Dataset Information

No association between polymorphisms in PTEN and primary ovarian insufficiency in a Han Chinese population.

ABSTRACT: The aim of our study was to investigate the possible relationship between polymorphisms in PTEN (the phosphatase and tensin homolog located on chromosome ten in humans) and POI (primary ovarian insufficiency) in Chinese women.Seven tag SNPs (single nucleotide polymorphisms) - rs1234219, rs1903858, rs2299939, rs35352882, rs17107001, rs2299941 and rs12572106 - were chosen from the CHB (Han Chinese people in Beijing, China) HapMap database. MALDI-TOF-MS (matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry) was used to detect the genotype distribution of the seven SNPs among 148 POI patients and 230 controls.No statistically significant difference was found in an association analysis of the seven SNPs in the allele frequencies, genotype frequencies, or haplotype distributions.In summary, this study explored the relationship between polymorphisms in PTEN and POI in a Han Chinese population and suggests that polymorphisms in PTEN may not be associated with a risk of POI.

SUBMITTER: Zou W

PROVIDER: S-EPMC4470131 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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No association between polymorphisms in PTEN and primary ovarian insufficiency in a Han Chinese population.

Zou Weiwei W Wang Binbin B Wang Jing J Zhang Zhiguo Z Xu Xiaofeng X Chen Beili B Ma Xu X Cao Yunxia Y

Reproductive biology and endocrinology : RB&E 20150617

<h4>Background</h4>The aim of our study was to investigate the possible relationship between polymorphisms in PTEN (the phosphatase and tensin homolog located on chromosome ten in humans) and POI (primary ovarian insufficiency) in Chinese women.<h4>Methods</h4>Seven tag SNPs (single nucleotide polymorphisms) - rs1234219, rs1903858, rs2299939, rs35352882, rs17107001, rs2299941 and rs12572106 - were chosen from the CHB (Han Chinese people in Beijing, China) HapMap database. MALDI-TOF-MS (matrix-as ...[more]

PMID: 26082156

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Project description:AimsDilated cardiomyopathy (DCM) belongs to the common types of cardiomyopathies. The pathogenesis remains unclear despite the fact that various genes have been found associated with DCM. MMP2 is a zinc-dependent and calcium-containing secreted endoproteinases, which could cleave a broad spectrum of substrates including extracellular matrix components and cytokines. It has proved to play an important role in the cardiovascular diseases. This study aimed to investigate the potential role of MMP2 gene polymorphisms in DCM susceptibility and prognosis in a Chinese Han population.Methods and resultsA total of 600 idiopathic DCM patients and 700 healthy controls were enrolled. Patients with contact information were followed up for a median period of 28 months. Three tagged single nucleotide polymorphisms (rs243865, rs2285052, and rs2285053) in the promoter of MMP2 gene were genotyped. A series of function analysis were conducted to illuminate the underlying mechanism. The frequency of rs243865-C allele was increased in DCM patients when compared with healthy controls (P = 0.001). Genotypic frequencies of rs243865 were associated with the susceptibility of DCM in the codominant, dominant, and overdominant models (P < 0.05). Besides, rs243865-C allele presented a correlation with the poor prognosis of DCM patients in both dominant (HR = 2.0, 95% confidence interval [CI] = 1.14-3.57, P = 0.017) and additive (HR = 1.85, 95% CI = 1.09-3.13, P = 0.02) model. The statistical significance remained after adjustment for sex, age, hypertension, diabetes, hyperlipidaemia, and smoking status. There were significant differences in left ventricular end-diastolic diameter and left ventricular ejection fraction between rs243865-CC and CT genotypes. Functional analysis indicated that rs243865-C allele increased luciferase activity and the mRNA expression level of MMP2 by facilitating ZNF354C binding.ConclusionsOur study suggested that MMP2 gene polymorphisms were associated with DCM susceptibility and prognosis in the Chinese Han population.

Dataset Information

No association between polymorphisms in PTEN and primary ovarian insufficiency in a Han Chinese population.

Publications

No association between polymorphisms in PTEN and primary ovarian insufficiency in a Han Chinese population.

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