Polymorphism In Women Research Articles

The changes in amino acids composition of the blood associated with reproductive losses and their correction

The results of examination of women with reproductive losses (RL) in anamnesis, realized within medical-genetic consultation for explanation of the role of changes of heterochromatin (chromosome polymorphism) and the features of folate metabolism in women with RL with the perspective of individualization of preconception support on the base of determination of character of causal relation between these phenomena, were presented in the article.Aim of research: specification of the role of chromosome polymorphism and changes of amino acid composition of blood in women as the possible markers of high risk of RL.Material and methods: two groups of women were examined: I - 154 observations with obstetric anamnesis, complicated with RL and II - 32 practically healthy women with non-complicated reproductive anamnesis, who underwent preconception prophylaxis before planning of pregnancy. The genealogical anamnesis, features of the state of internal organs, genitals were studied. The special studies included cytogenetic analysis, determination of the level of free sulfur-containing amino acids (methionine, cystine, cysteine, taurine) by the method of highly effective liquid chromatography.Results: The frequency of structural changes of chromosomes in women with RL is 36,4 %. The types of slight chromosome anomalies in 3,9 % was the carriage of extremal variants of C-polymorphism; in 18,8 % – polymorphism of adjacent districts of chromosomes 13, 14, 15, 17, 21, 22; in 1,9 % – increased size of сentromere heterochromatin in chromosome; in isolated cases – the increase of linear sizes of heterochromatin districts of 9 chromosome and combination of polymorphism of adjacent districts of 15 chromosomes. In 7,1 % of cases polymorphism of adjacent districts of 21 chromosome was detected. The statistical connection between the carriage of chromosome and gene polymorphism in women with RL in anamnesis was detected. The significant difference between the main and control groups was detected only for methionine among sulfur-containing amino acids. Hyperhomocysteinemia was detected in 71,9 % of women of the main group.Conclusions: Preventive strategy as to reproductive losses must provide the timely diagnostics and correction of disorders of folate cycle that is determinative component of personalized primary prophylaxis of the disorder of reproductive function of family in the modern Ukrainian population

Association between the angiotensin converting enzyme gene insertion/deletion polymorphism and metabolic disturbances in women with polycystic ovary syndrome.

Polycystic ovary syndrome (PCOS) is a common endocrine disorder in women of reproductive age. A number of PCOS complications may be associated with the elevated level of angiotensinII and low bradykinin concentrations. The aim of the present study was to investigate the frequencies of angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphisms in women with PCOS and to determine the association between ACE genetic variants and the risk of metabolic and cardiovascular complications in such women. A total of 138PCOS patients and 110healthy volunteers were enrolled. Cardiovascular risk was estimated according to the criteria of the American Heart Association and Androgen Excess and PCOS Society. The median average age was 28.5 (26.0‑31.0) and 27.0 (24.0‑30.0) years in the control and PCOS groups, respectively (P=0.004). Anthropometric parameters, including body mass index and waist circumference were significantly higher in the PCOS patients. In the PCOS group, 97 (57.4%) of the subjects were metabolically unhealthy, whereas, in the control group 51 (46.4%) subjects were (P=0.07). The II, ID, and DD genotypes frequencies were 29.1, 44.5, and 26.4% in the controls and 5.0, 37.7, and 57.3% in the PCOS patients. The cardioprotective Iallele was observed significantly less frequently in the women with PCOS compared with the controls [odds ratio (OR), 3.27; P=0.0001]. The DDgenotype, which is known to increase cardiovascular risk, was more frequently observed in PCOS patients (OR, 3.87; P=0.0003), whereas the cardioprotective IIgenotype occurred in this group less frequently (OR, 0.4; P=0.06). The results of the present study demonstrated a statistically significant association between the ACE I/D polymorphism and the presence and intensity of metabolic disturbances in women with PCOS.

Catechol-O-Methyltransferase (COMT) Genetic Polymorphisms in Women with Vulvodynia

Catechol-O-Methyltransferase (COMT) Genetic Polymorphisms in Women with Vulvodynia

Alpha2A-adrenergic receptor and eNOS genetic polymorphisms are associated with exercise muscle vasodilatation in apparently healthy individuals

PurposeMuscle vasodilatation during exercise has been associated with cardiovascular health and may be influenced by genetic variability. The purpose of this study was to evaluate functional genetic polymorphisms of physiologic pathways related to the regulation of the cardiovascular function (alpha-adrenergic receptors, endothelial nitric oxide synthase and bradykinin B2 receptor) and exercise muscle vasodilatation in apparently healthy men and women. MethodsWe enrolled 689 individuals without established cardiovascular disease that had attended a check-up program. The vasodilatation was studied with venous occlusion plethysmography and determined by the increase of vascular conductance during handgrip exercise. Genotypes for ADRA1A Arg347Cys (rs1048101), ADRA2A 1780 C>T (rs553668), ADRA2B Del 301–303 (rs28365031), eNOS 786 T>C (rs2070744), eNOS Glu298Asp (rs1799983) and BDKRB2 (rs5810761) polymorphisms were assessed by polymerase chain reaction followed by high resolution melting analysis. ResultsThe eNOS rs2070744 polymorphism was significantly associated with forearm vascular conductance during exercise in women. Women with CC genotype showed higher vasodilatation than carriers of TC and TT genotypes (p=0.043). The ADRA2A rs553668 polymorphism was significantly associated with forearm vascular conductance during exercise in men. Men with TT genotype had higher vasodilatation than carriers of CT and CC genotypes (p=0.025). ConclusionseNOS rs207074 polymorphism in women and ADRA2A rs553668 polymorphism in men were associated with the increase of forearm vascular conductance during handgrip exercise. These findings suggest that eNOS and ADRA2A genetic polymorphisms may be potential markers of exercise muscle vasodilatation.

CYP2D6 gene polymorphisms in Brazilian patients with breast cancer treated with adjuvant tamoxifen and its association with disease recurrence.

At present, there is controversy regarding the efficacy of tamoxifen in breast cancer patients who are carriers of cytochrome P450 2D6 (CYP2D6) gene polymorphisms, in terms of recurrence and overall survival. Thus, the aim of the present study was to investigate the association of the CYP2D6 *4, *10 and *17 gene polymorphisms with breast cancer recurrence in a Brazilian population. The cohort comprised 40 receptor-positive breast cancer patients without recurrence and 40 with distant recurrence. A 3-ml sample of peripheral blood was collected from each patient to determine the presence of the *4, *10 and *17 single nucleotide polymorphisms of the CYP2D6 gene by quantitative polymerase chain reaction analysis. There was no statistically significant difference between the two groups regarding the polymorphism frequency (P=0.246). The results revealed that intermediate metabolizers occurred in 5% of patients without recurrence and in 15% of those with distant recurrence. Poor metabolizers occurred in only 1 patient (2.5%) per group, and there was no significant difference between the groups (P=0.789). The present study concluded that the CYP2D6 gene polymorphism in women with hormone-sensitive breast cancer treated with tamoxifen was not associated with disease recurrence.

Involvement of myeloperoxidase gene polymorphism 463G>A in development of cervical squamous cell carcinoma.

The myeloperoxidase (MPO) -463G>A (rs2333227) polymorphism has been linked with increased susceptibility to the development of various malignancies. However, the data on the association of the MPO -463G>A transition with cervical cancer remain inconsistent. Using high resolution melting analysis we genotyped this polymorphism in women with cervical squamous cell carcinoma (SCC) (n = 476) and controls (n = 493) from a Polish Caucasian population. Logistic regression analysis was used to adjust for the effect of confounders such as age, parity, oral contraceptive use, tobacco smoking, and menopausal status, and revealed that the MPO -463G>A single nucleotide polymorphism (SNP) was associated with an increased risk of SCC. The adjusted odds ratio (OR) for patients with the A/A genotype versus G/G genotype was 0.718 (95% CI 0.531-0.972, p = 0.0316). Stratified analyses between the MPO -463G>A polymorphism and SCC risks demonstrated a protective role of the MPO -463G>A SNP in patients with a positive history of parity and negative history of tobacco smoking. In patients with a positive history of parity, the age-adjusted OR for the A/A versus G/G genotype was 0.667 (95% CI 0.479-0.929, p = 0.0164). The age-adjusted OR for patients with a negative history of tobacco smoking for the A/A versus G/G genotype was 0.491 (95% CI 0.313-0.770, p = 0.0019). Our study demonstrated that the MPO -463G>A SNP may protect from SCC in women from Polish Caucasian populations.

Полиморфизм С677Т MTHFR у матери как возможный фактор риска формирования хромосомных анэуплоидий у плода

The article presents the data of its own investigation to determine the existence of relationship formation chromosomal aberrations in the fetus with the mother’s genotype polymorphism C677T MTHFR. Materials and methods. Two groups were formed: 1 group – of women with chromosomal abnormalities in the fetus (n=131); 2 group the fruits that have been identified with the use of СA prenatal karyotyping (n=110). By way of comparison groups used women with karyotyped fruits without chromosomal abnormalities (n=139). Control group consisted of 114 healthy women who have one or more of a healthy child. In all groups performed the definition of polymorphism C677T MTHFR. Results. The genotype of C/T was significantly (p<0.01) 1.33 times more common in the group of women who had a fetus with normal karyotype and a control group of women, against women who had a fetus with CA. Genotype T/T was significantly 6.3 times (p<0.01) is more common in women selected for the prenatal diagnosis compared with women in the control group. When calculating the odds ratio shows that the risk of having a fetus with signs of chromosomal aberrations increased 7-fold (OR=7.000) in women with genotype T/T 677 MTHFR. Conclusion. Homozygous genotype for the mutant allele of MTHFR C677T T polymorphism in women with a high probability it determines the group at risk of chromosomal abnormalities in the fetus. Key words: folate metabolism, chromosomal abnormalities.

Which are the most common thrombophilic genetic nucleotide polymorphisms in infertile women undergoing an IVF cycle?

Introduction: Thrombophilia is considered one of the causes of infertility, especially after repeated failures of IVF techniques. The aim of this work is to evaluate the incidence of thrombophilia in women who underwent IVF cycles and assess the outcome of the techniques.Methods: In vivo study. The study sample was composed of 262 women undergoing a fresh cycle of in vitro fertilization (IVF) cycle of Intracytoplasmatic Sperm Injection (ICSI) from July 2012 to December 2014 in the Center of Physiopathology of Human Reproduction. Amongst these patients, we have selected 96 patients with indication for thrombophilia screening.Results: Thrombophilia screening detects that only 8% (n = 8) of the patients was negative to all the studied mutations, while the remaining 92% (n = 88) was positive to at least one mutation. The most common mutations were MTHFR gene (C677T) (91,84%), ACE gene (54,88%) and PAI-1 gene (69,44%).Conclusion: Our results showed an increased frequency of genetic nucleotide polymorphisms in women reporting failures in IVF techniques. Differently from scientific literature data, in our work, the most frequent mutation affects the enzyme gene MTHFR, particularly the C667T mutation; on the other side, mutations of factor V and II are less common.

Significant correlation of angiotensin converting enzyme and glycoprotein IIIa genes polymorphisms with unexplained recurrent pregnancy loss in north of Iran

Spontaneous abortion is considered as the most complex problem during pregnancy. Thrombophilia is resumed as a cause of recurrent pregnancy loss (RPL). Glycoprotein IIIa (GPIIIa) gene is involved in thrombosis and abortion. Angiotensin converting enzyme (ACE) converts angiotensin I to angiotensin II and is involved in thrombosis. The most common polymorphism in this gene is the insertion/deletion (I/D). In this study, we analyzed the association between ACE I/D and GPIIIa c.98C >T polymorphisms in women with unexplained RPL from the north of Iran. Sample population consisted of 100 women with unexplained RPL and 100 controls. The ACE I/D and GPIIIa c.98C>T polymorphisms were genotyped by TETRA-ARMS PCR. The association between genotypes frequency and RPL were analyzed using χ(2) and exact fisher tests. Associated risk with double genotype combinations was also investigated by binary logistic regression. There was significant association between ACE DD genotype and RPL (OR=2.04; 95% CI=0.94-4.44; p=0.036). ACE D Allele was also significantly associated with the RPL (OR=1.59; 95% CI=1.05-2.41; p=0.013). No significant association was observed between GPIIIa c.98C>T polymorphism and RPL. ACE I/D polymorphism may probably be a prognostic factor in female family members of women with the history of recurrent abortion.

Social memory associated with estrogen receptor polymorphisms in women.

The ability to recognize the identity of faces and voices is essential for social relationships. Although the heritability of social memory is high, knowledge about the contributing genes is sparse. Since sex differences and rodent studies support an influence of estrogens and androgens on social memory, polymorphisms in the estrogen and androgen receptor genes (ESR1, ESR2, AR) are candidates for this trait. Recognition of faces and vocal sounds, separately and combined, was investigated in 490 subjects, genotyped for 10 single nucleotide polymorphisms (SNPs) in ESR1, four in ESR2 and one in the AR Four of the associations survived correction for multiple testing: women carrying rare alleles of the three ESR2 SNPs, rs928554, rs1271572 and rs1256030, in linkage disequilibrium with each other, displayed superior face recognition compared with non-carriers. Furthermore, the uncommon genotype of the ESR1 SNP rs2504063 was associated with better recognition of identity through vocal sounds, also specifically in women. This study demonstrates evidence for associations in women between face recognition and variation in ESR2, and recognition of identity through vocal sounds and variation in ESR1. These results suggest that estrogen receptors may regulate social memory function in humans, in line with what has previously been established in mice.

CCR2 and CCR5 genes polymorphisms in women with cervical lesions from Pernambuco, Northeast Region of Brazil: a case-control study.

Polymorphisms in chemokine receptors play an important role in the progression of cervical intraepithelial neoplasia (CIN) to cervical cancer (CC). Our study examined the association of CCR2-64I (rs1799864) andCCR5-Δ32 (rs333) polymorphisms with susceptibility to develop cervical lesion (CIN and CC) in a Brazilian population. The genotyping of 139 women with cervical lesions and 151 women without cervical lesions for the CCR2-64I and CCR5-Δ32 polymorphisms were performed using polymerase chain reaction-restriction fragment length polymorphism. The individuals carrying heterozygous or homozygous genotypes (GA+AA) for CCR2-64I polymorphisms seem to be at lower risk for cervical lesion [odds ratio (OR) = 0.37, p = 0.0008)]. The same was observed for the A allele (OR = 0.39, p = 0.0002), while no association was detected (p > 0.05) with CCR5-Δ32 polymorphism. Regarding the human papillomavirus (HPV) type, patients carrying the CCR2-64Ipolymorphism were protected against infection by HPV type 16 (OR = 0.35, p = 0.0184). In summary, our study showed a protective effect ofCCR2-64I rs1799864 polymorphism against the development of cervical lesions (CIN and CC) and in the susceptibility of HPV 16 infection.

Specific polymorphisms in the vitamin D metabolism pathway are not associated with susceptibility to Chlamydia trachomatis infection in humans.

Chlamydia trachomatis is the most common sexually transmitted bacterium worldwide. Its often asymptomatic course of infection increases chances of transmission, and increases risk of late complications. Genetic variations in the host immune system are known to impact the course of infections. Recent studies have shown a positive impact of vitamin D on the regulation of the immune system. This study assesses the impact of eight polymorphisms in five genes [VDR (rs1544410 G > A, rs2228570 C > T), CYP27B1 (rs10877012 G > T), DHCR7 (rs7944926 G > A, rs3829251 G > A), GC (rs3755967) and CYP2R1 (rs10741657 G > A, rs2060793 G > A)] on susceptibility to Chlamydia infections in humans. These polymorphisms could influence protein expression or function, and thus influence the immune system. Samples of women visiting the STD outpatient clinic in South Limburg were genotyped using the Roche Lightcycler 480. In this study, we did not observe statistically significant differences between the genotype distributions of these polymorphisms in women with or without a Chlamydia infection. This suggests that VDR, CYP27B1, DHCR7, GC and CYP2R1 do not affect the susceptibility to Chlamydia infections. However, due to its pleiotropic nature in the immune system a role for the vitamin D pathway may not be excluded from the whole clinical course of Chlamydia infections (e.g. late complications), and further research is required.

TNF-α and IL10 gene polymorphisms in women with postmenopausal osteoporosis

ObjectivePostmenopausal osteoporosis is a common disorder characterized by decreased bone mineral density (BMD). Proinflammatory cytokines are among the significant factors involved in bone turnover. They are the stimulants of bone resorption, acting directly on osteoclasts and osteoclast precursors. In this study, we examined the TNF-α (−308G>A) (rs1800629) and IL10 (−1082G>A) (rs1800896), (−592C>A) (rs1800872) polymorphisms in postmenopausal women with BMD T-scores less than and greater than or equal to −2.5 SD. Study designThis study included 224 postmenopausal women with BMD T-scores lower than −2.5 SD (mean: −3.02±0.53) and 238 postmenopausal women with BMD T-scores −2.5 SD and greater (mean: −1.33±0.51). ResultsThere was a decrease in the frequency of IL10 1082 G allele carriers (GG and GA genotypes) in women with T-scores below −2.5 SD (GG+GA vs AA: OR=0.65, 95% CI=0.44−0.97, p=0.037). With regard to the TNF-α −308 G>A polymorphism, in the women with T-scores below −2.5 SD, the increased frequency of GG homozygotes and G allele carriers was detected (AA+GA vs GG: OR=0.54, 95% CI=0.35−0.82, p=0.004). ConclusionsThe results of our study suggest an association between TNF-α −308G>A and IL10 −1082G>A polymorphisms and postmenopausal osteoporosis.

An outline on the aetiopathological association of genetic polymorphisms in women with female genital tuberculosis

The aetiopathological association of genetic polymorphisms in women with female genital tuberculosis (FGTB) is not understood completely. This review summarises the role of gene polymorphisms in Mycobacterium tuberculosis infection leading to infertility and switching on of the toll-like receptor 2 (TLR2) as well as the interferon-gamma (IFN-γ) signalling mechanisms and attempts to give information on amplification refractory mutation system (ARMS)–multi-gene (MG)/multi-primer (MP) polymerase chain reaction (PCR). The study was conducted in the Department of Zoology, Osmania University, Hyderabad, India. Desired articles for systematic reviews and meta-analysis strategies were used for the critically review. Keywords and internet searches were conducted in all electronic databases from the beginning of September 03, 2006 to July 07, 2017. Full-text, English language reviews and research articles based on FGTB, gene polymorphism and infertility were included. This review provides a comprehensive overview on the role of genetic polymorphism and mycobacterium infection in causing infertility, related symptoms and highlights the role of ARMS–MG/MP PCR for the detection of gene polymorphisms among infertile patients with FGTB. A total of 163 studies were recognised; only a minimum number of reviews (n = 4/163, 2.45%) scored well. A review on the association of genetic polymorphism in a well-characterised set of infertile patients with FGTB and healthy control women without tuberculosis was chosen as main outcome. This study noted that more research is needed to correlate mutations in TLR2 and IFN-γ along with the functional consequences of other factors and recommends considering the ARMS–MG/MP PCR for a rapid analysis of any known mutation in genomic deoxyribonucleic acid.

Association of CYP1A1 (cytochrome P450) MspI polymorphism in women with endometriosis.

Endometriosis is a disease that affects 10 to 15% of the women of reproductive age. It is characterized by the presence of endometrial-like tissues outside of the uterus. Some definitions claim that the functional ectopic tissue is sensitive to the action of hormones. Severity of endometriosis is defined according to a system proposed by the American Society for Reproductive Medicine, which is based on laparoscopic findings. A large number of genetic polymorphisms has been reported for CYP1A1, the gene that is responsible for enzymes involved in stage I detoxification of xenobiotics; this gene is located at 15q22-24, and encodes an isoenzyme that catalyzes the oxidation of polycyclic aromatic hydrocarbons present in phenolic compounds and epoxides. The aim of this study was to analyze the frequency of the MspI polymorphism and its relation to endometriosis. We obtained peripheral blood samples from 52 women with endometriosis (confirmed by laparoscopy) as well as 42 women without endometriosis (control group). In the case group, the women were between 25 and 35 years of age; the age range was between 25 and 57 years old in the control group. Molecular analysis was performed by polymerase chain reaction. We found a significant association (P = 0.039) between the polymorphic allele m1 and endometriosis (32.70%). In conclusion, this study showed that the m1 polymorphism is associated with endometriosis, and that W1/m1 and m1/m1 polymorphisms are more frequently observed in patients with infertility and severe endometriosis.

Mutations in the Gene for Factor V Leiden and G20210A Prothrombin Polymorphism in Women With Recurrent Spontaneous Abortion: A Retrospective Study in a Brazilian Population

Background: Pregnancy is sufficiently considered an important risk factor for thromboembolic events. We aimed to determine the prevalence of factor V Leiden (FVL) and prothrombin gene 20210A mutations in patients with miscarriages and to correlate these results with normal and abnormal karyotypes. Methods: A retrospective study was carried out in 247 women with a history of miscarriages. These samples were karyotyped, and the DNA was extracted (chorionic villi) and genotyped for FVL and prothrombin gene polymorphism. Results: Polymorphism frequency was compared among different groups. FLV showed significant levels in the normal cytogenetic groups in two comparisons: normal abortion (NA) versus abnormal abortion (AA) (P = 0.08) and normal recurrent abortion (NRA) versus AA (P = 0.048). The presence or absence of at least one polymorphism was evaluated. The frequency of G20210A prothrombin gene polymorphism was higher in NA than in AA: NA versus AA (P = 0.014), NRA versus AA (P = 0.018) and AA versus NRA (P = 0.01). Conclusions: The FVL showed probable importance in the genesis of abortions due to its greater frequency of normal karyotype miscarriage. Once presence of both polymorphisms was significantly higher in normal karyotype miscarriage than in abnormal, we can infer that the alterations are associated with the pathophysiology of abortions. J Clin Gynecol Obstet. 2016;5(3):85-91 doi: http://dx.doi.org/10.14740/jcgo412e

Catechol-O-methyltransferase polymorphism in women with uterine leiomyoma and adenomyosis

The aim of this research was to study the frequency of polymorphic variants Val158Met (rs4680) of catechol-O-methyltransferase (COMT) gene in patients with uterine leiomyoma. A polymerase chain reaction was performed to figure out the frequency of polymorphic alleles of COMT gene in 54 patients with uterine leiomyoma and 103 women from the general population. It is shown that the presence of the genotype G/G of the COMT gene is associated with 2.5 times-increased risk of uterine leiomyoma (RR 2,44, Cl95: 1,168-5,103) , whereas the genotype A/A is not associated with the development of leiomyoma. At the same time, a comparative analysis of the genotypes frequencies of the COMT gene polymorphism between groups with different combinations of hyperplastic processes of reproductive system (uterine leiomyoma, adenomyosis, hyperplastic processes of endometrium), showed no statistically significant differences. Refs 26. Tables 3.

GLUTATHIONE PEROXIDASE-1 PRO200LEU POLYMORPHISM (RS1050450) IS ASSOCIATED WITH MORBID OBESITY INDEPENDENTLY OF THE PRESENCE OF PREDIABETES OR DIABETES IN WOMEN FROM CENTRAL MEXICO.

obesity affects more than a third of Mexican population. Oxidative stress participates actively in the etiology of this phenomenon. Glutathione peroxidase-1 (GPX-1) plays a protective role against oxidative stress. The SNP Pro200Leu (rs10504050) has been reported to affect the activity of the enzyme. to determine the frequency of rs10504050 polymorphism in women with obesity and normal weight control, asses the concentration of peripheral TBARS and evaluate the consumption of pro and antioxidants. 104 women with obesity and 70 healthy controls (CG) were included in the study. Anthropometric, biochemical, clinical and dietary features were evaluated. GPx-1 rs10504050 was determined by PCR/RFLP method. TBARS was assayed spectrophotometrically in plasma. The subjects were stratified and compared by obesity grades and by subgroups of prediabetes and diabetes condition. Statistical analysis included ANOVA of Kruskal Wallis, Xi squared and Pearson correlation. for rs10504050 polymorphism there were differences (Xi2 = 6; p = 0.01) between frequency (0.61) of obese carriers (Pro/Leu plus Leu/Leu) and CG carriers (0.42), and between (Xi2 = 8; p = 0.004) morbid (IMC > 40) obesity (0.74) and CG carriers. The obese group (OB) showed a prevalence of 66% of prediabetes plus diabetes. There were no differences in frequencies of rs10504050 in OB with pre or diabetes versus CG, or versus obese participants without diabetes. TBARS concentration was greater in all the degrees of OB versus CG. GPx-1 Pro200Leu polymorphism was associated with obesity especially with morbid obesity, but not with obese participants with prediabetes or diabetes. Oxidative stress is present in all grades of obesity significantly.

Recurrent miscarriage is associated with the dopamine receptor (DRD2) genotype

The purpose of this research is to compare the prevalence of dopamine receptor D2 polymorphisms in women with recurrent miscarriage (RM) and healthy patients. Fifty-four women were enrolled in this case–control study. We performed DNA extraction of peripheral blood, followed by polymerase chain reaction to confirm single-strand polymorphisms and to sequence two polymorphisms: polymorphism 1 (rs6275) and polymorphism 2 (rs6277) in exon 7 of the dopamine receptor D2 (DRD2). The frequency of DRD2 polymorphism 2 (rs6277) was increased in the subjects with RM. An analysis of the DRD2 genotypes demonstrated an odds ratio of 2.37 (1.05–5.36, 95% confidence interval) for the polymorphism 2 (rs6277) in RM. The mean of the serum prolactin level was higher in the patients with RM (12.5 ng/ml) than in healthy women (8.1 ng/ml) p = 0.03. An excess homozygosity of the DRD2 polymorphism suggests a genetic predisposition to RMs, which could result in a mild serum prolactin increase. Thus, because of the potential role of prolactin in reproductive regulation, this polymorphism could play an important role in early pregnancy implantation and pregnancy maintenance.

Glutathione S-transferase M1 and T1 gene polymorphisms in Brazilian women with endometriosis.

The glutathione family (GST) genes appear to play a role in the genesis of endometriosis. This case-control study aimed to compare the frequencies of GSTM1 and GSTT1 polymorphisms in women with endometriosis and women without endometriosis. Polymerase chain reaction was performed to analyze the GSTM1 and GSTT1 genotypes among women with surgically and histologically confirmed endometriosis (case group n = 121) and in women without evidence of endometriosis confirmed by laparoscopy for investigation the infertility or for laparoscopic tubal sterilization (control group n = 97). No differences in the frequencies of GSTM1 polymorphism (null genotype) were observed between the cases and controls: odds ratio (OR) = 1.13; 95 % CI 0.656-1.93 (p = 0.659). The GSTT1 polymorphism (null genotype) was more prevalent in the endometriosis group than in the control group (OR = 0.53; 95 % CI 0.94-0.29 (p = 0.039). No relationship between menstrual cycle interval and GSTM1 null genotype frequency was observed in either cases or controls (p = 0.370 and p = 0.664, respectively). In addition, no relationship between menstrual cycle interval and GSTT1 null genotype was observed in cases (p = 0.797) or controls (p = 0.052). GSTM1 null genotype frequency was similar between cases and controls. The GSTT1 null genotype was more frequent in the control group.