Dataset Information

Possible involvement of single nucleotide polymorphisms in anti-Mullerian hormone signaling pathway in the pathogenesis of early OHSS in Han Chinese women.

ABSTRACT: To investigate the possible relationship between single nucleotide polymorphisms (SNPs) in the anti-Müllerian hormone (AMH) signaling pathway and the incidence of early OHSS, the genomic DNA was isolated from peripheral blood leukocytes of 122 participants (62 patients with early OHSS and 60 patients without OHSS who underwent IVF/ICSI), and SNPs of the AMH and AMHR2 exons were detected directly. Further more, genotype distribution and allele frequency were analyzed. We found seven types of SNPs in the AMH exons, and two of them were missense mutations (rs10407022 and rs182295886). However, these two missense mutations did not increase the risk of early OHSS (rs10407022, P=0.307, OR=1.552, CI 0.668, 3.608; rs182295886, P=0.442, OR=0.359, CI 0.026, 4.883). While it was observed that participants with the SNP (rs10407022) had a relatively higher ovarian response than those without the SNP. Further more, we did not find any SNPs in exons of AMHR2. In conclusion, we analyzed the pathogenesis of OHSS by first investigating the SNPs in the AMH signaling pathway. There is no association between SNPs in the AMH/AMHR2 signaling pathway and early OHSS in Han Chinese women.

SUBMITTER: Wang L

PROVIDER: S-EPMC4583950 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Possible involvement of single nucleotide polymorphisms in anti-Müllerian hormone signaling pathway in the pathogenesis of early OHSS in Han Chinese women.

Wang Lan L Li Hemei H Ai Jihui J Zhang Hanwang H Zhao Yiqing Y

International journal of clinical and experimental pathology 20150801 8

To investigate the possible relationship between single nucleotide polymorphisms (SNPs) in the anti-Müllerian hormone (AMH) signaling pathway and the incidence of early OHSS, the genomic DNA was isolated from peripheral blood leukocytes of 122 participants (62 patients with early OHSS and 60 patients without OHSS who underwent IVF/ICSI), and SNPs of the AMH and AMHR2 exons were detected directly. Further more, genotype distribution and allele frequency were analyzed. We found seven types of SNPs ...[more]

PMID: 26464718

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Project description:BACKGROUND: Genetic variation associated with human leukocyte antigen (HLA) genes has immunological functions and is associated with autoimmune diseases. To date, large-scale studies involving classical HLA genes have been limited by time-consuming and expensive HLA-typing technologies. To reduce these costs, single-nucleotide polymorphisms (SNPs) have been used to predict HLA-allele types. Although HLA allelic distributions differ among populations, most prediction model of HLA genes are based on Caucasian samples, with few reported studies involving non-Caucasians. RESULTS: Our sample consisted of 437 Han Chinese with Affymetrix 5.0 and Illumina 550 K SNPs, of whom 214 also had data on Affymetrix 6.0 SNPs. All individuals had HLA typings at a 4-digit resolution. Using these data, we have built prediction model of HLA genes that are specific for a Han Chinese population. To optimize our prediction model of HLA genes, we analyzed a number of critical parameters, including flanking-region size, genotyping platform, and imputation. Predictive accuracies generally increased both with sample size and SNP density. CONCLUSIONS: SNP data from the HapMap Project are about five times more dense than commercially available genotype chip data. Using chips to genotype our samples, however, only reduced the accuracy of our HLA predictions by only ~3%, while saving a great deal of time and expense. We demonstrated that classical HLA alleles can be predicted from SNP genotype data with a high level of accuracy (80.37% (HLA-B) ~95.79% (HLA-DQB1)) in a Han Chinese population. This finding offers new opportunities for researchers in obtaining HLA genotypes via prediction using their already existing chip datasets. Since the genetic variation structure (e.g. SNP, HLA, Linkage disequilibrium) is different between Han Chinese and Caucasians, and has strong impact in building prediction models for HLA genes, our findings emphasize the importance of building ethnic-specific models when analyzing human populations.

Dataset Information

Possible involvement of single nucleotide polymorphisms in anti-Mullerian hormone signaling pathway in the pathogenesis of early OHSS in Han Chinese women.

Publications

Possible involvement of single nucleotide polymorphisms in anti-Müllerian hormone signaling pathway in the pathogenesis of early OHSS in Han Chinese women.

Similar Datasets

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