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Objective:To identify potentially pleiotropic genes for lean body mass ( LBM ) and age at menarche ( AAM).Methods:The discovery sample consisted of 1 692 unrelated female subjects of European ancestry.The replication sample consisted of 801 unrelated female subjects of Han Chinese ancestry.A total of 909,622 single nucleotide polymorphisms (SNPs) were genotyped in both samples with the Affymetrix genome-wide genotyping array SNP 6.0.Bivariate genome-wide association analyses were then performed to the appendicular LBM and AAM.Results: Two SNP rs1860547 and rs11030746 identified by the bivariate GWAS were significant at the genome-wide significance (GWS) level;their P-values were <0.05 after replications.In the upstream of rs1860547, two genes KCNA1 and KCNA5 were found to be important for both LBM and AAM.In the downstream of rs11030746, one gene KCNA4 was found.Univariate GWAS also identified both SNPs to be significant at the GWS level; their P-values were <0.05 after replications.In the upstream of rs1860547 , two genes KCNA1 and KCNA5 are found to be important for LBM.In the downstream of rs11030746 , one gene KCNA4 was found.Conclusion:KCNA1, KCNA4 and KCNA5 are likely to be pleiotropic genes closely related to both LBM and AAM in European females.
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Objective To explore the relationship between FABP2 54 gene polymorphism and serum lipid levels in different ethnic patients with coronary heart disease.Methods We collected fasting blood from participants,then extracted DNA from whole blood,and detected lipids from serum.We performed 54A/T FABP2 genotyping for participants in the case and the control groups by polymerase chain reaction (PCR) and DNA restriction enzyme digestion techniques.Results ( 1 ) In Hans population with coronary heart disease,the allelic frequency of point in 54T gene was 0.542,and 54A gene was 0.458 ; in urban Mongolian with coronary heart disease,the allelic frequency of point in 54T gene was 0.708,and that of 54A gene was 0.292.The allelic frequency of point in 54T and 54A genes were 0.284 and 0.716 respectively in the Han population control group and 0.353 and 0.647 respectively in the normal urban Mongolian group.Compared with the control groups,mutant 54T allele frequency in the case groups of Han and urban Mongolian was significantly higher ( Han:x2 =14.967,P ＜ 0.05 ; Mongolian:x2 =28.083,P ＜ 0.05 ).Compared with the Han Chinese population with coronary heart disease,the mutant 54T allele frequency in urban Mongolian with coronary heart disease was significantly (x2 =7.111,P ＜ 0.05 ).There was no significant difference in mutant 54T allele frequency between the Mongolian control group and the Han control group ( x2 =3.392,P ＞ 0.05 ).( 2 ) Patients with coronary heart disease who carry Thr54 ( + ) had a significantly higher level of fasting plasma TG [ CC Thr54 (-):( 1.89 ± 0.57 ) mmol/L,CC Thr54 ( + ):( 3.92 ± 1.63 ) mmol/L; CM Thr54 (-):(2.23 ± 0.13 ) mmol/L,CM Thr54 ( + ):(4.03 ± 1.14) mmol/L; Hans:P =0.001,Mongolian:P =0.035 ],and LDL-C [ CC Thr54 (-):( 3.09 ± 0.92) mmol/L,CC Thr54 ( + ):(4.05 ± 1.14 ) mmol/L ; CM Thr54 (-):( 4.26 ± 0.08 ) mmol/L,CM Thr54 ( + ):( 5.10 ± 0.56 ) mmol/L; Hans:P =0.025,Mongolian:P =0.045 ] than those with Thr54 (-).Conclusion (1) Threre is FABP2 gene polymorphism in urban Mongolian and Han population.Gene mutation frequency is in accordance with Hardy-Weinberg law of genetic equilibrium,suggesting the sample group representative.(2) FABP2 polymorphism may have a certain contribution to dyslipidemia in patients with coronary heart disease.FABP2 gene polymorphism may be associated with coronary heart disease.Individuals of Mongolian with FABP2 Thr54( + ) has a higher risk of coronary heart disease.
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Objective To investigate relationship between Ala 54 Thr polymorphism in the intestinal fatty acid-binding protein (I-FABP) and plasma lipids in old people.Methods We collected fasting blood samples of selected groups,then we extracted DNA from whole blood,and detected lipids from serum.The 54A/T I-FABP genotypes were analyzed in 72 Han Chinese elderly by polymerase chain reaction (PCR) and DNA restriction enzyming.Total cholesterol (TC),triglyceride (TG),high density lipoprotein (HDL-C) and low-density lipoprotein (LDL-C) were detected.Genotype subgroups were Thr54 (-) and Thr54 (+) groups (36 cases for each).Results Compared with Thr54 (-) genotype group,Thr54 (+) genotype group had higher levels of plasma TC[(4.50±0.73) mmol/L vs.(5.48±0.49)mmol/L],TG[(1.08±0.48) mmol/L vs.(2.02±0.53)mmol/L],LDL-C [(3.10±0.44) mmol/L vs.(3.50±0.66)mmol/L],and had lower level of HDL-C [(1.14±0.25) mmol/L vs.(0.96±0.23)mmol/L](t=-6.67,-7.84,-3.03,3.05,all P＜0.05).
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Purpose:The study was designed to investigate the feasibility of contrast-enhanced ultrasound in the differentiation of benign and malignant adnexal masses.Materials and Methods:Sixty-nine consecutive patients with adnexal masses received trans vaginal contrast-enhanced ultrasound.The image and perfusion features were assessed.Results:All of 26 malignant tumors showed detectable contrast enhancement,including 24 cases with a quick,heterogeneous or branching pattern.Among 39 benign lesions,24 were cystic with circle or half-circle enhancement,including 5 cases with intra-cystic septum or papillae slightly enhanced.The other 15 cases were solid,8 of them had slightly dotted enhancement.There are significant difference in enhancement patterns between benign and malignant masses ( P < 0.0001).The 4 cases of borderline tumors showed progressive,heterogeneous enhancement.Conclusion:Contrast-enhanced ultrasound is of value in the differentiation of benign and malignant adnexal masses.