Study on the association between transforming growth factor alpha gene TaqI variant and cleft lip with or without cleft palate / 中华流行病学杂志

<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSION</b>Our findings did not suggest an association between offspring TGFalpha TaqI variant and the increased risk of nsCL/P in Chinese population.</p>

Association between parental transforming growth factor alpha gene TaqI variant, paternal smoking and the cleft lip with or without cleft palate / 中华预防医学杂志

<p><b>OBJECTIVE</b>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, and the interaction with parental smoking.</p><p><b>METHODS</b>TGFalpha TaqI variant was detected using RFLP-PCR for DNA samples of the 170 triads with nsCL/P affected child. We performed the transmission/disequilibrium test (TDT) and the family-based association study (FBAT) to test the associations between this variant and risk of nsCL/P.</p><p><b>RESULTS</b>It was not found significant distortion of C2 allele at TGFalpha TaqI locus in nsCL/P groups (P > 0.05), however, by stratified analysis, we found that the rate of C2 allele transmission among nuclear families whose fathers were smoking was 1/5 (0.062 - 0.711) as compared with that among nuclear families whose fathers were not smoking, and the OR of interaction between TGFalpha variant and parental smoking is 0.102 (0.017 - 0.619).</p><p><b>CONCLUSION</b>The parental smoking may interact with TGFalpha variants of Chinese populations in occurrence of nsCL/P, but it remains to have more investigations.</p>

Prevalence of major external birth defects in high and low risk areas in China, 2003 / 中华流行病学杂志

<p><b>OBJECTIVE</b>To study the prevalence rates of birth defects in high and low risk areas in China.</p><p><b>METHODS</b>A population-based surveillance system on birth defects was used to obtain the prevalence rates of 24 kinds of major external birth defects from > or = 20 weeks of gestation to 7 days of life in selected areas in Shanxi and Jiangsu provinces.</p><p><b>RESULTS</b>The birth prevalence of birth defects (232.4 per 10,000 births) and neural tube defects (NTDs) (138.7 per 10,000 births) in four counties of Shanxi province were significantly higher than that in Taiyuan city (75.3 and 28.2 per 10,000 births, respectively). There was no significant difference for all selected birth defects between Wuxi city and Xishan counties in low risk areas. There was a 6.1-fold of higher prevalence for NTDs in Taiyuan city compared with that in Wuxi areas (4.6 per 10,000 births). In four counties of Shanxi province, the prevalence rates of anencephaly, spina bifida, hydrocephaly, cleft palate alone and polydactyly were significantly higher than in Wuxi areas. The NTDs prevalence rate in four counties of Shanxi was 30.2 times higher than in Wuxi areas. When compared with previous surveillance data, the NTDs prevalence rate did not present obvious declining trend in high risk areas. The birth prevalence rate had a 31.8% decrease when births were calculated after 28 gestational weeks and compared with those from 20 gestational weeks.</p><p><b>CONCLUSION</b>NTDs remained to be the most common birth defect seen in Shanxi province. The birth prevalence rate of NTDs in some areas of Shanxi province was among the highest that ever reported in the world in comparison with data from other countries and regions. The current prevalence rate in high risk areas in Shanxi province did not clearly show a declining trend. Programs on surveillance and prenatal diagnosis were proved to have made big impact on the rates of major external birth defects.</p>

Study on the association between reduced folate carrier gene polymorphism and congenital heart defects and cleft lip with or without cleft palate / 中华流行病学杂志

<p><b>OBJECTIVE</b>To study the association between reduced folate carrier gene (RFC1) polymorphism and congenital heart defects (CHD) as well as cleft lip with or without cleft palate (CLP) and to provide epidemiological evidence on genetic markers of CHD and CLP.</p><p><b>METHODS</b>RFC1 (A80G) genotype was detected using RFLP-PCR for blood DNA of the 67 triads with nonsyndromic CHD-affected child, the 82 triads with child-affected cleft lip with or without CLP and the 100 control families without child-affected birth defects. We performed a family-based association test and analyzed the interaction between RFC1 A80G genotype and maternal periconceptional supplementation of folic acid.</p><p><b>RESULTS</b>Offspring of mothers who did not take folic acid had an elevated risk for CHD when comparing with offspring of mothers who did (OR = 2.68, 95% CI: 1.14 - 6.41). There was a statistical association between the risk of CHD and maternal periconceptional folic acid supplementation (chi(2) = 6.213, P < 0.05). In the family-based association test, G allele was positively associated with an increased risk for children CHD (Z = 2.140, P < 0.05) while G allele of RFC1 (A80G) polymorphism might increase the risk for CHD. Elevated risks for either CLP group were not observed between RFC1 genotype using or not using folic acid.</p><p><b>CONCLUSION</b>Our findings suggested that the G allele was likely to be a genetically susceptible allele for CHD. There was possible association between offspring with GG, GA genotype and maternal periconceptional folicacid deficiency.</p>