Sun Y.,Tsinghua University |
Sun Y.,CapitalBio corporation |
Sun Y.,CAS Institute of Process Engineering |
Huang Y.,Ningxia Medical University |
And 41 more authors.
Nature Communications | Year: 2015
Nonsyndromic cleft lip with or without a cleft palate (NSCL/P) is among the most common human congenital birth defects and imposes a substantial physical and financial burden on affected individuals. Here, we conduct a case-control-based GWAS followed by two rounds of replication; we include six independent cohorts from China to elucidate the genetic architecture of NSCL/P in Chinese populations. Using this combined analysis, we identify a new locus at 16p13.3 associated with NSCL/P: rs8049367 between CREBBP and ADCY9 (odds ratio=0.74, P=8.98 × 10 -12). We confirm that the reported loci at 1q32.2, 10q25.3, 17p13.1 and 20q12 are also involved in NSCL/P development in Chinese populations. Our results provide additional evidence that the rs2235371-related haplotype at 1q32.2 could play a more important role than the previously identified causal variant rs642961 in Chinese populations. These findings provide information on the genetic basis and mechanisms of NSCL/P. © 2015 Macmillan Publishers Limited. All rights reserved. Source
Yin A.,Prenatal Diagnosis Center |
Yin A.,Maternal and Children Metabolic Genetic Key Laboratory |
Yin A.,Thalassemia Diagnosis Center |
Li B.,Thalassemia Diagnosis Center |
And 39 more authors.
PLoS ONE | Year: 2014
Objective: To reveal the familial prevalence and molecular variation of α- and β-globin gene mutations in Guangdong Province. Methods: A total of 40,808 blood samples from 14,332 families were obtained and analyzed for both hematological and molecular parameters. Results: A high prevalence of α- and β-globin gene mutations was found. Overall, 17.70% of pregnant women, 15.94% of their husbands, 16.03% of neonates, and 16.83% of couples (pregnant women and their husbands) were heterozygous carriers of α- or β-thalassemia. The regions with the highest prevalence were the mountainous and western regions, followed by the Pearl River Delta; the region with the lowest prevalence was Chaoshan. The total familial carrier rate (both spouses were α- or β-thalassemia carriers) was 1.87%, and the individual carrier rates of α- and β-thalassemia were 1.68% and 0.20%, respectively. The total rate of moderate-to-severe fetal thalassemia was 12.78% among couples in which both parents were carriers. Conclusions: There was a high prevalence of α- and β-thalassemia in Guangdong Province. This study will contribute to the development of thalassemia prevention and control strategies in Guangdong Province. © 2014 Yin et al. Source