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Liu J.,Institute of Reproductive and Child Health Ministry of Health Key Laboratory of Reproductive Health | Zhang Y.,Institute of Reproductive and Child Health Ministry of Health Key Laboratory of Reproductive Health | Jin L.,Institute of Reproductive and Child Health Ministry of Health Key Laboratory of Reproductive Health | Li G.,Peking University | And 7 more authors.
Metabolic Brain Disease | Year: 2015

Methylenetetrahydrofolate reductase (MTHFR) C677T and catechol-O-Methyltransferase (COMT) G158A are associated with a risk of neural tube defects (NTDs) in offspring. This study examined the effect of a MTHFR × COMT interaction on the risk of NTDs in a Chinese population with a high prevalence of NTDs. A total of 576 fetuses or newborns with NTDs and 594 controls were genotyped for MTHFRrs1801133, MTHFRrs1801131, and COMTrs4680 and COMTrs737865. Information on maternal sociodemographic characteristics, reproductive history, and related behavior was collected through face-to-face interviews. Possible interactions between genetic variants of MTHFR and COMT were examined. MTHFR C677T homozygous TT was associated with an elevated risk of total NTDs (odds ratio [OR] = 1.37, 95 % confidence interval [CI] = 0.93–2.03) and of anencephaly (OR = 1.67, 95 % CI = 0.98–2.84) compared with the CC genotype. There was a COMT rs737865 CC × MTHFR rs1801133 TT interaction for total NTDs (OR = 3.02, 95 % CI = 1.00–9.14) and for anencephaly (OR = 3.39, 95 % CI = 0.94–12.18). No interaction was found between COMT rs4680 AA/AG and MTHFR CT/TT genotypes for total NTDs or any subtype of NTD. The interaction of COMT rs737865 and MTHFR C677T was associated with an increased risk of NTDs, especially anencephaly, in a Chinese population with a high prevalence of NTDs. © 2014, Springer Science+Business Media New York.


Yang N.,Institute of Reproductive and Child Health Ministry of Health Key Laboratory of Reproductive Health | Wang L.,Institute of Reproductive and Child Health Ministry of Health Key Laboratory of Reproductive Health | Finnell R.H.,Dell Pediatric Research InstituteThe University of Texas at AustinAustin | Li Z.,Institute of Reproductive and Child Health Ministry of Health Key Laboratory of Reproductive Health | And 5 more authors.
Birth Defects Research Part A - Clinical and Molecular Teratology | Year: 2016

Background: After years of periconceptional folic acid supplementation, the prevalence of neural tube defects (NTDs) remains stable following the remarkable reduction observed immediately after the fortification practice. There is accumulating evidence that folate receptor (FR) autoimmunity may play a role in the etiology of folate-sensitive NTDs. Methods: From 2011 to 2013, 118 NTD cases and 242 healthy controls were recruited from a population-based birth defects surveillance system in Northern China. Enzyme-linked immunosorbent assay was used to measure FR autoantibodies in maternal and cord blood. Logistic regression models were used to estimate the odds ratios (OR) and 95% confidence intervals (95% CI). Results: Plasma FR autoantibodies levels were significantly elevated in mothers of infants with NTDs compared with mothers of healthy controls. Using the lowest tertile as the referent group, 2.20-fold (95% CI, 0.71-6.80) and 5.53-fold increased odds (95% CI, 1.90-16.08) of NTDs were observed for the second and third tertile of immunoglobulin G (IgG), respectively, and the odds of NTDs for each successive tertile of IgM was 0.98 (95% CI, 0.35-2.75) and 3.49 (95% CI, 1.45-8.39), respectively. A dose-response relationship was found between FR autoantibodies levels and risk of NTDs (P < 0.001 for IgG, P = 0.002 for IgM). The same pattern was observed in both subtypes of spina bifida and anencephaly. No significant difference in levels of cord blood FR autoantibodies was observed. Conclusion: Higher levels of FR autoimmunity in maternal plasma are associated with elevated risk of NTDs in a dose-response manner. © 2016 Wiley Periodicals, Inc.


Meng Q.-Q.,Institute of Reproductive and Child Health Ministry of Health Key Laboratory of Reproductive Health | Zhang Y.-L.,Institute of Reproductive and Child Health Ministry of Health Key Laboratory of Reproductive Health | Ren A.-G.,Institute of Reproductive and Child Health Ministry of Health Key Laboratory of Reproductive Health
Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi | Year: 2013

OBJECTIVE: To estimate the infertility rates and to examine factors that contribute to the variations in infertility rates among studies.METHODS: Wanfang, CQVIP, CNKI, and PubMed Database were searched for infertility relevant population-based prevalence studies between 1980 and 2012. Meta-analysis and meta-regression were used to calculate the pooled size of effect and to identify the sources of variation.RESULTS: A total of 27 articles using data from regional surveys were included in the review. Results showed that the combined prevalence was 5.7% (95% CI: 5.3%-6.1%). Combined prevalence rates of 1-year and 2-year infertility in newly married couples were 12.5% (95% CI: 9.5%-15.4%) and 6.6% (95% CI: 4.9%-8.4%), respectively, while were respectively 6.4% (95% CI: 4.2%-8.6%) and 3.0% (95% CI: 2.6%-3.3%), in women of reproductive age. Results from Meta-regression showed that the prevalence of 2-year infertility was lower than that of 1-year while infertility in regions was seen higher under the poor socioeconomic condition than in the better regions. Infertility in studies using cohort or prospective studies was seen to be higher than in other studies.CONCLUSION: Owing to the inconsistency in determining the numerator and denominator that were used to calculate the prevalence of infertility as well as the inconsistency in criteria used to define the infertility, an agreed definition on infertility needs to be followed, in order to facilitate the comparison among studies.

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