<Emphasis Type="Italic">MTNR1B</Emphasis> rs10830963 is associated with fasting plasma glucose,HbA<Subscript>1C</Subscript>and impaired beta-cell function in Chinese Hans from Shanghai

Background  

Genome-wide association studies (GWAS) in White Europeans have shown that genetic variation rs10830963 in melatonin receptor 1B gene (MTNR1B) is associated with fasting glucose and type 2 diabetes, which has also been replicated in several Asian populations. As a variant in the gene involved in the regulation of circadian rhythms, the effect of the variant on sleep status remains unknown. This study aimed to investigate the effects of MTNR1B rs10830963 on fasting glucose, type 2 diabetes and sleep status in Chinese Hans.     

First evidence of genetic association between the MIF-173G/C single-nucleotide polymorphisms and polycystic ovary syndrome

Citation Li C, Qiao B, Zhan Y, Qi W, Chen Z‐J. First evidence of genetic association between the MIF‐173G/C single‐nucleotide polymorphisms and polycystic ovary syndrome. Am J Reprod Immunol 2011; 66: 416–422 Problem The purpose of this study was to investigate whether polymorphism of MIF gene is associated with PCOS. Method of study The MIF‐173G/C single‐nucleotide polymorphism (SNP) was detected in 529 PCOS patients and 585 healthy female controls of Chinese Han ancestry. The association of the gene variants with clinical and metabolic parameters and hormone levels was investigated. Results The frequencies of genotypes and allelotypes of the MIF‐173G/C SNP did significantly differ between women with PCOS and healthy controls (P = 0.017 and P = 0.003, respectively). They did significantly differ between obese PCOS patients and obese controls (P = 0.029 and P = 0.039, respectively). The MIF‐173 CC and CG genotypes were associated with higher body mass index (BMI) and waist‐to‐hip ratio (WHR) in both PCOS patients (P < 0.001, P = 0.001) and normal controls (P < 0.001, P = 0.002). The PCOS patients with CC and CG genotypes had higher fasting plasma glucose levels (P < 0.001), higher fasting insulin levels (P < 0.001), and higher HOMA‐IR (P < 0.001) compared with patients with the GG genotype. Conclusion The MIF‐173G/C polymorphism is associated with PCOS in Chinese Han women and may contribute to the phenotypic expression of PCOS.     

TNFRSF13B基因中SNP rs11078355与中国东北地区颅内动脉瘤的相关研究

目的探讨肿瘤坏死因子受体13B基因(TNFRSF13B)中SNP rs11078355G>A在中国东北地区散发颅内动脉瘤发生中所起的作用。方法应用PCR-RFLP方法从100例颅内动脉瘤患者和116例健康对照者的外周血中提取TNFRSF13B基因单核苷酸多态性rs11078355G>A的基因型,所有数据应用SPSS13.0统计学软件进行统计。结果在100例颅内动脉瘤患者中,63%在40-59岁之间;TNFRSF13B基因SNP rs11078355G>A基因型与颅内动脉瘤的发病危险密切相关(P=0.034,OR=1.870);在病例组与对照组之间,性别差异具有明显不同(P=0.036,OR=1.794),女性多于男性;空腹血糖的增高和高血压是颅内动脉瘤发生的危险因素(P<0.001,OR=4.114;P=0.005,OR=2.161);在年龄≥65岁的颅内动脉瘤患者中,TNFRSF13B基因SNP rs11078355 GA+AA基因型的频率明显高于GG基因型。结论TNFRSF13B基因可能与中国东北地区颅内动脉瘤相关;空腹血糖增高和高血压是颅内动脉瘤发生的危险因素;等位基因A可能是在老年人中除外老年性疾病导致颅内动脉瘤的独立危险因素。     

Polymorphism of the follistatin gene in polycystic ovary syndrome

Follistatin has been reported as a candidate gene for polycystic ovary syndrome (PCOS) from linkage and association studies. Acting to regulate the development of ovarian follicles and as an antagonist to aromatase activity, alterations in follistatin function or expression may result in key features of PCOS such as reduced serum FSH, impaired ovarian follicle development and augmented ovarian androgen production. We investigated polymorphisms in the FST gene to determine if genetic variation is associated with susceptibility to PCOS or key phenotypic features of PCOS patients in a case-control association study. One hundred and seventy-three PCOS patients of Caucasian descent (mean age 30.0 +/- 4.8 years), conforming to the NIH diagnostic criteria, were recruited from a clinical practice database and 107 normal ovulating women (mean age 38.8 +/- 13.4 years) were recruited from the general community as control subjects. Morphometric data, biochemistry and genomic DNA were collected from study subjects and genotyping was performed on seven Single nucleotide polymorphisms (SNPs) in the FST gene region. Allele frequencies of the SNPs were rs1423560 G/C (0.99/0.01), rs3797297 C/A (0.80/0.20), rs11745088 C/G (0.98/0.02), rs3203788 A/T (0.98/0.02) and rs1062809 G/C (1.00/-), rs1127760 A/T (0.98/0.02) and rs1127761 A/T (0.98/0.02), and these were not significantly different between the PCOS and control groups (P < 0.05). Statistical analysis revealed significant associations between the SNP rs3797297 and sex hormone-binding globulin (P = 0.04) and free androgen index (FAI) (P < 0.01). We conclude that FST is not a susceptibility locus for PCOS; however, the SNP rs3797297 from FST gene was associated with androgenic markers for PCOS and may be of importance in the hyperandrogenaemia of the disease.     

Association between type 2 diabetes genetic susceptibility loci and visceral and subcutaneous fat area as determined by computed tomography

Visceral fat accumulation has an important role in the development of several metabolic disorders, such as type 2 diabetes, dyslipidemia and hypertension. New genetic loci that contribute to the development of type 2 diabetes have been identified by genome-wide association studies. To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we genotyped 1279 Japanese subjects (556 men and 723 women), who underwent computed tomography for measurements of visceral fat area (VFA) and subcutaneous fat area (SFA) for the following single-nucleotide polymorphisms (SNPs): NOTCH2 rs10923931, THADA rs7578597, PPARG rs1801282, ADAMTS9 rs4607103, IGF2BP2 rs1470579, VEGFA rs9472138, JAZF1 rs864745, CDKN2A/CDKN2B rs564398 and rs10811661, HHEX rs1111875 and rs5015480, TCF7L2 rs7901695, KCNQ1 rs2237892, KCNJ11 rs5215 and rs5219, EXT2 rs1113132, rs11037909, and rs3740878, MTNR1B rs10830963, DCD rs1153188, TSPAN8/LGR5 rs7961581, and FTO rs8050136 and rs9939609. None of the above SNPs were significantly associated with VFA. The FTO rs8050136 and rs9939609 risk alleles exhibited significant associations with body mass index (BMI; P=0.00088 and P=0.0010, respectively) and SFA (P=0.00013 and P=0.00017, respectively). No other SNPs were significantly associated with BMI or SFA. Our results suggest that two SNPs in the FTO gene are associated with subcutaneous fat accumulation. The contributions of other SNPs are inconclusive because of a limitation of the sample power.     

A novel SNP at exon 17 of INSR is associated with decreased insulin sensitivity in Chinese women with PCOS

To investigate the association of single-nucleotide polymorphisms (SNPs) in exon 17 of the insulin receptor (INSR) gene with insulin resistance and INSR beta-subunit expression in polycystic ovary syndrome (PCOS) patients, a case-control study was carried out in an academic endocrinology clinic of China. One hundred and nine Chinese patients with PCOS and 107 healthy Chinese women as control were recruited. Their leukocytes and red blood cells were separated from blood samples, for SNP analysis with single-stranded conformation polymorphism and for the INSR beta-subunit expression detection by western blot analysis, respectively. A novel T/C SNP at codon Cys1008 (position 3128 of NM_000208) of INSR was found in two allele genotypes, i.e. the homozygous CC and the heterozygous TC. A higher frequency of the mutant homozygous CC was observed in the PCOS women with PCOS than that in the controls (21.1 versus 5.6%, P < 0.01). In contrast with the women with wild-type genotype, a significantly lower insulin sensitivity index in the women with each of the two mutant genotypes was revealed (CC: 0.335 +/- 0.026/TC: 0.346 +/- 0.027 versus TT: 0.367 +/- 0.029, P < 0.05). No relationship was found between the novel SNP and the INSR beta-subunit expression. We concluded that the novel T/C SNP at codon Cys1008 of INSR is associated with decreased insulin sensitivity in Chinese women with PCOS and that the association is not by the change of synthesis or secretion of INSR beta-subunit, but most possibly by the effects of this novel SNP on the function of INSR beta-subunit.     

ESR1 rs9340799 Is Associated with Endometriosis-Related Infertility and In Vitro Fertilization Failure

Estrogen receptor alpha has a central role in human fertility by regulating estrogen action in all human reproductive tissues. Leukemia inhibitory factor (LIF) expression, a cytokine critical for blastocyst implantation, is mediated by estrogen signaling, so we hypothesized that ESR1 gene polymorphisms might be candidate risk markers for endometriosis-related infertility and in vitro fertilization (IVF) failure. We included 98 infertile women with endometriosis, 115 infertile women with at least one IVF failure and also 134 fertile women as controls. TaqMan SNP assays were used for genotyping LIF (rs929271), MDM2 (rs2279744), MDM4 (rs1563828), USP7 (rs1529916), and ESR1 (rs9340799 and rs2234693) polymorphisms. The SNP ESR1 rs9340799 was associated with endometriosis-related infertility (P < 0.001) and also with IVF failure (P = 0.018). After controlling for age, infertile women with ESR1 rs9340799 GG genotype presented 4-fold increased risk of endometriosis (OR 4.67, 95% CI 1.84–11.83, P = 0.001) and 3-fold increased risk of IVF failure (OR 3.33, 95% CI 1.38–8.03, P = 0.007). Our results demonstrate an association between ESR1 rs9340799 polymorphism and infertile women with endometriosis and also with women who were submitted to IVF procedures and had no blastocyst implantation.     

广西人群白细胞介素17A基因rs3819024和rs1974226的多态性

目的 探讨白细胞介素17 A（IL-17A）基因rs3819024和rs1974226多态性在广西人群中的分布特点,比较不同种族和地区人群间两位点基因型和等位基因频率的差异。 方法 采用SNaPshot SNP技术和DNA测序法,检测443例广西人rs3819024和rs1974226 多态性,统计分析两位点基因型和等位基因频率与国际人类基因组单体型图计划公布的北京汉族人群（HapMap-CHB）、日本人群（HapMap-JPT）、欧洲人群（HapMap-CEU）和非洲人群（HapMap-YRI）的差异。结果 广西人群rs3819024存在 GG、GA和AA 3种基因型,而rs1974226存在CC、CT和TT 3种基因型,两位点基因型和等位基因频率在不同性别间比较,差异均无统计学意义(P>0.05)。广西人群rs3819024 基因型和等位基因频率与HapMap-CHB人群比较,差异均无统计学意义（P>0.05）,然而与 HapMap-JPT、HapMap-CEU和HapMap-YRI人群比较,差异均有统计学意义（P<0.01）。而广西人群rs1974226基因型和等位基因频率与HapMap-CHB和HapMap-JPT人群比较,差异均无统计学意义（P>0.05）,然而与HapMap-CEU和HapMap-YRI人群比较,差异均有统计学意义（P<0.05）。 结论 广西人群存在IL-17A基因rs3819024和rs1974226多态性,与其他种族和地区人群比较存在不同程度的差异。     

AQP7和AQP9基因多态性与中国汉族人群2型糖尿病的相关性研究CSCD

目的探讨水通道蛋白7(aquaporin 7, AQP7)以及水通道蛋白9(aquaporin 9, AQP9)基因单核苷酸多态性(single nucleotide polymorphism, SNP)与中国汉族人群患2型糖尿病(type 2 diabetes mellitus, T2DM)的相关性。方法随机纳入1194例T2DM个体和1274例非糖尿病个体(non-diabetic, NDM)进行对照研究, 采用MassArray质谱基因分型方法对3个SNP位点(AQP7基因rs3758269、AQP9基因rs16939881和rs57139208)进行基因分型。评估以上3个SNP位点与T2DM的相关性;探讨NDM组SNP位点处不同基因型与糖脂代谢指标的关联。结果 AQP7基因rs3758269、AQP9基因rs16939881和rs57139208的等位基因频率及基因型频率在T2DM组和NDM组中的分布无统计学差异(P > 0.05);且分析结果显示不同遗传模式与T2DM无相关性(P > 0.05)。在NDM组中, AQP7基因rs3758269、AQP9基因rs16939881和rs57139208的不同基因型与糖脂代谢指标无相关性(P > 0.05)。结论 AQP7基因rs3758269和AQP9基因rs16939881和rs57139208与中国汉族人群T2DM遗传易感性无关。     

Interleukin 28A.rs12980602 and interleukin 28B.rs8103142 genotypes could be protective against HCV infection among Egyptians

Previous studies showed that interleukin (IL)-28B gene polymorphisms were associated with hepatitis C Virus (HCV) infection and treatment outcomes. We tested whether single-nucleotide polymorphisms (SNPs) in IL-28A and IL-28B are associated with HCV infection among Egyptians with HCV genotype 4 infections. We enrolled 144 chronic HCV patients, 72 spontaneously resolved HCV subjects, and 69 healthy controls. Four SNPs in IL-28A and IL-28B genes (IL-28A.rs12980602, IL-28B.rs12979860, IL-28B.rs8099917, and IL-28B.rs8103142) were genotyped. The most frequent IL-28B haplotype “TCT” was significantly more frequent in HCV-infected subjects than in HCV negative subjects (62.2% vs. 48.6%, respectively; p = 0.005). The frequency of IL-28A.rs12980602 “T” allele was significantly higher than the “C” allele in healthy controls compared to HCV-infected subjects (p < 0.001) with the “TT” genotype significantly higher in healthy controls compared to HCV-infected subjects (p < 0.001) with no association with viral load (p = 0.11) among chronically infected subjects. The results, also, confirmed the previous role of IL-28B SNPs in predicting HCV infection outcome. Importantly, IL-28B.rs8099917 “TT” genotype was significantly associated with low viral load in HCV-infected subjects, while the remaining three SNPs did not. The three IL-28B SNPs were in linkage disequilibrium (D′ > 0.68; r² > 0.43) for all comparisons in HCV patients, while there was no linkage disequilibrium of IL-28A polymorphisms and the three IL-28B SNPs. In conclusion, IL-28A.rs12980602 and IL-28B.rs8103142 TT genotype could be protective against HCV infection. Also, IL-28B.rs12979860, IL-28B.rs8099917, and IL-28B.rs8103142 SNPs predicted the outcome of HCV infection among genotype-4-infected Egyptians. Moreover, IL-28B.rs8099917 SNP affected the viral load in chronic HCV patients.

     

β2肾上腺素受体基因Arg16Gly位点多态性与华南人群哮喘相关性研究

目的探讨β2肾上腺素受体基因(ADRB2)SNP位点rs1042713即突变位点Arg16Gly的多态性与华南汉族人群支气管哮喘发病的相关性。方法采用病例对照研究,利用基质辅助激光解吸电离飞行时间质谱技术(MALDI-TOF-MS)对rs1042713进行基因分型,对实验结果运用χ2检验和二分类Logistic回归进行统计学相关性分析。结果 rs1042713多态位点AA、AG、GG 3种基因型在哮喘患者的频率为18.7%、76.0%和5.3%,与对照组(33.8%,44.6%和21.6%)相比具有显著差异(χ2=36.28,P<0.001);对年龄和性别进行校正后,发现相对于AA+GG基因型,携带AG基因型的哮喘发病风险增加(OR=4.37,95%CI:2.64~7.23)。结论华南汉族人群哮喘的发病机制可能与SNP rs1042713位点的单核苷酸多态性有关,杂合子基因型AG为其发病的危险因素。     

雌激素受体1 基因rs2046210 位点多态性与乳腺癌患病风险性关系初步研究

目的: 探讨雌激素受体1 基因(Estrogen receptor 1,ESR1) 周围区域单核苷酸多态(Single nucleotide polymorphism,SNP)位点rs2046210 与女性乳腺癌发生的相关性。方法:选取114 例乳腺癌患者的组织切片和141 例健康对照者的外周血,抽提基因组DNA,采用Taqman 探针法检测SNP 位点rs2046210 的基因型,计算基因型与基因频率,先检测Hardy-Weinberg 平衡性,然后采用字2 检验进行组间比较。结果:经检测rs2046210 等位位点T、C 及其三种基因型CC、TC、TT 均符合Hardy-Weinberg 平衡性定律,具有群体代表性(字2 值分别为2.78、2.95,v=1,P 均>0.05)。等位位点T、C 在乳腺癌组的分布频率为43.40%、56.60%,在健康组的分布频率为38.30%、61.70%。两组比较差异无统计学意义(P<0.05),该位点等位基因在病例组与对照组的分布无明显差别。多态性位点的三种基因型CC、TC、TT 在乳腺癌的频率分别为35.75%、11.35% 和53.90%,对照组35.96%、22.81%和41.22%,两组间比较差异有显著统计学意义(P<0.05)。进一步比较发现,基因型CC/ TT在两组中分布差异无统计学意义(P>0.05),相对风险比值OR 为1.94(0.92 ~ 4.1,95% CI),基因型CC/ TC 在两组中分布差异无统计学意义(P =0.228>0.05),相对风险比值OR 为0.74(0.43 ~1.28,95%CI),而基因型TT/ TC 在两组中分布差异有显著统计学意义(P =0.008<0.05)。结论:在贵州地区人群,雌激素受体1 基因rs2046210 位点的单核苷酸多态性可能与乳腺癌的遗传易感性相关,特别是rs2046210 TT 基因型可能增加个体患乳腺癌的风险,而CC 基因型降低了乳腺癌的患病风险。     

Association of aromatase (CYP 19) gene variation with features of hyperandrogenism in two populations of young women

BACKGROUND: Aromatase catalyses the conversion of androgens to estrogens and thus variation in the aromatase gene could contribute to female syndromes of androgen excess, such as precocious pubarche (PP) and polycystic ovarian syndrome (PCOS). METHODS: Two groups, one case-control containing girls from Barcelona, Spain with PP (n = 186) or healthy controls (n = 71), and the other a population study of young women from Oxford, UK, who volunteered for a study of normal women's health (n = 109), were genotyped at four aromatase gene haplotype-tag single nucleotide polymorphisms (SNP). Clinical features and hormone concentrations relevant to hyperandrogenism were compared across haplotypes or genotypes. RESULTS: Distributions of aromatase haplotypes (P < 0.0001) and aromatase SNP_50 genotype (P = 0.001) were significantly different between PP girls and Spanish controls. The AGGG haplotype was associated with an odds ratio (95% confidence interval) of 0.5 (0.3-0.9) (P = 0.005) for the presence of PP compared to GAGG. In 84 post-pubertal PP girls, aromatase haplotype was associated with functional ovarian hyperandrogenism (P < 0.05), independently of insulin sensitivity. In the Oxford population, SNP_50 was associated with variation in PCOS symptom score (P = 0.008) and circulating testosterone concentrations (P = 0.02). CONCLUSIONS: This study suggests that common variation at the aromatase gene (and not just rare loss-of-function mutations) is associated with androgen excess in girls and young women.     

TBX21基因rs16947078位点的多态性与哮喘易感性的研究

目的研究TBX21基因的rs16947078位点的多态性与哮喘易感性的关系。方法应用基质辅助激光解吸附电离飞行时间质谱(MALDI-TOF-MS)平台及MassARRAY-IPLEX技术,分别对重庆地区汉族人群中199名正常对照组和223名哮喘患者组的TBX21基因rs16947078位点进行检测并分析其基因型及等位基因分布情况,研究TBX21基因rs16947078位点的多态性与哮喘易感性间的关系。结果 TBX21基因rs16947078位点基因型和等位基因在病例组与对照组间均存在显著差异,P值分别为0.010和0.011;对年龄和性别进行校正后,相对于AA基因型,AG基因型的人群患哮喘的风险增加(OR=9.433,95%CI:1.170~76.022);等位基因G的携带者患哮喘的风险也有所增加(OR=9.232,95%CI:1.152~74.006)。结论研究结果提示TBX21基因中rs16947078位点与哮喘的易感性相关。     

Scavenger Receptor Class B Type 1 Gene rs5888 Single Nucleotide Polymorphism and the Risk of Coronary Artery Disease and Ischemic Stroke: A Case-Control Study

Background: Our previous studies have showed that the rs5888 single nucleotide polymorphism (SNP) in Scavenger receptor class B type 1 (SCARB1) gene is associated with serum lipid levels in the general Chinese populations. The present study was undertaken to detect the associations between rs5888 SNP and the risk of coronary artery disease (CAD) and ischemic stroke (IS).Methods: A total of 1,716 unrelated subjects (CAD, 601; IS, 533; and healthy controls, 582) were included in this study. Genotyping of the rs5888 SNP were determined by polymerase chain reaction and restriction fragment length polymorphism.Results: The genotypic frequencies of SCARB1 rs5888 SNP were different between CAD patients and controls, the subjects with TT genotype had high risk of CAD (OR = 1.76, P = 0.038 for TT vs. CC; and OR = 1.75, P = 0.036 for TT vs. CC/CT). There was no significant association between genotypes and the risk of IS. Further analysis showed that the subjects with TT genotype in the total population had lower levels of high-density lipoprotein cholesterol than the subjects with CC/CT genotypes (P < 0.05), the subjects with TT genotype in controls but not in CAD or IS patients had higher levels of serum LDL-C and ApoB than those with CC genotype (P < 0.05 for each).Conclusions: The present study suggests that the SCARB1 rs5888 SNP influences serum lipid levels, and is associated with the risk of CAD.     

DNMT3B基因启动子单核苷酸多态性与结直肠癌易感性的关联研究

目的通过对天津地区汉族结直肠癌（cRc）患者和正常人群中DNA甲基转移酶3B（DNMT3B）基因单核苷酸多态性（SNP）位点rsl569686基因型的检测,探讨rsl569686位点基因型与CRC易感性的关系。方法应用Sequenom MassArray飞行时间质谱系统检测89例CRC患者（观察组）及94例健康者（对照组）DNMT3B基因多态位点rsl569686的基因分型,判断其与CRC的相关性。结果DNMT3B基因多态位点rsl569686的3种基因型Iq＂、GT、GG在CRC患者中的频率分别为74．2％、24．7％、1．1％,与对照组（73．4％、23．4％、3．2％）相比,差异无统计学意义（P〉O．05）。结论天津汉族人群CRC的遗传易感性可能与DNMT3B基因rsl569686位点的SNP无关。     

中国广西地区健康人群E-选择素基因rs5359A/G、rs4786G/A多态性分析

目的:研究E-选择素基因单核苷酸多态性(SNP)rs5359A/G、rs4786G/A等位基因及其基因型在中国广西地区健康人群中的分布频率,并与其他种族和地区间的分布进行比较。方法:应用单碱基延伸PCR技术和DNA测序方法检测199例中国广西人群E-选择素基因rs5359A/G、rs4786G/A的多态性,并与人类基因组计划(Hapmap)公布的欧洲、非洲、日本和中国北京人群的基因型及等位基因的频率进行比较分析。结果:E-选择素基因rs5359A/G、rs4786G/A存在多态性,其基因型及等位基因频率在广西地区男女组间及与非洲、日本、中国北京人群比较无统计学差异(P>0.05),但与欧洲人群比较差异有统计学意义(P<0.05)。结论:中国广西地区健康人群E-选择素基因rs5359A/G、rs4786G/A存在多态性,与欧洲人群比较存在显著性差异,这种差异对于人类学研究可能起到重要作用。     

Association study of MC4R with complex obesity and replication of the rs17782313 association signal

Recently, genome-wide association studies have discovered several single nucleotide polymorphisms (SNPs) involved in the etiology of complex obesity. A variant downstream from the melanocortin-4 receptor gene (MC4R), a gene known to be involved in monogenic obesity, was reported to be highly associated with BMI. In the present study, we performed a replication study with the previously reported SNP rs17782313. We also included 3 tagSNPs (rs8087522, rs11872992, and rs1943226) for the MC4R gene region in our study to understand the role of this gene in complex obesity. We genotyped all 4 SNPs in a population of 1049 obese cases (mean BMI=38.2±6.2) and 312 healthy lean individuals (mean BMI 22.0±1.7). We could confirm that rs17782313 is highly associated with complex obesity in our population (odds ratio=1.42, 95% CI 1.14-1.77, P=0.002). Furthermore, we found this SNP to be associated with BMI (B=0.92, 95% CI 0.19-1.65, P=0.01) and body weight (B=2.44, 95% CI 0.28-4.60, P=0.03). In addition, we could also detect an association between rs11872992 and complex obesity (odds ratio=0.74, 95% CI 0.57-0.98, P=0.03). Through conditional analysis, we demonstrate that this effect is independent from the rs17782313 association signal. No associations with obesity could be found for rs8087522 and rs1943226. In conclusion, we could replicate the previously reported association between rs17782313 and complex obesity. Furthermore, our data do not support the hypothesis that a SNP in MC4R causes the rs17782313 association signal.     

CDKN2A/2B基因多态性与妊娠糖尿病相关

目的研究CDKN2A/2B基因rs10811661的单核苷酸多态性(SNP),探讨其与妊娠糖尿病(GDM)的相关性。方法选取鲁西南地区正常糖耐量孕妇(NGT)100例、GDM患者120例、2型糖尿病(T2DM)患者100例作为研究对象,提取基因组DNA,采用PCR-RFLP方法检测CDKN2A/2B基因rs10811661多态性。结果 CDKN2A/2B基因rs10811661的TT、TC、CC 3种基因型分布在NGT组与GDM组间有显著差别(P<0.01),GDM组危险等位基因T分布频率显著高于NGT组(P<0.05)。3种基因型及等位基因分布在NGT组与T2DM组之间亦有显著差别(P<0.05)。结论在鲁西南地区女性人群中,CDKN2A/2B基因rs10811661 T/C多态性可能与妊娠糖尿病有明显相关性。