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PubMedDate not supplied

Gene polymorphism association studies in dialysis: bone and mineral metabolism.

Abnormalities in bone and mineral metabolism have a significant impact on morbidity and mortality among patients with end-stage renal disease (ESRD). In addition to confounding environmental factors, genetic susceptibility factors may also influence the occurrence and severity of these abnormalities and account for interindividual variability among patients. Indeed, polymorphisms involving genes of the calcium/parathyroid hormone/calcitriol axis have been associated with bone and mineral metabolism abnormalities. This review summarizes studies involving polymorphisms of candidate genes and their effects on the development of complications related to bone and mineral metabolism abnormalities among patients with ESRD.

Bone Density↗
PubMed2005

Is GST gene polymorphism a risk factor in developing exfoliation syndrome?

PURPOSE: To evaluate the distribution of GSTM1, GSTP1, and GSTT1 gene polymorphisms in exfoliation syndrome (XFS) and the possible associations between the presence of exfoliation syndrome and glutathione S-transferase (GST) gene polymorphisms. METHODS: Using a real-time polymerase chain reaction, GSTM1, GSTP1, and GSTT1 gene polymorphisms were detected in 60 patients with exfoliation syndrome, among which 71.7% had exfoliative glaucoma (43 patients), 16.7% had XFS with elevated intraocular pressure (IOP) (10 patients), and 11.7% had XFS only (7 cases), and in 65 otherwise healthy control group of similar age. RESULTS: Although the exfoliation syndrome group presented a higher prevalence of the GSTM1 null and GSTP1 Ile/Val genotypes than the control group, this increase was not statistically significant. GSTT1 null and GSTP1 Val/Val polymorphisms were also not different among groups. The risk of exfoliation syndrome was not increased as the number of putative high-risk genotypes increase (p = 0.73). CONCLUSIONS: GSTM1, GSTP1, and GSTT1 gene polymorphisms were not different among exfoliation syndrome patients, with or without glaucoma, and the controls therefore GSTM1, GSTP1, and GSTT1 gene polymorphisms did not seem to be associated with the risk of development of exfoliation syndrome.

Aged↗
PubMed2005

[Plasminogen activator inhibitor-1 (PAI-1) 4G/5G and angiotensin converting enzyme (ACE) I/D gene polymorphisms and fibrinolytic activity in patients with essential hypertension and dyslipidemia].

Essential arterial hypertension often predisposes patients to prothrombotic state and increased risk of vascular and organ complications. Vital role in regulation of hemostatic processes is played by genetic factors, renin-angiotensin system and disorders of lipid metabolism. Prime genetic factors involved in the process are 4G/5G polymorphism of promoter region coding tissue plasminogen activator inhibitor-1 (PAI-1) and I/D polymorphism for angiotensin converting enzyme (ACE) gene. The aim of work was the evaluation of alterations within fibrinolysis system (estimation of t-PA and PAI-1 levels), fibrinogen concentration (Fb) and ACE activity with regard to co-existent dyslipidemia and features of left ventricle hypertrophy (LVH). Moreover the analysis of influence of 4G/5G PAI and I/D ACE gene polymorphism on intensification of aforementioned alterations among hypertensive patients was performed. Research was carried out in 170 subjects under 40 years old, in two study groups, HT-- hypertensive group--125 patients with previously untreated hypertension without clinical features of ischaemic heart disease and NT--45 normotensive, healthy subjects. HT group has been further divided into four subgroups: DLP (dyslipidemic, n = 51), NLP (normolipidemic n = 74), LVH+ (with features of left ventricle hypertrophy, n = 35), LVH (-) (without features of left ventricle hypertrophy, n = 90). In a whole HT group significantly higher levels of PAI-1, t-PA and Fb were noted in comparison to NT group, considerably more pronounced within DLP rather than NLP subgroups. Moreover, pronounced increase in ACE activity was recorded in DLP and LVH+ subgroups. It has been proved that 4G/4G homozygous subjects of 4G/5G PAI-1 gene polymorphism from HT group tend to present higher levels of PAI-1 and t-PA if contrasted to 4G/4G genotype of NT group, with more distinct effect within DLP subgroup. Carriers of D allele (genotypes I/D, D/D) of I/D ACE gene polymorphism from HT group characterise with significantly higher activity of ACE in contrast to I/I genotype of HT group, with particularly marked effect in DLP and LVH+ subgroups. Basing on above mentioned results it may be concluded that essential hypertension (especially if complicated with dyslipidemia) impairs fibrinolysis, what might be related to renin-angiotensin system activation in lipid metabolism disorders. Deletion alleles of 4G/5G polymorphism (4G allele) and I/D polymorphism (D allele) in patients with hypertension independently modify fibrinolysis towards prothrombotic state with more distinct effect in dyslipidemia. Increased activity of ACE in D allele carriers may predispose to left ventricle hypertrophy.

Adult↗
PubMed2005

F2-Isoprostane level is associated with the angiotensin II type 1 receptor -153A/G gene polymorphism.

Recent studies have shown that F2-isoprostane levels-a marker for lipid peroxidation-are increased in human renovascular hypertension but not in essential hypertension. Angiotensin II specifically stimulates F2-isoprostane production through activation of the AT1 receptor. The objective was to determine whether there is a relationship between the level of oxidative stress evaluated by measuring urinary F2-isoprostanes levels and polymorphisms of genes involved in the renine angiotensin aldosterone system (RAAS) regulation. The population studied included 100 subjects, 65 of whom were healthy normotensives; the other 35 were suffering from untreated, essential hypertension. The polymorphisms studied concern the genes encoding angiotensin I-converting enzyme (ACE/in16del/ins), angiotensin II receptor type I (AGTR1/A+39C[A+1166C] and AGTR1/A-153G), angiotensinogen (AGT/M235T), and aldosterone synthase (CYP11B2/T344C). Oxidative stress was evaluated by measuring urinary F2-isoprostanes levels. The characteristics of the population were as follows: men/women = 46/56; age = 50 +/- 10 years; BMI = 24 +/- 3 kg/m2; SBP = 131.7 +/- 17.2 mm Hg; DBP = 84.6 +/- 10.4 mm Hg. In univariate analysis, urinary F2-isoprostane levels were significantly lower in the presence of the G allele of AGTR1/A-153G (56 +/- 17 vs 76 +/- 39 pmol/mmol creatinine; P < 0.001, and P < 0.01 after Bonferroni correction for 10 tests). In multivariate analysis, taking into account BP, age, gender, BMI, plasma glucose, and total cholesterol, the G allele of AGTR1/A-153G is linked independently to urinary F2-isoprostanes level (P < 0.01). Our data suggest that F2-isoprostane level depends at least in part on the A-153G polymorphism of the angiotensin II AT1 receptor gene. The clinical and prognostic relevance of this polymorphism requires further investigation.

Adult↗
PubMed2005

Association of ghrelin receptor gene polymorphism with bulimia nervosa in a Japanese population.

Eating disorders (EDs) have a highly heterogeneous etiology and multiple genetic factors might contribute to their pathogenesis. Ghrelin, a novel growth hormone-releasing peptide, enhances appetite and increases food intake, and human ghrelin plasma levels are inversely correlated with body mass index. In the present study, we examined the 171T/C polymorphism of the ghrelin receptor (growth hormone secretagogue receptor, GHSR) gene in patients diagnosed with EDs, because the subjects having ghrelin gene polymorphism (Leu72Met) was not detected in a Japanese population, previously. In addition, beta3 adrenergic receptor gene polymorphism (Try64Arg) and cholecystokinin (CCK)-A receptor (R) gene polymorphism (-81A/G, -128G/T), which are both associated with obesity, were investigated. The subjects consisted of 228 Japanese patients with EDs [96 anorexia nervosa (AN), 116 bulimia nervosa (BN) and 16 not otherwise specified (NOS)]. The age- and gender-matched control group consisted of 284 unrelated Japanese subjects. The frequency of the CC type of the GHSR gene was significantly higher in BN subjects than in control subjects (chi(2) = 4.47, p = 0.035, odds ratio = 2.05, Bonferroni correction: p = 0.070), while the frequency in AN subjects was not different from that in controls. The distribution of neither beta3 adrenergic receptor gene nor CCK-AR polymorphism differed between EDs and control subjects. Therefore, the CC type of GHSR gene polymorphism (171T/C) is a risk factor for BN, but not for AN.

Adult↗
PubMed2000

Lack of an association of estrogen receptor alpha gene polymorphisms and transcriptional activity with Alzheimer disease.

BACKGROUND: Long-term cognitive decline in postmenopausal women is associated with aging and Alzheimer disease (AD). Estrogen replacement therapy has been reported to reduce the risk of developing AD. The distribution of estrogen receptors (ERs) in neurons overlaps that of the brain neurons known to develop AD. Estrogen increases the secretion and metabolism of amyloid precursor protein, may help synapse formation, and is reported to protect neurons from toxins. Restriction fragment length polymorphisms (RFLPs) of the ERalpha gene at intron 1 and exon 2 were associated with a low bone mineral density in postmenopausal women and also with AD in a Japanese population. OBJECTIVE: To determine whether ERalpha gene polymorphisms are associated with transcriptional activity and AD. METHODS: A luciferase reporter assay analyzed enhancer activity of the ERalpha gene at intron 1 and exon 2. This activity was evaluated according to the RFLPs. The RFLPs of the ERalpha gene were determined in Japanese patients clinically diagnosed as having AD, white patients diagnosed as having AD at autopsy, and corresponding healthy control subjects. The RFLPs were also evaluated for the contribution of the ERalpha gene RFLPs to AD. RESULTS: We found weak (about 2-fold) enhancer activity of the ERalpha gene, which differed among RFLPs. Although there were racial differences in these polymorphisms, we could not confirm the previously reported association between ERalpha gene polymorphisms and AD. CONCLUSION: Regulatory element of the ERalpha gene was found in intron 1, but we found no association between ERalpha gene polymorphisms and AD.

Aged↗
PubMed2001

Apolipoprotein E gene polymorphism and its association with human longevity in the Uygur nationality in Xinjiang.

OBJECTIVE: To study the relationship between apoE alleles and life-span. METHODS: Apolipoprotein E genotypes were determined in 164 unrelated Uygurs including 35 persons aged 90 years or older, 71 men aged 20-35 and 54 men with myocardial infarction by using polymerase chain reaction-restriction fragment length polymorphism. Apolipoprotein E gene polymorphism was analyzed among three groups. RESULTS: There was statistically significant difference in the epsilon 4 allele frequencies among three groups. The epsilon 4 allele frequency in olds was the lowest (0.057), while in patients suffering from myocardial infarction (MI) was the highest (0.213). In MI patients the average age of first attack in epsilon 4 allele carriers was significantly younger than that of non-carries, 51.3 and 58.3 years, respectively (P < 0.05). CONCLUSION: ApoE genotype may have some impact on human longevity.

Adult↗
PubMed2005

Nucleotide excision repair gene polymorphisms and recurrence after treatment for superficial bladder cancer.

PURPOSE: Interindividual differences in DNA repair capacity not only modify individual susceptibility to carcinogenesis, but also affect individual response to cancer treatment. Nucleotide excision repair (NER) is one of the major DNA repair pathways in mammalian cells involved in the removal of a wide variety of DNA lesions. Polymorphisms in NER genes may influence DNA repair capacity and affect clinical outcome of bladder cancer treatment. EXPERIMENTAL DESIGN: To test the influence of NER gene polymorphisms on superficial bladder cancer outcome (recurrence and progression), we conducted a follow-up study of 288 patients with superficial bladder cancer. Median follow-up among patients who were recurrence-free at the end of observation was 21.7 months from diagnosis. The specific polymorphic loci examined include XPA [A/G at 5' untranslated region (UTR)], XPC (poly AT, Ala(499)Val, Lys(939)Gln), XPD (Asp(312)Asn, Lys(751)Gln), XPG (His(1104)Asp), ERCC 1 (G/T at 3' UTR), and ERCC6 (Met(1097)Val, Arg(1230)Pro). RESULTS: The ERCC6 (Met(1097)Val) polymorphism had a significant impact on recurrence: carriers of at least one variant allele (Val) had a significantly higher recurrence risk than carriers of the wild-type allele (Met/Met; hazard ratio, 1.54; 95% confidence interval, 1.02-2.33). There were no overall statistically significant differences in the distributions of the other polymorphisms between patients with and without recurrence. However, when we combined these variant genotypes, there was a significant trend for an increased recurrence risk with an increasing number of putative high-risk alleles. Using individuals with five or fewer putative high-risk alleles as the reference group, individuals with six to seven risk alleles and individuals with eight or more risk alleles had higher recurrence risks, with hazard ratios of 0.92 (0.54-1.57) and 2.53 (1.48-4.30), respectively (P for trend < 0.001). There was also a significant trend for shorter recurrence-free survival time with increasing number of variant alleles (log rank test, P = 0.0007). When we stratified the patients according to intravesical Bacillus Calmette-Guerin treatment, we found a significant trend for shorter recurrence-free survival time in patients with variant alleles of XPA or ERCC6 polymorphisms who received Bacillus Calmette-Guerin treatment (log rank test, P = 0.078 and 0.022, respectively). There were no significant individual or joint associations between these polymorphisms and progression. CONCLUSIONS: These data suggest that interindividual differences in DNA repair capacity may have an important impact on superficial bladder cancer recurrence. A pathway-based approach is preferred to study the effects of individual polymorphism on clinical outcomes.

Aged↗
PubMed1998

Estrogen receptor gene polymorphism is associated with bone mineral density in premenopausal women but not in postmenopausal women.

In the present study, we examined the genotypes distribution of Pvu II estrogen receptor (ER) gene polymorphism and its association to bone mass in Thai females. Subjects consisted of 134 Thai females 54 of whom were premenopausal and 80 were postmenopausal. Pvu II ER gene polymorphism was determined by PCR-RFLP. Capital P represents the absence of the restriction site while small p indicates the presence of the restriction site. Forty nine (36.6%) of the subjects had pp genotype, while 59 (44.0%) had Pp genotype and 26 (19.4%) had PP genotype. There was no significant difference in age, body weight, height and calcium intake in premenopausal women with different genotypes. The results including years since menopause were similar in postmenopausal women. When including ER gene genotypes, age, body weight, height and dietary calcium intake in a stepwise multiple regression model, it was found that besides body weight ER gene polymorphism was associated with bone mineral density (BMD) at AP spine (p < 0.05), lateral spine (p < 0.05) femoral neck (p < 0.05) and femoral trochanter (p < 0.05) with the pp genotype having the least BMD. ER gene polymorphism was the only factor associated with BMD at Ward's triangle, (p < 0.05) while only body weight was associated with BMD at distal and mid radius. There was no difference in serum intact osteocalcin (OC) concentrations among subjects with different genotypes. ER gene polymorphism was not related to BMD in postmenopausal women at any skeletal site. Similarly, serum intact OC levels were not different among postmenopausal women with different genotypes. We concluded that Pvu II estrogen receptor gene polymorphism is associated with bone mineral density in premenopausal women but not in postmenopausal women. Estrogen receptor gene polymorphism may have a modulatory role in calcium and bone metabolism during adolescence and young adulthood.

Adult↗
PubMed2004

Lack of association between vitamin D receptor gene polymorphism (BsmI) and osteomalacia.

Vitamin D receptor (VDR) gene polymorphism has been reported to be a determinant of bone formation and intestinal calcium absorption. We carried out this study to assess the role of VDR gene polymorphism in the pathogenesis of osteomalacia. We investigated BsmI polymorphisms in the gene encoding the 1,25 dihydroxyvitamin D receptor in 38 patients with osteomalacia and 31 healthy controls, along with examination of serum calcium, phosphorus, alkaline phosphatase, parathyroid hormone, and 25 hydroxyvitamin D levels. VDR allelic variants were: BB, 31.6%; Bb, 44.7%; and bb, 23.7% in the osteomalacia patients and BB, 19.4%; Bb, 61.3%; and bb, 19.4% in the controls. Although heterozygotes (Bb) were more frequent than other genotypes in both groups, the BB genotype was found to be more prevalent in osteomalacia than in controls. There was no statistical relationship between VDR genotype and osteomalacia. It is concluded that, in this small group of patients, there was no relationship between VDR allelic polymorphisms and osteomalacia.

Adult↗
PubMed2002

[Interleukin (IL)-1beta, IL-1 receptor antagonist and IL-4 gene polymorphisms in ulcerative colitis in the Chinese].

OBJECTIVE: To study whether the Chinese ulcerative colitis (UC) patients are associated with interleukin (IL)-1beta, IL-1RA and IL-4 gene polymorphisms and to analyze the relationship among gene polymorphisms, antineutrophil cytoplasmic antibodies (ANCA) and clinical classification of UC. METHODS: eighty-one UC patients and 114 healthy subjects (HS) were enrolled. IL-1beta, IL-1RA, and IL-4 gene polymorphisms were analyzed with polymerase chain reaction-restriction fragment length polymorphism and polymerase chain reaction with sequence-specific primers respectively. RESULTS: The gene frequency of allele RP2 of IL-4 in UC patients was significantly higher than that in HS (29.0% vs 11.8%, P = 0.00002), but the gene frequency of allele RP1 in HS was significantly higher than that in UC patients (88.2% vs 71.0%, P = 0.00002). OR of the genotype RP1.2 and RP2.2 were 2.71 (95% CI 1.39 approximately 5.31) and 9.04 (95% CI 1.05 approximately 203.29) respectively. There was not difference in the gene frequencies of IL-1beta, IL-1RA between UC patients and HS (P > 0.05). When UC patients were divided into ANCA positive and negative groups, it was found that there was significant difference in the gene frequencies of allele RP1, RP2 of IL-4 between two groups (63.7% vs 83.3%, 36.3% vs 16.7%, P < 0.05). CONCLUSIONS: There is correlation between the Chinese UC patients and the gene polymorphisms of intron 3 of IL-4. The gene frequency of allele RP1 in UC patients are lower, but the gene frequency of allele RP2 is significantly higher. The differences on gene frequencies of IL-4 between the UC patients and HS are mainly found in the ANCA positive UC patients. The Chinese UC patients are not associated with IL-1beta and IL-1RA gene polymorphisms.

Adult↗
PubMed2006

[Association of gene polymorphism at cholesterol ester transfer protein locus with obesity and response to dietary intervention in obesity].

OBJECTIVE: To study the association of gene polymorphism at cholesterol ester transfer protein (CETP) locus with obesity and response to dietary intervention in obesity. METHODS: The PCR-PFLP method was used to detect the polymorphism of CETP gene of 340 adults in Shanghai. The levels of serum lipid profile, including TG, TC, HDL and LDL were analyzed. Obesity was selected to dietary intervention. RESULTS: (1)The genotype frequencies of CETP-TaqIB B1 B1, B1 B2 and B2 B2 were 35.6%, 47.9% and 16.5% respectively, which were in agreement with Hardy-Weinberg equilibrium. There was no significant difference in the distribution of genotypes between the obesity group and control group. The result was same after several influence factors controlled. (2) The levels of HDL were significantly different among genotype groups. Subjects for the B2 B2 genotype had the highest HDL levels. The relationship was steady after adjusting several influence factors. (3)Subjects for the B1 B2 genotype had higher HDL level after intervention, which was significantly different to other genotype groups. After adjusting baseline HDL level and gender, genotype didn't effect the change in HDL. CONCLUSION: CETP-TaqIB gene polymorphism influenced serum HDL level. But this gene polymorphism at CETP locus wasn't especial in adult obesity. Baseline HDL level influenced the change in HDL response to dietary intervention in three genotype groups.

Aged↗
PubMed2006

Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisis.

BACKGROUND: Gastroschisis is a severe birth defect in which the infant is born with a portion of the intestines extruding through a small tear in the abdominal wall, usually to the right of the umbilical cord. Its etiology is unknown, but the prevailing hypothesis is that it results from a vascular accident at the time of involution of the right umbilical vein or of the development of the superior mesenteric artery. METHODS: In a case-control study of 57 cases of gastroschisis and 506 controls, we tested DNA for polymorphisms of 32 genes representing enzymes involved in angiogenesis, blood vessel integrity, inflammation, wound repair, and dermal or epidermal strength. RESULTS: In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8). Additionally, for the NPPA and ADD1 single-nucleotide polymorphisms (SNPs), the homozygote variants had a significantly higher risk than the heterozygotes (OR, 7.5; 95% CI, 1.7-33.5 and OR, 4.9; 95% CI, 1.9-12.9, respectively). Three SNPs showed a strong interaction with maternal smoking. The risk for smokers with 1 or 2 variant alleles compared to nonsmokers with the wild-type allele were: NOS3 (OR, 5.2; 95% CI, 2.4-11.4); ICAM1 (OR, 5.2; 95% CI, 2.1-12.7); and NPPA (OR, 6.4; 95% CI, 2.8-14.6). CONCLUSIONS: These results support the hypothesis of a vascular compromise as part of a multifactorial etiology of gastroschisis involving both genes and environmental factors.

Female↗
PubMed2006

[Relationships between thiopurine methyltransferase gene polymorphisms and its enzymatic activity].

OBJECTIVE: To investigate the relationship between the thiopurine methytransferase (TPMT) gene polymorphisms and its enzymatic activity, and to clarify the significance of TPMT activity and gene polymorphisms on individualized therapy with thiopurines. METHODS: The TPMT activity and gene polymorphisms were determined in an unrelated population of 250 Chinese healthy blood donors, 100 cords blood and 280 patients with acute leukemia. The TPMT genotyping assay was based on polymerase chain reaction (PCR), restriction digestion of PCR products, denaturing high-performance liquid chromatography (DHPLC) and SNaPshot sequencing and direct DNA sequencing in the TPMT exon 5 (G238C), TPMT exon7 (G460A) and TPMTexon10 (A719G). Erythrocyte TPMT activity was measured by high-performance liquid chromatography (HPLC). RESULTS: The frequency of TPMT polymorphism in 250 Chinese healthy blood donors, 100 cords blood and 280 patients with acute leukemia was low (3.5%), and all the varied alleles were TPMT* 3C (exon 10A719G). All of them were TPMT* 1/TPMT* 3C heterozygote. The TPMT activity was between 6 and 12 U. The activity in 95.1% was more than 12 U (13 - 32 U), while the activity in others (4.9%) was 6 - 12 U. TPMT activity and genotype were concordant. Of 630 subjects evaluated, TPMT activity of heterozygous individuals in Chinese healthy blood donors, cords blood and acute leukemia patients were 9.1 U, 9.3 U and 9.07 U, respectively, significantly lower than that in general population (17.6 U, 17.67 U and 18.6 U, respectively). In the samples analyzed, ten subjects with heterozygous phenotypes (6/15 acute leukemia children and 4/16 healthy blood donors and cords blood) did not have TPMT* 2, TPMT* 3A or TPMT* 3C. Therefore, other factors may affect on TPMT activity. CONCLUSION: TPMT gene polymorphisms and its activity were concordant. The heterozygotes had low TPMT activity. Therefore, detection of TPMT genotype and its activity is useful. These findings hold a promise of improving the safety and efficacy of thiopurines therapy.

Acute Disease↗
PubMed2004

Interleukins-1, -4, -6, -10, tumor necrosis factor, transforming growth factor-beta, FAS, and mannose-binding protein C gene polymorphisms in Australian women: Risk of preterm birth.

OBJECTIVE: The purpose of this study was to examine the relationship between preterm birth and 22 single nucleotide polymorphisms in genes that encode cytokines and mediators of apoptosis and host defense. STUDY DESIGN: Two hundred two white women with a spontaneous preterm birth of <35 weeks of gestation were compared with 185 white women with term births. Genotyping was performed with polymerase chain reaction and sequence specific primers. Multivariable analyses included demographic and genetic variables. RESULTS: Alcohol (multivariable odds ratio, 2.3; P = .001] and substance use (multivariable odds ratio, 3.7; P = .01) were associated with preterm birth at <35 weeks of gestation. Smoking (multivariable odds ratio, 2.3; P = .03), haplotypes IL10 -1082A/-819T/-592A (multivariable odds ratio, 2.1; P = .04), tumor necrosis factor ( TNF )+488A/-238G/-308G (multivariable odds ratio, 2.4; P = .04), and IL4 -509C/C (multivariable odds ratio, 3.4; P = .02), and the presence of MBL2 codon 54Asp (multivariable odds ratio, 2.3; P = .02) were associated independently with preterm birth at <29 weeks of gestation. Homozygosity for IL10 -1082G/-819C/-592C haplotype (multivariable odds ratio, 1.9; P = .02) was more common in women with preterm premature rupture of membranes. CONCLUSION: Polymorphisms in immunoregulatory genes may influence susceptibility to preterm birth or premature rupture of membranes.

Adolescent↗
PubMed2006

Estrogen receptor gene polymorphisms are associated with recurrence of endometriosis.

The presence of gene polymorphisms of the estrogen receptors ERalpha (PvuII and XbaI) and ERbeta (AluI) in 61 women with endometriosis was investigated. A statistically significant correlation between PvuII ERalpha gene polymorphism (PvuII), both in homozygosity (PP) and in heterozygosity (Pp), and a recurrence of endometriosis was found. In conclusion, women affected by endometriosis with the ERalpha polymorphic allele, even if heterozygous, have a worse prognosis, and these results suggest that the ERalpha gene polymorphisms may be included among the genetic risk factors for endometriosis.

Adult↗
PubMed1998

Gene Polymorphisms for PAI-1 Are Associated with the Angiographic Extent of Coronary Artery Disease.

Localized regulation of fibrinolytic protein gene expression is associated with the histologic extent of atherosclerosis. This regulation may be dependent on the presence of certain fibrinolytic protein gene polymorphisms. The relationship between the plasminogen activator inhibitor (PAI)-1 Hin dIII and the tissue plasminogen activator (t-PA) EcoR1 gene polymorphisms and the extent of coronary artery disease (CAD) were investigated in 49 Caucasian patients with symptomatic CAD. There was a strong association between PAI-1, but not t-PA, gene polymorphisms and the extent of CAD detected by coronary angiography. Patients homozygous for the presence or absence of the PAI-1 HindIII (1/1, 2/2 PAI-1) gene polymorphisms had a significantly greater extent of CAD (number of diseased vessels) than patients with the respective heterozygous forms (vs. 1/2 PAI-1, P&< = 0.05). Stepwise ordinal multiple regression analysis of classic CAD risk factors and fibrinolytic protein genotypes indicated that only the PAI-1 genotypes were predictive of the extent of angiographic CAD (P = 0.019). Analysis of variance between classic risk factors and fibrinolytic protein genotypes identified an association between t-PA genotypes and a history of prior infarction or stroke. Fibrinolytic gene polymorphisms for PAI-1 are associated with the extent of CAD in symptomatic patients and with certain risk factors for coronary atherosclerosis.

Journal Article↗
PubMed2001

CYP19 gene polymorphism in endometrial cancer patients.

PURPOSE: Initiation/promotion of endometrial cancer is known to be associated with estrogenic influence. Therefore, it is possible that some allelic polymorphisms of the genes involved in steroidogenesis or steroid metabolism contribute to endometrial cancer susceptibility. METHODS: Here, we compared CYP19 (aromatase) gene polymorphism in 85 endometrial cancer patients and in 110 non-affected women. RESULTS: The genotypes containing the longest alleles (A6 and A7) of CYP19 were found to be over-represented in patients as compared to controls. In addition, these genotypes demonstrated a tendency to be associated with increased concentrations of estradiol and testosterone in postmenopausal patients. CONCLUSIONS: Thus, CYP19 polymorphism might be one of the genetic risk factors for endometrial cancer development.

Adult↗