Association of Estrogen Receptor alpha Genes PvuII and XbaI Polymorphisms with Type 2 Diabetes Mellitus in the Inpatient Population of a Hospital in Southern Iran

BACKGROUND: Estrogen plays a fundamental role in the pathogenesis of type 2 diabetes mellitus (T2DM). Very few studies have shown the association between estrogen receptor alpha (ERalpha), PvuII and XbaI gene polymorphisms with T2DM in both men and women. We evaluated the hypothesis that PvuII and XbaI polymorphisms of ERalpha gene may be associated with T2DM in adult. METHODS: From spring of 2010 to the fall of 2011, a case-control study was performed at clinical centers of Jahrom University of Medical Sciences. We included 174 patients with T2DM including men and women and 174 age, sex, and body mass index frequency-matched health controls. We analyzed the PvuII and XbaI polymorphisms of ERalpha by using the polymerase chain reaction-based restriction fragment length polymorphism method. RESULTS: No significant differences between demographic characteristics of control and patients groups were observed. Allele frequencies of both PvuII and XbaI polymorphisms were significantly different between patients and control subjects (P=0.014 vs. P=0.002, respectively). When the group was separated into women and men, logistic regression analysis of genotype distribution of PvuII (pp vs. Pp+PP) in both sexes revealed that there was no significant association of PvuII genotype with men (odds ratio [OR], 1.67; confidence interval [CI], 0.86 to 3.28; P=0.89) and women (OR, 0.96; CI, 0.53 to 1.74; P=0.12). CONCLUSION: PvuII and XbaI polymorphisms in ERalpha are related with T2DM in the inpatient population.

Estrogen Receptor Gene PvuII and XbaI Polymorphisms and Ultrasonographic Findings of Uterine Endometrium in Postmenopausal Women with Hormone Replacement Therapy / 대한산부인과학회지

OBJECTIVE: To explore the association of estrogen receptor (ER) alpha gene PvuII and XbaI polymorphisms and ultrasonographic findings of uterine endometrium. METHODS: Forty-five postmenopausal women undergoing hormone replacement therapy (HRT) were included in this study. Women were evaluated for PvuII and XbaI polymorphisms for ER alpha gene after extracting DNA from peripheral blood. The thickness and appearance of uterine endometrium was measured by transvaginal ultrasonography. The association of estrogen receptor gene PvuII and XbaI polymorphisms and ultrasonographic endometrial findings were analyzed. RESULTS: No statistically significant difference was found in endometrial thickness (pp 3.6 +/- 1.5 mm, Pp 4.2 +/- 1.6 mm, PP 3.5 +/- 1.3 mm) or endometrial appearance among the three different groups by PvuII polymorphism. No significant difference was also observed in endometrial thickness (xx 3.6 +/- 1.5 mm, Xx 4.2 +/- 1.4 mm) or endometrial appearance between the two groups of different XbaI genotypes. CONCLUSION: These results suggest that neither PvuII nor XbaI polymorphism of the estrogen receptor alpha gene may be associated with the ultrasonographic findings of uterine endometrium in postmenopausal women undergoing HRT. Further studies with a larger scale are necessary to confirm these data.

Estrogen Receptor Gene PvuII and XbaI Polymorphism in Patients with Endometriosis / 대한산부인과학회잡지

OBJECTIVE: To explore the association of the estrogen receptor PvuII and XbaI polymorphism with endometriosis. METHODS: One hundred sixty women with surgically or histologically diagnosed endometriosis of stages I-IV, and 142 patients with no evidence of endometriosis by laparoscopy or laparotomy served as control. Frequency and distribution of PvuII and XbaI polymorphisms for estrogen receptor gene were evaluated. RESULTS: There was no statistically significant difference in the allele distribution of PvuII polymorphism between the patients and the controls (pp of 35%, pP of 51%, PP of 14% vs. 42%, 44%, 15%, p>0.1); or in the frequency of the positive PvuII allele (0.61 vs. 0.63, p>0.1). And no significant difference was also observed in the allele distribution of XbaI polymorphism between the patients and the controls (xx of 66%, xX of 29%, XX of 5% vs. 68%, 30%, 1%, p>0.1); or in the frequency of the positive XbaI allele (0.80 vs. 0.83, p>0.1). CONCLUSION: These results suggest that the PvuII or XbaI polymorphism of the estrogen receptor gene is not associated with the risk for endometriosis in the Korean population.

Association of Lipoprotein Lipase Gene Polymorphism and Coronary Artery Disease in Korean

BACKGROUND: The accumulation of lipoprotein and monocyte in the intima of the arterial wall is the most important step of the development of coronary artery disease (CAD). Lipoprotein lipase (LPL) plays an anti-atherogenic role by lipolysis of triglyceride-rich lipoproteins, but, it may also act as a receptor of some lipoproteins and monocyte at the arterial wall and act as a atherogenic molecule. Previous studies showed somewhat contradictory results about the association of CAD and LPL polymorphisms and mutations. Racial and dietary difference may contribute to these contradictory results. In this study, we tried to find out the association of CAD and the genetic variation of the LPL (PvuII RFLP in intron 6, HindIII RFLP in intron 8 and Ser 447 Ter mutation in exon 9) in Korean population. METHOD AND RESULT: CAD patients (n=146), confirmed by coronary angiography and healthy Korean adult volunteers (n=110) were genotyped for PvuII/HindIII RFLP and Ser447Ter mutation of the LPL gene by PCR-digestion method. Between two groups, the genotype frequency of these genetic variations was not different. But, the genetic variations showed different effect on lipid profile and body mass index (BMI) in the CAD group and in the control group. In the CAD group, P1 allele carriers showed higher total cholesterol (P1P1+P1P2:P2P2=216+-51 mg/dl:198+/-38 mg/dl, p=0.039) and higher LDL cholesterol level (P1P1+P1P2:P2P2=143+/-46 mg/dl:126+/-36 mg/dl, p=0.047), and H1 allele carriers had lower Body mass index than non-carriers (23.8+/-2.3 kg/m2 :24.8+/-2.9 kg/m2 , p=0.047). In the control group, the Ser447Ter mutation carriers had higher HDL cholesterol level than non-carriers (59+/-10mg/dl versus 53+/-11mg/dl, p=0.049) and patients with P1 allele showed lower body mass index (P1P1+P1P2: P2P2=23.1+/-2.6 kg/m 2 :24.5+/-2.6 kg/m2 , p=0.006). CONCLUSION: In Korean, PvuII/HindIII RFLP and Ser447Ter mutation was not associated with CAD, and they showed different effect on the lipid profile and on the body mass index according to the study group. These results suggests that the phenotypic characteristics of the LPL gene of the Korean people are different from those of occidental people.