Biomedical subjects

Li-jun Pei

Publications and source records attributed to Li-jun Pei.

6 recordsLinked to original sources

PubMed2006

[Study on the association between transforming growth factor alpha gene TaqI variant and cleft lip with or without cleft palate].

OBJECTIVE: To study the association between transforming growth factor alpha gene (TGFalpha) TaqI variant and nonsyndromic cleft lip with or without cleft palate (nsCL/P) in Chinese population. METHODS: TGFalpha TaqI variant was detected using polymerase chain reaction-restriction fragment length polymorphism for DNA samples of the 149 triads with nsCL/P affected child. We performed the Transmission/disequilibrium test and the family-based association study (FBAT) to identify the associations between this variant and risk of nsCL/P. RESULTS: Significant distortion of C2 allele at TGFalpha TaqI locus in nsCL/P groups (P > 0.05) was not found. In the family-based association test, C2 allele and offspring C2C1 genotype was not found to be significantly associated with an increase risk of nsCL/P (P > 0.05). CONCLUSION: Our findings did not suggest an association between offspring TGFalpha TaqI variant and the increased risk of nsCL/P in Chinese population.

Child↗

PubMed2005

[Epidemiological study on reduced folate carrier gene(RFC1 A80G) polymorphism and other risk factors of neural tube defects].

OBJECTIVE: To study the reduced folate carrier gene (RFC1) A80G polymorphism and other factors influence on children with neural tube defects (NTDs) and provide the epidemiological evidence for finding genetic marker of NTDs. METHODS: RFC1(A80G) genotypes were detected using polymerase chain reaction-restriction fragment length polymorphism (RFLP-PCR) for blood DNA of 104 trios with NTDs-affected by child, and the 100 control families without child-affected by any birth defects. We performed the analysis of multifactors logistic regression for RFC1 genotypes and other factors in order to investigate the RFC1 genotype of the nuclear families and maternal periconceptional folic acid supplementation influence on NTDs independently. Transmission/disequilibrium test (TDT) for the RFC1 genotype of NTDs and control pedigree were carried out. RESULTS: The RFC1 G allele frequency of children with NTDs (64.42%) was higher than that of the control children (52.53%), and there was the significant difference between them (chi(2)=5.9198, P<0.05). We observed that the infants of the GG genotype were associated with a 2.56-fold increased risk of NTDs when compared with the AA genotype (95% CI=1.04-6.36), The risk of mothers who did not take folic acid for having an NTDs-affected infants was 7.69 (95% CI=2.86-21.75). There were significant differences between cases and controls in the other risk factors, such as paternal age (> or =30), maternal fever during the early pregnancy, the history of maternal spontaneous abortion. In the logistic regression analysis, of multifactors the three factors, for example, the offspring of the RFC1 GG genotype (OR=2.91, 95% CI=1.35-6.30), maternal periconceptional folic acid supplementation (OR=4.32, 95% CI=1.62-11.55), maternal fever during the early pregnancy, had the statistic significance for the risk of NTDs. There was the evidence of an association between G allele and the risk of the maternal having a child with NTDs (OR=1.56, 95% CI=1.07-2.28) in TDT analysis. CONCLUSION: Our findings indicate that the RFC1 genotype (GG) is a possible susceptible gene marker for an increased NTDs risk in this Chinese population, and there is a potential influence on the risk of NTDs in maternal periconceptional folic acid supplementation, and maternal fever during the early pregnancy.

Adult↗

PubMed2005

Interaction between maternal periconceptional supplementation of folic acid and reduced folate carrier gene polymorphism of neural tube defects.

OBJECTIVE: To search the interaction between reduced folate carrier gene (RFC1 A80G) polymorphism of children with neural tube defects (NTDs) and maternal periconceptional no supplementation of folic acid. The purpose is to provide the epidemiological evidence for finding genetic marker of NTDs. METHODS: RFC1 (A80G) genotype was detected using PCR-restricted fragment length polymorphism for the blood DNA of 104 trios with NTDs-affected child, and 100 control families with non-malformed control children. The authors investigated the gene-environment interactions between the offspring RFC1 genotype and maternal periconceptional folic acid supplementation through a case-control study. RESULTS: It was observed that the offspring with the GG genotype were associated with a 2.56-fold increased risk of NTDs when compared to those with the AA genotype (OR = 2.56; 95% CI = 1.04-6.36) in this population under investigation. The risk of mothers who did not take folic acid for having an NTDs-affected infants was 7.69 (95% CI = 2.86-21.75). Among the mothers who did not utilize folic acid supplements, the NTDs risk was 3.30 (95% CI = 1.15-9.65) for offspring with the GG genotype, compared to the reference (AA) genotype. Children who had the GG genotype and whose mothers did not take folic acid had an elevated risk for NTDs (OR = 8.80, 95% CI = 2.86 - 29.82), compared to "offspring with AA or GA genotype" and "maternal folic acid use", the interactive coefficient being 1.45. CONCLUSION: The above findings indicate that the RFC1 genotype (GG) is a possible susceptible gene marker for an increased NTDs risk in Chinese population, and there is a potential gene-nutrient interaction between offspring RFC1 GG genotype and maternal periconceptional intake of folic acid on the risk of NTDs. However,the sample size of this study was limited, a larger sample of population-based study is required to pursue the initial observation.

Adult↗

PubMed2005

[A parental case control study on the association between reduced folate carrier gene polymorphism and neural tube defects].

OBJECTIVE: To study the association between reduced folate carrier gene (RFC1 A80G) polymorphism and the risk for child with neural tube defects (NTDs), and to provide epidemiological evidence for the existence of NTDs genetic marker. METHODS: RFC1 (A80G) genotypes were detected using RFLP-PCR for blood DNA of 104 families with NTDs-affected children and 100 control families with no history of child-affected birth defects. Case-control study and transmission/disequilibrium test(TDT) for the RFC1 genotype of NTDs pedigree were carried out. RESULTS: The G allele frequency of children with NTDs was higher than that of controls when compared to A allele( OR = 1. 64, 95% CI :1.08-2.49). The offspring of the GG genotype were associated with a 2.56-fold increased risk of NTDs when compared to the AA genotype (OR = 2.56, 95% CI: 1.04-6.36) in our study population. There was evidence of association between G allele and the risk of parent having a child with NTDs (OR = 1.56, 95% CI: 1.07-2.28) in the TDT analysis. CONCLUSION: Our findings indicated that there was potential association between offspring RFC1 GG genotype and the risk of NTDs, and the G allele was a possible susceptible gene marker for an increased NTDs risk in the Chinese population.

Case-Control Studies↗

PubMed2005

[A case control study on the relationship between trace elements and human neural tube defects].

OBJECTIVE: To explore the relationship between multi-trace elements levels in hair and human neural tube defects as well as other risk factors. METHODS: Using 88 paired cases and controls, an 1:1 matched case control study was carried out. The study subjects were collected from the China-U. S. Collaborative Project on Neural Tube Defects Prevention and Birth Defects Surveillance System. Risk factors were obtained by field investigation with standardized questionnaires and hair trace elements levels were determined by AAS and ICP-MS methods. Microwave digestion was used to digest hair samples. The detected elements would include three groups, namely nutritional elements: Cr, Mn, Cu, Zn, Co, Mo; toxic elements: Pb, As, Cd, Hg; and Lanthanons: Y, La, Pr, Nd. Cox Proportional Hazard Regression Model was used to perform risk factors analysis. RESULTS: Pregnancy fever appeared to be a risk factor of neural tube defects (OR = 6.525, P = 0.034) while hair zinc level (OR = 0.541 microg/100 g, P = 0.02) and times of prenatal physical examination (OR = 0.634, P < 0.001) served as two protective factors appeared in the last model. CONCLUSION: Zinc deficiency might serve as a risk factor for human neural tube defects, suggesting that the avoidance of pregnancy infection together with more periodical prenatal physical examination might reduce the incidence of neural tube defects.

Adult↗

PubMed2003

[The epidemiology of neural tube defects in high-prevalence and low-prevalence areas of China].

OBJECTIVE: To describe the epidemiology of neural tube defects (NTDs) in high- and low-prevalence areas of China. METHODS: Birth defects surveillance data, collected from 1992 through 1994 was analyzed. These data were collected as part of the Sino-American cooperative project on NTDs prevention. We classified NTDs as anencephaly, encephalocele, high-level and low-level spina bifida (SB) according to location of the lesion (high vs low) and whether the defect was isolated or occurred in association with other birth defects. Rates were compared in the high-prevalence (North) region and the low-prevalence (South) region, after adjusted for classification, urban and rural, season and sex, and calculated the adjusted rate of NTDs. RESULTS: Among seven hundred and eighty-four NTDs cases in 326 874 recorded births (include in livebirth, stillbirth and fetal death with a gestational age of at least 20 weeks), the overall NTDs prevalence in the North was 5.57/1,000 births, and in the South was 0.88/1 000. There were also significant differences in the prevalence of anencephaly, encephalocele, high-level and low-level SB between North (0.97, 0.49, 2.75 and 1.11/1,000 birth) and South (0.36, 0.15, 0.21 and 0.14/1,000 birth) (P < 0.01), with adjusted prevalences in the North 3 - 7 times higher than those in the South. There were significant difference between urban (2.04) and rural areas (6.57/1,000 birth) in the North (P < 0.01), urban (0.52) and rural areas (0.95/1,000 birth) in the South (P < 0.05). Adjusted prevalence rates in the rural were 3 - 4 times higher than those of urban in the North and 1.6 - 1.9 times higher than in the South; The seasonal rate of high-level SB increased between September and November in the North (3.44/1,000 birth), while the seasonal rate of anencephaly decreased between September and November (0.18/1,000 birth) in the South. However there were no seasonal changes in other classified NTDs both in the South and North. CONCLUSIONS: The birth prevalence of NTDs in the North of China was the highest in the world. There were significant differences between the North and the South, urban and rural. There was seasonal change in high-level SB in the North, which was in accordance to the phenotype of NTDs. It was suggested that there might exist etiological heterogeneity among anecephalus, low- and high-level SB.

China↗