Association of interleukin-10 gene-592C/A polymorphism with concentration of interleukin-10 in children with bronchial asthma / 中华实用儿科临床杂志

Objective To explore the polymorphism of-592C/A of IL-10 gene promoter region in children with bronchial asthma and its relationship with serum concentration of IL-10.Methods Ninety-two children with bronchial asthma and 92 healthy children were selected for study,polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) were used for the analysis of-592C/A of IL-10 promoter region polymorphism.The frequencies of genotypes of IL-10 gene-592 locus (CC,CA and AA) and alleles were accounted respectively,and x2 test was used to analyze the difference between the groups.Enzyme-linked immunosorbent assay (ELISA) was used to measure the concentration of the serum IL-10,and F test and q test were used for statistical analysis.Results Compared with the healthy control group,there were significant differences in-592C/A polymorphism of IL-10 gene in asthma group.The frequencies of AA genotypes (56.5％) and A allele (73.9％) in asthma group were higher than those (34.8％,58.7％)in the control group,there were significant differences(x2 =9.32,P ＜ 0.01 ;x2 =8.87,P ＜ 0.005,respectively).The individuals with AA genotype and A allele were 3.25 (95 ％ CI:1.28-8.28,P ＜ 0.05) and 1.99 (95 ％ CI:1.28-3.08,P ＜0.01) times susceptible to asthma compared with CC genotype and C allele.The serum concentration of IL-10 in asthma group was significantly lower than that in healthy control group,whether in attacking-stage or remission-stage,and there were significant differences (all P ＜ 0.01).The individuals with AA genotypes had lower serum IL-10 concentration than those with CC genotypes (P ＜ 0.05) . Conclusions The IL-10 gene-592C/A polymorphism is different significantly between children with bronchial asthma and healthy ones,and this polymorphism influences the concentration of IL-10.The individuals with AA genotype have relatively lower IL-10 concentration,and A allele may be one of genetic susceptibility factor of bronchial asthma in children.

Association of leptin level and leptin receptor gene polymorphisms with susceptibility to severe pre-eclampsia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To evaluate the association of serum leptin concentrations and polymorphisms of G1019A and A223G of leptin receptor gene (LEPR) with severe pre-eclampsia. MEHTODS: A case-control study was carried out in 207 patients with severe pre-eclampsia (SPE group) and 252 healthy pregnant women (control group) during the third trimester of pregnancy. The serum leptin was determined by enzyme-linked immunosorbent assay. The polymorphisms of LEPR gene G1019A and A223G were detected by polymerase chain reaction restriction-fragment length polymorphism (PCR-RFLP) analysis. Miettinen's test was used to estimate the odds ratios (OR) and 95% confidence intervals (CI).</p><p><b>RESULTS</b>(1) In severe pre-eclampsia group, serum leptin levels and rate of premature infant birth were significantly higher than that in normal pregnant women, and birth weight was lower than that in controls (P<0.01). (2) The frequencies of GA genotype and G allele for LEPR gene G1019A in SPE group (33.8% and 20.3%) were markedly higher than that in controls (19.8% and 15.1%) (P<0.01), and the carriers of GA genotype and G allele were more frequent in SPE group than in control group, resulting in an OR 2.04 (95%CI: 0.77-5.42) and 1.43 (95%CI: 1.02-2.01) to develop severe pre-eclampsia, compared with carriers of AA genotype and A allele. (3) AG genotype and A allele frequencies of LEPR gene A223G in SPE group (19.3% and 12.6%) were significantly lower than that in controls (34.5% and 19.2%) (P<0.01), resulting in an OR of 0.46 (95%CI: 0.30-0.71) and 0.60 (95%CI: 0.42-0.87) to develop severe pre-eclampsia, compared with subjects with GG genotype and G allele. (4) The "1019AA+223AG" genotype frequency was significantly lower in SPE group (6.8%) than in controls (24.6%) (P<0.01), resulting in an OR of 0.22 (95%CI: 0.12-0.39) to develop severe pr-eclampsia, while the "1019AA+223AG" was significantly higher in SPE group (22.2%) than in controls (11.9%) (P<0.05), resulting in an OR of 2.10 (95%CI: 0.78-3.45) to develop severe pre-eclampsia. (5) No significant differences were found in SBP, DBP, BMI and serum leptin levels in subjects with different genotypes in the two groups (P>0.05).</p><p><b>CONCLUSION</b>Elevated serum leptin level and LEPR gene G1019A and A223G polymorphisms might play a role in severe pre-eclampsia, while the level of serum leptin was not associated with genotypes of LEPR gene G1019A and A223G polymorphisms. The genotypes GA and "1019AA+223AG"of G1019A may be genetic susceptibility factors to severe pre-eclampsia.</p>

Association of PAI-1 gene polymorphism with prognosis of coronary artery disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the association of the 4G/5G polymorphism located in the promoter region of plasminogen activator inhibitor-1(PAI-1) gene with prognosis of coronary artery disease (CAD) in Chinese Hans.</p><p><b>METHODS</b>One hundred and fifty five patients with CAD and 190 unrelated healthy control individuals were included in the study. The 4G/5G polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. A follow-up survey of major adverse cardiovascular event (MACE) and analysis of the relationship between the severity of coronary vessels and PAI-1 gene polymorphism were carried out.</p><p><b>RESULTS</b>(1) The frequency of 4G/4G genotype of PAI-1 gene was higher in CAD patients than in controls (58/155, 37.42% vs 52/190, 27.37%, P< 0.01). (2) The frequency of 4G/4G genotype of PAI-1 in patients with MACE was higher than that in patients without MACE (40/81, 49.38% vs 18/74, 23.42%; P< 0.01). (3) The frequency of 4G/4G genotype in patients with multivessel disease was higher than that in patients with single-vessel disease (30/47, 44.77% vs 9/37, 24.32%; P< 0.05).</p><p><b>CONCLUSION</b>The 4G/5G polymorphism located in the promoter region of PAI-1 gene was associated with prognosis of CAD patients, and may be regarded as a biomarker of the severity of the involved vessels.</p>

Association of genetic polymorphism in plasminogen activator inhibitor-1 gene with endometrial hypoplasia in infertile women / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the relationship between the plasminogen activator inhibitor (PAI-1) polymorphisms and endometrial hypoplasia in infertile women.</p><p><b>METHODS</b>The study was conducted in 105 primary infertile patients with endometrial hypoplasia diagnosed by pathology and the thickness of endometrium by B-mode ultrasound and 85 controls who were not pregnant and had normal fertility. The -675 4G/5G polymorphism in the PAI-1 gene was detected by polymerase chain reaction-restriction fragment length polymerphim analysis.</p><p><b>RESULTS</b>The frequencies of 4G/4G genotype and 4G allele of the PAI-1 gene were higher in the patient group (48.6% and 66.2%) than in the normal controls (22.4% and 47.1%) (P < 0.01). ThePAI-1 4G/4G genotype was significantly associated with endometrial hypoplasia in the infertile patients (OR=4.9, 95% CI: 2.10-10.12).</p><p><b>CONCLUSION</b>The present findings suggest that the 4G/5G polymorphism of the PAI-1 gene was associated with endometrial hypoplasia in infertile patients.</p>

Association between angiotensin-converting enzyme and endothelial nitric oxide synthase gene polymorphism and risk of coronary artery disease / 中华心血管病杂志

<p><b>OBJECTIVE</b>To observe the association between angiotensin-converting enzyme (ACE) gene polymorphism and endothelial nitric oxide synthase (eNOS) gene polymorphism and risk of coronary artery disease (CAD) in Han Chinese.</p><p><b>METHODS</b>The polymorphism in the ACE and eNOS gene were detected by using polymerase chain reaction-restriction fragment length polymorphism analysis, blood pressure (BP), blood lipids, blood glucose (BS), body mass index (BMI) and left ventricle eject fraction (LVEF) were determined 236 patients with CAD and 190 healthy individuals.</p><p><b>RESULTS</b>The frequencies of DD genotype of ACE were higher and the II genotype were lower in CAD patients than in controls (P < 0.05). CAD patients with DD genotypes were related with higher serum TG, lower HDL-C, higher BS levels, higher BWI and lower LVEF compared to CAD patients with II and ID genotypes of ACE (all P < 0.05), while SBP, DBP, TC and LDL-C levels were similar among CAD patients and controls with different genotypes of ACE (P > 0.05). The genotype distributions of ACE and eNOS were also similar among CAD patients with or without diabetes mellitus/ACS, with single or multiple vessel diseases (P > 0.05). The frequency of GT genotype of eNOS was higher in CAD patients than in controls (P < 0.01) while the frequency of GG genotype in CAD patients and controls was similar (P > 0.05) and eNOS genotypes were not related to TC, TG, HDL-C, LDL-C, BS, BMI, SBP, DBP and LVEF levels among CAD patients and controls (P > 0.05). The risk of suffering from CAD in population with ACE DD genotype is 1.74 times higher than that with II genotype (P < 0.01) and 1.73 times higher in population with eNOS GT genotype than that with GT genotype (P < 0.05). The risk of suffering from CAD is 37.9% with II and GG genotypes and 77.8% with DD and GT genotypes.</p><p><b>CONCLUSION</b>The ACE and eNOS genotype polymorphisms were associated with risk of CAD and persons with DD and GT genotypes take higher risk of suffering from CAD.</p>

Association of genetic polymorphisms in plasminogen activator inhibitor-1 gene and 5,10-methylenetetrahydrofolate reductase gene with recurrent early spontaneous abortion / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the relationship of plasminogen activator inhibitor-1 (PAI-1) gene-675 4G/5G and methylenetetrahydrofolate reductase(MTHFR) gene C677T polymorphisms to recurrent early spontaneous abortion(RESA).</p><p><b>METHODS</b>One hundred and twenty-seven currently non-pregnant women with at least 3 unexplained spontaneous abortions during the first trimester of pregnancy (patient group). Normal control group consisted of 117 currently non-pregnant women with at least 1 pregnancy and without a history of prematurity, miscarriage, stillbirth, eclampsia and other pregnancy complications. The genotypes of PAI-1 gene and MTHFR gene were assessed by polymerase chain reaction-restrictive fragment length polymorphism.</p><p><b>RESULTS</b>The frequencies of 4G/4G genotype and 4G allele of PAI-1 were higher in patient group (45.7% and 66.1%) than in normal controls (17.1% and 46.6%) (P < 0.01). The PAI-1 4G/4G genotype was significantly associated with RESA (OR = 4.8, 95% CI: 2.23 - 10.35). Besides, MTHFR gene T/T genotype and T allele frequencies were increased in RESA patients (43.3% and 66.5%) versus normal controls (21.4% and 52.6%) (P < 0.01). The patients carrying T/T genotype had a high risk of early spontaneous abortion (OR = 3.2, 95% CI: 1.40 - 7.30). In additionìthe presence of the PAI-1 gene 4G/4G genotype together with the T/T genotype of the MTHFR gene was found to be a risk factor (OR = 6.20, 95% CI: 2.62 - 14.67) for RESA greater than the 4G/4G genotype or the T/T genotype alone.</p><p><b>CONCLUSION</b>The above findings suggest that genetic polymorphisms of PAI-1 4G/5G and MTHFR C677T were associated with RESA. They may have synergetic impact and present gene dosage effect on the susceptibility to the development of early spontaneous abortion.</p>

Relationship between the 4G/5G polymorphism of the plasminogen activator inhibitor-1 gene and the pathogenesis of pregnancy-induced hypertension syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the relationship between a single nucleotide insertion/deletion(4G/5G) polymorphism located in the promoter region of the plasminogen activator inhibitor-1(PAI-1) gene and the pathogenesis of pregnancy-induced hypertension syndrome(PIHs).</p><p><b>METHODS</b>The 4G/5G polymorphism of PAI-1 gene in 171 PIHs patients (PIHs group) and that in 193 normal pregnant women (control group) were detected by a combination of polymerase chain reaction-restriction fragment length polymorphism.</p><p><b>RESULTS</b>(1)The genotype frequencies of PAI-1 gene in PIHs group were 47.4% for 4G/4G, 41.5% for 4G/5G, and 11.1% for 5G/5G. The 4G/4G genotype and 4G allele frequencies of PAI-1 gene(47.4% and 0.681) for PIHs patients were higher than those (21.2% and 0.495) for normal controls respectively (P<0.001). (2)Both the 4G/4G genotype and the 4G allele of PAI-1 gene occurred more frequently in the severe PIHs group(61.3% and 0.758) than those (35.8% and 0.623) in the mild PIHs group respectively (P<0.001). However, there were no significant differences between those in mild group (35.8% and 0.623) and moderate group(42.8% and 0.625) respectively. (3) The 4G/4G genotype was significantly associated with PIHs (OR=3.34, 95%CI: 2.14-5.22).</p><p><b>CONCLUSION</b>These findings suggested that PAI-1 gene polymorphism may be a susceptible factor to the pathogenesis of PIHs and the 4G/4G genotype may be one of the major risk factors for PIHs in pregnant women.</p>