Gene-Gene Interactions among <i>SPRY</i>s for Nonsyndromic Cleft Lip/Palate

Zhou, Ren; Wang, M.; Li, W.; Wang, Shuguang; Zhou, Zhibo; Li, J.; Wu, Tao; Zhu, Huaiqiu; Beaty, Terri H.

doi:10.1177/0022034518801537

Cited by 7 publications

(4 citation statements)

References 39 publications

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“…More recently, whole‐exome sequencing (WES) studies have confirmed the role of variants in known NSCLP genes ( IRF6 , CDH1 , CRISPLD2 , FGFR2 , and PAX7) and identified novel candidate genes ( CTNND1 , PLEKHA7 , PLEKHA5 , and ESRP2 ) (Bureau et al, ; Cox et al, ; Pengelly et al, ). Furthermore, there is increasing evidence supporting an additive role for gene–gene interactions in NSCLP, with modifier phenotypic effects (Carlson et al, ; Chiquet et al, ; Li et al, ; D. Liu et al, ; Velazquez‐Aragon et al, ; Zhou et al, ).…”

Section: Introductionmentioning

confidence: 99%

PBX‐WNT‐P63‐IRF6pathway in nonsyndromic cleft lip and palate

Maili

Letra

Silva

et al. 2019

Birth Defects Research

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Nonsyndromic cleft lip and palate (NSCLP) is one of the most common craniofacial anomalies in humans, affecting more than 135,000 newborns worldwide. NSCLP has a multifactorial etiology with more than 50 genes postulated to play an etiologic role. The genetic pathway comprised of Pbx-Wnt-p63-Irf6 genes was shown to control facial morphogenesis in mice and proposed as a regulatory pathway for NSCLP. Based on these findings, we investigated whether variation in PBX1, PBX2, and TP63, and their proposed interactions were associated with NSCLP. Fourteen single nucleotide variants (SNVs) in/nearby PBX1, PBX2, and TP63 were genotyped in 780 NSCLP families of nonHispanic white (NHW) and Hispanic ethnicities. Family-based association tests were performed for individual SNVs stratified by ethnicity and family history of NSCLP. Gene-gene interactions were also tested. A significant association was found for PBX2 rs3131300 and NSCLP in combined Hispanic families (p = .003) while nominal association was found for TP63 rs9332461 in multiplex Hispanic families (p = .005). Significant haplotype associations were observed for PBX2 in NHW (p = .0002) and Hispanic families (p = .003), and for TP63 in multiplex Hispanic families (.003). An independent case-control group was used to validate findings, and significant associations were found with PBX1 rs6426870 (p = .007) and TP63 rs9332461 (p = .03).

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Section: Introductionmentioning

confidence: 99%

PBX‐WNT‐P63‐IRF6pathway in nonsyndromic cleft lip and palate

Maili

Letra

Silva

et al. 2019

Birth Defects Research

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“…[ 60 ] The older people who live in developed cities are more vulnerable to air pollution than those who live in less developed areas. [ 61 ] Air pollution has adverse effects on respiratory diseases in different Chinese cities, according to research evidence. In Guangzhou, when the temperature is high, the interaction between PM10 and weather has a statistically significant effect on the death rate of respiratory diseases, especially in extreme cold weather.…”

Section: Impact Of Climate Change On Aging Health In Developing Count...mentioning

confidence: 99%

Climate Change and Aging Health in Developing Countries

et al. 2023

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The climate of the Earth has changed throughout history. Climate change negatively impacts human rights in a wide range of ways. The study aims to find out the impact of climate change on aging health in developing countries. The study found that public health will be devastated if climate change continues unabated. Countries that are least responsible for global warming are most susceptible to the effects of higher temperatures, such as death and disease. In low‐ and middle‐income countries, disasters are more likely to happen to people aged 60 and over. Although climate change affects all of us, older people are especially at risk from it, as evidenced by a growing body of research. The study also offers countermeasures and suggestions to develop aging health in developing countries affected by climate change.

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“…Although deleterious changes in these genes can cause cleft in model animals, the contribution of polymorphisms remains to be investigated. And these variants may not play roles independently [16].…”

Section: Introductionmentioning

confidence: 99%

An Association Study of Candidate Gene Variants in Chinese Nonsyndromic Cleft Lip with or without Palate Subjects

Niu

Chen

et al. 2020

Preprint

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Background: Nonsyndromic cleft lip with or without palate is a common birth defect of complex etiology involving the interaction of genetic factors and environmental exposures. Previous reports identified several candidate genes and risk variants of the disease, and their functions were verified by model animal studies. Methods: In order to depict the composition of the orofacial cleft susceptibility loci in Chinese population, we genotyped ten common SNPs of six genes (VAX1, MAFB, PAX7, ABCA4, NTN1 and NOG) in 249 nonsyndromic cleft lip with or without palate individuals, 62 nonsyndromic cleft palate only individuals and 480 controls. Results: Three loci: VAX1 rs7078160, MAFB rs11696257 and NTN1 rs4791774 showed significant relevance with NSCL/P. Carrying both VAX1 rs7078160 and NTN1 rs4791774 further increased the risk, compared with carrying only one of them. Conclusions: This result supported that SNPs of genes VAX1, MAFB and NTN1 are associated with NSCL/P in Chinese subjects.

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Gene-Gene Interactions among SPRYs for Nonsyndromic Cleft Lip/Palate

Cited by 7 publications

References 39 publications

PBX‐WNT‐P63‐IRF6pathway in nonsyndromic cleft lip and palate

PBX‐WNT‐P63‐IRF6pathway in nonsyndromic cleft lip and palate

Climate Change and Aging Health in Developing Countries

An Association Study of Candidate Gene Variants in Chinese Nonsyndromic Cleft Lip with or without Palate Subjects

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