Association of the Angiotensinogen M235T and APO E Gene Polymorphisms in Turkish Type 2 Diabetic Patients with and without Nephropathy.

Yazan: admin Tarih: May 19th, 2011 | Kategori:: Gene polymorphisms
Ren Fail. 2011;33(5):469-74. Epub 2011 Apr 18.
Reis KA, Ebinç FA, Koç E, Demirci H, Erten Y, Güz G, Derici UB, Bali M, Söylemezoğlu O, Arınsoy T, Sindel S.

Source

Department of Nephrology, Faculty of Medicine, Gazi University , Ankara , Turkey.

Abstract

Background: Diabetic nephropathy (DN) is a leading cause of diabetes-related morbidity and mortality. The aim of this study was to evaluate the relationship of AGT M235T and apoprotein E (APO E) gene polymorphism with DN in Turkish patients of Type 2 diabetes, and to compare genotype and allele distributions among DN patients, non-DN patients, and healthy controls. Methods: AGT M235T and APO E genotype and allele analysis were performed in 111 DN patients, 108 non-DN patients, 106 healthy control subjects for APO E genotype, and 100 for AGT M235T genotype polymorphism. APO E and AGT M235T genotype were determined by RFLP-PCR. Results: The frequencies of APO E ε2/3, ε 3/3, ε 3/4 genotypes were 22.7%, 60%, 60%, respectively, among DN patients and 6.6%, 80%, 10.4%, respectively (p < 0.001), in the non-DN patients. The frequencies of AGT M235T MM, MT, TT genotypes among the same groups were 17%, 46%, 37% and 21%, 63%, 16%, respectively (p < 0.02). Having the ε2/3 genotype and TT genotype increased the risk for DN nephropathy [4.8-fold (95% CI: 1.94-11.67), 2.9-fold (95% CI: 1.27-6.69), respectively]. Conclusion: Our study has shown that AGT M235T TT genotype and APO E ε 2/3 genotype may be linked to a risk for DN among Turkish population.


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E-cadherin gene 3′-UTR C/T polymorphism in Turkish patients with nephrolithiasis.

Yazan: admin Tarih: Oca 25th, 2011 | Kategori:: E-cadherin, nephrolithiasis

Mol Biol Rep. 2010 Dec 14.

Yilmaz A, Menevse S, Onaran M, Sen I, Ergun MA, Camtosun A, Kupeli B, Bozkirli I.

Department of Medical Biology and Genetics, Faculty of Medicine, Gazi University, Besevler, Ankara, 06500, Turkey.

Abstract

Nephrolithiasis is a complex disease and many gene polymorphisms have been associated with stone formation. In this study we aimed to investigate another possible relationship between E-cadherin gene (CHD1) 3′-UTR C/T polymorphism and calcium oxalate nephrolithiasis in the Turkish population. Study population was composed of 143 patients with nephrolithiasis and 158 control subjects. CHD1 3′-UTR C/T polymorphism was analysed using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) technique. Genotype distribution of the investigated polymorphism was not deviated from Hardy-Weinberg equilibrium (HWE) in patients and control subjects (P > 0.05). C allele frequency was 85.7 and 85.1% in patients and controls, respectively (P = 0.836). Genotype distributions of the CHD1 3′-UTR C/T polymorphism among patients were also not significantly different from those among control subjects (P = 0.636). Our results showed that there is no association between the CHD1 gene 3′-UTR C/T polymorphism and nephrolithiasis in our population.


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Evaluation of in vitro fertilization parameters and estrogen receptor alpha gene polymorphisms for women with unexplained infertility.

Yazan: admin Tarih: Kas 11th, 2009 | Kategori:: Cancer (Kanser)

J Assist Reprod Genet. 2009 Oct 29.

Ayvaz OU, Ekmekçi A, Baltacı V, Onen HI, Unsal E.

Department of Medical Biology and Genetics, Faculty of Medicine, Gazi University, Besevler, 06500, Ankara, Turkey, ozg_e@yahoo.com.

PURPOSE: Association of ESR1 gene PvuII, XbaI and (TA)n microsatellite polymorphisms and woman infertility was evaluated. METHODS: Infertile(n = 104) and fertile(n = 107) women were included in this study. We performed polymerase chain reaction-restriction fragment-length polymorphism analysis for detecting ESR1 polymorphisms. RESULT(S): PvuII and XbaI polymorphisms confered risk for infertility in a simple dominant manner in which a significant relationship was observed between infertile and control women. Infertile women had fewer(<18) short repeat alleles in promotor region. ESR1 genotypes were compared concerning maturation, fertilization, pregnancy rates and embryo quality. Although no difference was found in terms of pregnancy rates, maturation and fertilization rates were significantly smaller in pp and xx genotypes. Also, pp genotypes had significantly lower number of good quality embryos. Long TA repeat in promotor was found to be associated with low fertilization rate. CONCLUSION(S): Polymorphisms at the ESR1 gene are associated with infertility in this Turkish infertile women population.


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An investigation of relationships between hypoxia-inducible factor-1 alpha gene polymorphisms and ovarian, cervical and endometrial cancers.

Yazan: admin Tarih: Ağu 3rd, 2008 | Kategori:: Cervical cancer, Endometrial cancers, Ovarian Cancer(yumurtalık kanseri)
Cancer Detect Prev. 2007;31(2):102-9. Epub 2007 Apr 6.

Konac E, Onen HI, Metindir J, Alp E, Biri AA, Ekmekci A.

Department of Medical Biology and Genetics, Faculty of Medicine, Gazi University, 06500 Besevler, Ankara, Turkey.

BACKGROUND: DNA sequence variations in HIF-1 alpha gene might yield changes both in the production outcomes and in the activities of the gene. Overexpression of the HIF-1 alpha subunit, resulting from intratumoral hypoxia and genetic alterations, has been demonstrated in common human cancers and is correlated with tumor angiogenesis and patient mortality. In this study, we aimed to determine how the three single nucleotide polymorphisms (SNPs, C1772T and G1790A exon 12, C111A exon 2) in the HIF-1 alpha gene coding regions affect the ovarian, cervical and endometrial cancer patients in the Turkish population. A study on this relationship has not been conducted to date. METHOD: 102 gynecologic cancer patients and 107 healthy controls were studied. Genotypes of the three polymorphisms were analyzed by PCR-RFLP. RESULTS: There was no significant difference between ovarian cancer patients and controls in terms of the distribution of C1772T genotypes and alleles (P>0.05). However, there was a highly significant increase in the frequency of both CT 1772 and TT 1772 genotypes in patients with cervical and endometrial cancers compared with healthy controls. In fact, 1772T allele-carriers (CT+TT genotypes) showed an association with the risk of cervical and endometrial cancers compared to the wild type (OR=3.84, 95% CI: 1.65-8.93; OR=7.41, 95% CI: 2.33-23.59, respectively). C1772T polymorphism was not associated with family history concerning gynecologic and/or other cancer types, stages (I-IV) and grades of tumor, smoking habits and existence of other diseases that generate a hypoxic microenvironment even after multivariable logistic regression analysis. As for HIF-1 alpha G1790A genotypes, the frequencies of G alleles were 98% in ovarian patients and 100% in the control group. We found no significant difference in the genotype distribution and allele frequencies between the ovarian patients and healthy control subjects. There were no GA and AA genotypes among the cervical and endometrial cancer patients. As for HIF-1 alpha C111A polymorphism, we did not find CA and AA variants of the gene in controls or in any of the three types of patients. CONCLUSION: Our results suggest that the C1772T polymorphism of the HIF-1 alpha may be associated with cervical and endometrial cancers.


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