Association between IRF6, TP63, GREM1 Gene Polymorphisms and Non-Syndromic Orofacial Cleft Phenotypes in Vietnamese Population: A Case-Control and Family-Based Study.

This study aims to identify potential variants in the TP63-IRF6 pathway and GREM1 for the etiology of non-syndromic orofacial cleft (NSOFC) among the Vietnamese population. By collecting 527 case-parent trios and 527 control samples, we conducted a stratified analysis based on different NSOFC phenotypes, using allelic, dominant, recessive and over-dominant models for case-control analyses, and family-based association tests for case-parent trios. Haplotype and linkage disequilibrium analyses were also conducted. IRF6 rs2235375 showed a significant association with an increased risk for non-syndromic cleft lip and palate (NSCLP) and cleft lip with or without cleft palate (NSCL/P) in the G allele, with pallele values of 0.0018 and 0.0003, respectively. Due to the recessive model (p = 0.0011) for the NSCL/P group, the reduced frequency of the GG genotype of rs2235375 was associated with a protective effect against NSCL/P. Additionally, offspring who inherited the G allele at rs2235375 had a 1.34-fold increased risk of NSCL/P compared to the C allele holders. IRF6 rs846810 and a G-G haplotype at rs2235375-rs846810 of IRF6 impacted NSCL/P, with p-values of 0.0015 and 0.0003, respectively. In conclusion, our study provided additional evidence for the association of IRF6 rs2235375 with NSCLP and NSCL/P. We also identified IRF6 rs846810 as a novel marker associated with NSCL/P, and haplotypes G-G and C-A at rs2235375-rs846810 of IRF6 associated with NSOFC.

Changes in the birth prevalence of orofacial clefts in Japan: Has the birth prevalence of orofacial clefts been affected by improved accuracy of prenatal diagnosis?

We have been conducting a survey on the birth prevalence of orofacial clefts, including cleft lip with or without cleft palate and cleft palate, in the Tokai area in central Japan every year for 37 years. Along with the yearly trends in the birth prevalence of orofacial clefts in that area for the past 37 years, we discuss whether the artificial abortion rate of fetuses with orofacial clefts has increased through the improved performance of ultrasonic imaging equipment. We also compare the yearly trends in the birth prevalence of congenital anomalies, including orofacial clefts, in Japan with those in other countries or areas where artificial abortion due to birth defects is legally permitted, and discuss the impact of improved accuracy of ultrasound imaging on the rate of artificial termination of pregnancy. The fact that the birth prevalence of orofacial clefts has basically remained unchanged for more than 30 years, even with recent more detailed prenatal diagnosis based on the improvement of ultrasonic diagnostic equipment, has allowed us tentatively to conclude that prenatal diagnosis is not currently threatening the right to life of the fetuses with orofacial clefts.

Oxidative stress responses to feeding activity and salinity level in brackish water clam Corbicula japonica.

Three laboratory-scale experiments were conducted to assess the oxidative stress responses of brackish water clam Corbicula japonica to feeding activity and salinity level. Natural brackish water from Lake Hinuma was used in experiments I and II, while experiment III used artificial brackish water with cultured diatoms as the food source. During experiment I, the oxygen radical absorbance capacity (ORAC) varied greatly when the initial suspended solids (SS) concentration was 50 mg SS·L-1. As a result, no significant difference in ORAC was found between the initial SS concentrations of 5 and 50 mg SS·L-1 (p > 0.05). In contrast, during experiment II, ORAC decreased from 6.4 to 3.5 µmol Trolox Equivalent (TE)·mg protein-1 at the SS concentration of ~5 mg SS·L-1 (p < 0.05). The rate of carbon uptake in experiment I (SS concentration = 5 mg SS·L-1) was ~2.3 times greater than that in experiment II. These results indicate that SS availability has a great effect on ORAC in C. japonica. During experiment III, ORAC increased under initial SS concentrations of 0 and 40 mg SS·L-1 at salinities of 10 (p < 0.01) and 20 psu (p < 0.05), respectively. In contrast, ORAC decreased significantly decreased during the experiment for SS concentration = 80 mg SS·L-1 and salinity = 20 psu (p < 0.01) and for SS concentration = 120 mg SS·L-1 and salinity = 10 or 20 psu (p < 0.01); ATP content also decreased significantly (p < 0.01). A good correlation was found between the change in ATP content and ORAC. Together, the findings suggest that energy availability and salinity level have strong effects on antioxidant capacity in C. japonica.