋巴结转移情况（x2=8.939,P=0.011）、癌组织学分级（x2=9.983,P=0.007）相关。结论：MTHFR C677T、G1793A基因多态性与散发性乳腺癌的易感性相关。     

中国汉人纤维蛋白原β链基因-148C/T,-455G/A多态性与冠心病关系的Meta分析

有关中国汉人纤维蛋白原β链基因多态性与冠心病关系的研究屡见报道,但不同的研究之间结果存在一定的差异.本研究根据相应的入选条件,通过文献检索收集中国汉人纤维蛋白原β链基因-148C/T,455G/A多态性与冠心病关系的病例-对照研究,剔除不符合要求的文献,对入选文献进行一致性检验并根据检验结果进行数据合并荟萃(Meta)分析,计算总OR值.共13篇文献符合要求纳入研究,其中7篇关于-148C/T多态性研究包括1488例冠心病患者和1234例对照人群,9篇关于-455G/A多态性的研究包括1023名患者和1081名对照者,入选研究无明显发表偏倚,入选研究的同质性检验显示各研究结果间存在明显的异质性,数据合并结果显示-148C/T多态性位点C/T T/T比C/C的OR值为1.31,95%CI为0.94~1.84(P=0.11),-455G/A多态性位点G/A A/A比G/G的OR值为1.75,95%CI为1.24~2.46(P=0.001).本研究的初步结果显示纤维蛋白原β链基因-455G/A多态性与中国汉人冠心病易感性相关,-455A等位基因可能是冠心病的遗传易感基因,-148C/T基因多态性与中国汉人冠心病易感性无明显关系.     

雌激素受体α(ESR1)基因PvuⅡ和XbaI位点基因多态性与HBV慢性感染的相关性研究

摘要 目的：探讨雌激素受体ESR1(Estrogen Receptor alpha gene)基因的PvuⅡ(rs2234693)和XbaI (rs9340799)两个单核苷酸多态性(single nucleotide polymorphisms, SNPs)位点的基因多态性与乙型肝炎病毒HBV(Hepatitis B Virus)慢性感染的相关性,为控制HBV持续感染提供新的思路和科学依据。方法：选择107例慢性乙型病毒性肝炎患者为病例组及107例同期体检的健康人群为对照组,基于高分辨熔解曲线技术(High Resolution Melting,HRM)建立PCR-HRM分子诊断方法,检测其雌激素受体ESR1基因两个SNP位点rs2234693(T>C)和rs9340799(A>G)的基因多态性,并通过基因测序进一步验证,探讨上述两个SNP位点与HBV慢性感染的相关性。结果：病例组和健康对照组ESR1基因rs2234693(T>C)位点的基因型频率比较差异具有统计学意义(P<0.05),而两组间rs2234693位点等位基因频率比较差异没有统计学意义(P>0.05);病例组和健康对照组间ESR1基因rs9340799(A>G)位点的各基因型频率差异具有统计学意义(P<0.05),慢性乙肝病例组GG基因型明显升高,两组间rs9340799位点等位基因频率差异亦具有统计学意义(P<0.05)。Logistic回归分析显示rs9340799位点的G基因可增加HBV慢性感染的发病风险,A基因可降低HBV慢性感染的发病风险。结论：雌激素受体基因ESR1的rs9340799 (A>G)位点的GG基因型和G等位基因可能是HBV感染慢性化的遗传易感基因,GG基因型与HBV的慢性感染具有一定的相关性。     

北极狐GHR基因单核苷酸多态性及其与生长性状的相关性分析

文章采用单链构象多态性(PCR-SSCP)和DNA测序的方法检测了北极狐生长激素受体(Growth hormne receptor, GHR)基因的单核苷酸多态性(SNPs), 并针对该群体的特点建立合适的统计分析模型, 对GHR基因多态性与生长性状的相关性进行了分析。结果表明, 在北极狐GHR基因的外显子1和外显子5上发现了4个多态位点, 分别为5′UTR上的G3A和外显子1上的C99T突变, 外显子5上的T59C和G65A突变; GHR基因G3A和C99T多态性与母狐的体重性状显著相关(P<0.05), T59C和G65A多态性与公狐的体重性状显著相关(P<0.05), 与母狐的皮张长度性状极显著相关(P<0.01)。因此, 可以利用以上点突变对北极狐的体重及皮张长度性状进行标记辅助选择研究, 以达到快速选育出快大、优质的北极狐的目的。     

美洲黑貂5-HT1A受体基因多态性与自咬行为的相关性

以美洲黑貂(Mustela vison)5-羟色胺1A(5-HT1A)受体基因作为影响其自咬行为的可能候选基因,分析该基因对美洲黑貂自咬行为的影响.本实验采用单链构象多态性(PCR-SSCP)方法进行了多态性检测,并对该基因的不同基因型与自咬行为的关系进行分析.结果表明,在美洲黑貂群体中5-HT1A受体基因136位点发生碱基突变(T-G)的SNPs对美洲黑貂自咬行为性状无影响(χ2=1.393 6,P0.2),在287位点发生(C-G)突变对美洲黑貂的自咬行为有一定的影响(χ2=3.769 4,P<0.2).     

Leptin expression and leptin receptor gene polymorphisms in growth hormone deficiency patients

Growth hormone deficiency (GHD) patients have lower weight, height, bone age, insulin-like growth factor 1 (IGF-1) levels, GH levels, fat metabolism and skeletal growth. The association of leptin with GHD characteristics and the effect of gene variants of leptin on GHD are unknown. Our aim was to examine the association of circulating leptin levels and common genetic variants in leptin (LEP) and leptin receptor (LEPR) genes with anthropometric measures, circulating hormone concentrations and GHD. A case control study of 125 GHD cases and 159 control subjects were characterized for bone age, body mass index (BMI), height, weight, leptin, IGF-1, GH and their genotype at the leptin promoter G-2548A, and LEPR variants, K109R and Q223R, at Chung Shan Medical University Hospital. Leptin levels were significantly associated with lower bone age, weight and BMI in GHD patients. Leptin levels were also significantly associated with reduced IGF-1 levels in girls but not boys in both groups. The frequency of LEPR223 [A/G or A/A] genotype was significantly higher than the LEPR223 G/G genotype in the GHD group. The LEPR223 [A/G or A/A] genotype was significantly associated with increased weight and BMI in the control group, but not in the GHD group. In conclusion, the GHD group carried a significantly higher frequency of the LEPR [G/A or A/A] genotype and of the A allele (LEPR223R). The LEPR223R polymorphism affected weight and BMI in control, but not in GHD patients, suggesting that the effect of LEPR223 [A/G or A/A] genotype was counteracted by other factor(s) in GHD patients.     

LEPR p.Q223R, beta3-AR p.W64R and LEP c.-2548G>A gene variants in obese Brazilian subjects

Obesity is due to the combined effects of genes, environment, lifestyle, and the interactions of these factors. The adrenergic receptor beta3 (beta3-AR), leptin (LEP) and leptin receptor (LEPR) genes have been intensively evaluated in the search of variants that could be related to obesity and its cardiometabolic complications. The results of most of these studies have been controversial. In the present study, we investigated the relationship of the beta3-AR p.W64R, LEP c.-2548G>A and LEPR p.Q223R gene variants with body mass index (BMI), in Brazilian subjects of different genetic backgrounds and ethnic origins. Two hundred obese patients (60 males, 140 females, BMI > or = 30 kg/m2) were screened and compared to 150 lean healthy subjects (63 males, 87 females, BMI < or = 24 kg/m2). Genomic DNA was extracted and amplified by polymerase chain reaction. Polymerase chain reaction products were digested with specific restriction enzymes and separated by electrophoresis. There was no significant difference in the genotype frequency of the beta3-AR p.W64R and the LEP c.-2548G>A polymorphisms, between lean and obese subjects. However, the genotype and allele frequencies of the LEPR p.Q223R variant were significantly different between the normal weight and obese groups. Haplotype analysis has shown an association between the G/G allelic combination of c.-2548G>A LEP and c.668A>G LEPR, in obese subjects. Our results suggest that genetic variability in the leptin receptor is associated with body weight regulation, the LEPR p.Q223R variant being related to BMI increase. The haplotype combination of LEP c.-2548G>A and LEPR p.Q223R variants was related to a 58% increase in obesity risk.     

Leptin −2548 G/A polymorphisms are associated to clinical progression of oral cancer and sensitive to oral tumorization in nonsmoking population

Oral cancer is causally associated with environmental carcinogens, and the susceptibility to carcinogen-mediated tumorigenesis is proposed to be genotype-dependent. Leptin (LEP) and leptin receptor (LEPR) both play a crucial role in the mediation of physiological reactions and carcinogenesis and may serve as a candidate biomarker of oral cancer. The current case-control study aimed to examine the effects of LEP −2548 G/A (rs7799039), LEPR K109R (rs1137100), and LEPR Q223R (rs1137101) single-nucleotide polymorphisms (SNPs) with or without interacting to environmental carcinogens on the risk for oral squamous cell carcinoma. The SNPs of three genetic allele, from 567 patients with oral cancer and 560 healthy controls in Taiwan were analyzed. The results shown that the patients with polymorphic allele of LEP −2548 have a significant low risk for the development of clinical stage (A/G: adjusted odds ratio [AOR] = 0.670, 95% confidence interval [CI] = 0.454-0.988, P < 0.05; A/G + G/G: AOR = 0.676, 95% CI = 0.467-0.978, P < 0.05) compared to patients with ancestral homozygous A/A genotype. In addition, an interesting result was found that the impact of LEP −2548 G/A SNP on oral carcinogenesis in subjects without tobacco consumption is higher than subjects with tobacco consumption. These results suggest that the genetic polymorphism of LEP −2548 G/A (rs7799039), LEPR K109R (rs1137100), and LEPR Q223R (rs1137101) were not associated to the susceptibility of oral cancer; SNP in LEP −2548 G/A showed a poor clinicopathological development of oral cancer; population without tobacco consumption and with polymorphic LEP −2548 G/A gene may significantly increase the risk to have oral cancer.     

The 223A>G polymorphism of the leptin receptor gene is associated with macroangiopathy in type 2 diabetes mellitus

To determine whether leptin receptor (LEPR) 223A>G polymorphism has an effect on the plasma leptin levels and the macroangiopathic complications in type 2 diabetes mellitus (T2DM). The genotypes and allelic frequencies of the LEPR 223A>G were examined with polymerase chain reaction and restriction fragment length polymorphism in 301 patients with T2DM and 172 unrelated healthy subjects. The plasma concentrations of leptin were determined in all subjects. The mean plasma leptin levels in the T2DM group were significantly higher than that of controls and the plasma levels of leptin were higher in diabetic patients with macroangiopathy than in patients without macroangiopathy (P < 0.05). The genotype (GG, AG and AA) distribution of 223A>G polymorphism was 58.3, 32.5, and 9.2% in diabetic patients with macroangiopathy, 75.3, 22.1, and 2.6% in patients without macroangiopathy, and 70.3, 27.5, 2.2% in controls respectively, a significant difference was found between diabetic patients with and without macroangiopathy (P < 0.05). The frequency of the allele A was higher in patients with macroangiopathy than in patients without macroangiopathy (25.6 vs. 16.3%; P < 0.05). Moreover, the plasma leptin levels were markedly higher in patients with AA genotype than those with AG or GG genotype in patients with macroangiopathy (P < 0.05). The LEPR 223A>G gene polymorphism associated with a predisposition to increased plasma leptin levels could constitute a useful predictive marker for diabetic macroangiopathy.     

Estrogen receptor-alpha gene haplotype is associated with primary knee osteoarthritis in Korean population

Estrogen and estrogen receptors (ERs) are known to play important roles in the pathophysiology of osteoarthritis (OA). To investigate ER-alpha gene polymorphisms for its associations with primary knee OA, we conducted a case-control association study in patients with primary knee OA (n = 151) and healthy individuals (n = 397) in the Korean population. Haplotyping analysis was used to determine the relationship between three polymorphisms in the ER-alpha gene (intron 1 T/C, intron 1 A/G and exon 8 G/A) and primary knee OA. Genotypes of the ER-alpha gene polymorphism were determined by PCR followed by restriction enzyme digestion (PvuII for intron 1 T/C, XbaI for intron 1 A/G, and BtgI for exon 8 G/A polymorphism). There was no significant difference between primary knee OA patients and healthy control individuals in the distribution of any of the genotypes evaluated. However, we found that the allele frequency for the exon 8 G/A BtgI polymorphism (codon 594) was significantly different between primary knee OA patients and control individuals (odds ratio = 1.38, 95% confidence interval = 1.01-1.88; P = 0.044). In haplotype frequency estimation analysis, there was a significant difference between primary knee OA patients and control individuals (degrees of freedom = 7, chi2 = 21.48; P = 0.003). Although the number OA patients studied is small, the present study shows that ER-alpha gene haplotype may be associated with primary knee OA, and genetic variations in the ER-alpha gene may be involved in OA.     

Associations among Lipids, Leptin, and Leptin Receptor Gene Gin223Arg Polymorphisms and Breast Cancer in China

We evaluated the relationship among the leptin receptor (LEPR) gene Gln223Arg polymorphism, body mass index (BMI), waist and hip circumference ratio (WHR), dietary structure, lifestyle, and other biomarkers with breast cancer and determined whether they could be effective for the prevention and treatment of breast cancer. The Gln223Arg polymorphisms in the LEPR gene were investigated in blood deoxyribonucleic acid (DNA) available for 240 breast cancer cases and 500 controls. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism. Leptin, insulin were determined by enzyme-linked immunosorbent assays. We found that the serum levels of leptin, insulin, triglyceride (TG), free cholesterol (FCH), apolipoprotain (APO) A1, and BMI were significantly higher in breast cancer cases than the controls, while physical activity was clearly less in breast cancer cases (P < 0.02 approximately P < 0.001, respectively). Moreover, there were significant association between the Gln223Arg genotype and breast cancer risk; homozygotes for AA and heterozygotes for AG,AG + GG genotypes had been proved to increase the risk of breast cancer, and their corresponding odds ratio were 7.14 (95% confidence interval [CI] = 1.92-25.64), 1.33(95% CI = 1.03-2.70), and 2.04 (95% CI = 1.09-3.82). Interestingly, logistic regression analysis showed that LEPR gene Gln223Arg polymorphism and elevated leptin, insulin, TG, FCH, APOA1, WHR, and reduced APOB increased the risk of developing breast cancer, respectively. And, it also suggested that LEPR gene Gln223Arg polymorphisms, elevated leptin, insulin, TG, FCH, APOA1, WHR, and reduced APOB should play a major role in the development of breast cancer.     

G-2548A polymorphism of the leptin gene is correlated with extreme obesity in Taiwanese aborigines

We examined the genetic associations of the G-2548A polymorphism in the promoter of the leptin (LEP) gene and the Gln223Arg (Q223R) polymorphism of the leptin receptor (LEPR) gene with obesity. Two hundred twenty-six obese aboriginal subjects (BMI > or = 27 kg/m2) and 182 aboriginal subjects with normal weight (BMI < 25 kg/m2) participated in this study. The polymorphisms of LEP G-2548A and LEPR Q223R were genotyped by polymerase chain reaction/restriction fragment length polymorphism, and their anthropometric characteristics were measured. Levels of leptin, triglycerides, and cholesterol were measured after overnight fasting. We found that the frequencies of the LEP G/G homozygote (22.6%) with Mendelian recessive (chi2 = 7.89, p = 0.005) and codominant (chi2 = 7.93, p = 0.02) models to be higher in the extremely obese subjects (BMI > or = 35 kg/m2) than in normal weight subjects (6.9%) but not in moderately obese subjects (35 > BMI > or = 27 kg/m2). There was no difference in genotypic frequency of the LEPR Q223R polymorphism between the extreme obese and control groups. We suggest that the LEP -2548 G/G homozygote plays a genetic recessive role in the development of extreme obesity in Taiwanese aborigines.     

Report on the Molecular Approaches to Osteoarthritis Symposium,Imperial College London,UK, 18–20 April 2004

Estrogen and estrogen receptors (ERs) are known to play important roles in the pathophysiology of osteoarthritis (OA). To investigate ER-α gene polymorphisms for its associations with primary knee OA, we conducted a case–control association study in patients with primary knee OA (n = 151) and healthy individuals (n = 397) in the Korean population. Haplotyping analysis was used to determine the relationship between three polymorphisms in the ER-α gene (intron 1 T/C, intron 1 A/G and exon 8 G/A) and primary knee OA. Genotypes of the ER-α gene polymorphism were determined by PCR followed by restriction enzyme digestion (PvuII for intron 1 T/C, XbaI for intron 1 A/G, and BtgI for exon 8 G/A polymorphism). There was no significant difference between primary knee OA patients and healthy control individuals in the distribution of any of the genotypes evaluated. However, we found that the allele frequency for the exon 8 G/A BtgI polymorphism (codon 594) was significantly different between primary knee OA patients and control individuals (odds ratio = 1.38, 95% confidence interval = 1.01–1.88; P = 0.044). In haplotype frequency estimation analysis, there was a significant difference between primary knee OA patients and control individuals (degrees of freedom = 7, χ² = 21.48; P = 0.003). Although the number OA patients studied is small, the present study shows that ER-α gene haplotype may be associated with primary knee OA, and genetic variations in the ER-α gene may be involved in OA.     

瘦素受体基因Lys109Arg 多态性与慢性阻塞性肺疾病营养状况的关系

目的:探讨瘦素受体基因Lys109Arg多态性与慢性阻塞性肺疾病营养状况的关系。对象与方法:观察159例COPD稳定期患者及110例健康对照者体重指数(BMI)、理想体重百分比(NW%)、三头肌皮皱厚度(TSF)、上臂中点臂围(MAC)、血清白蛋白(ALB)、总淋巴细胞(LYM)等营养参数,将COPD组分为营养不良组(COPD1组)68例,COPD非营养不良组(COPD2组)91例。用酶联免疫吸附试验(ELISA)法测定血清瘦素水平,采用聚合酶链式反应及连接酶检测反应方法(PCR-LDR)测定瘦素受体Lysl09Arg多态性的基因型。结果:COPD1组Lys109Arg基因型GG、GA及AA的频率分别为0.838、0.147和0.015,G和A等位基因分别为0.912和0.088;COPD2组Lys109Arg基因型GG、GA及AA的频率分别为0.67、0.319和0.011,G和A等位基因分别为0.83和0.17;对照组Lys109Arg基因型GG、GA及AA的频率分别为0.7、0.273和0.027,G和A等位基因分别0.841和0.159;COPD1组Lys109Arg基因型及等位基因频率与COPD2组和对照组比较差异有显著性;COPD2组和对照组比较差异无显著性。GG型受试者血清瘦素水平低于A/G型+AA型(39.08±15.79ng/ml vs 43.29±17.25ng/ml),但差异无统计学意义。结论:瘦素受体基因Lys109Arg多态性可能与COPD营养状况相关。