Evidence map›Paper›PMID 33047712›Full record

ArticleBeijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences2020

[Exploring parent-of-origin effects for non-syndromic cleft lip with or without cleft palate on

W Y Li, M Y Wang, R Zhou, S Y Wang, H C Zheng, H P Zhu, Z B Zhou, T Wu, H Wang, B Shi

Open access · greenAbstract read

In one paragraph

Article in Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing papers in PubMed

–field-weighted citation impact, top 88% of its field

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 1 institution in 1 country.

W Y LiDepartment of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China.

M Y WangDepartment of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China.

R ZhouDepartment of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China.

S Y WangDepartment of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China.

H C ZhengDepartment of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China.

H P ZhuDepartment of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology, Beijing 100081, China.

Z B ZhouDepartment of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology, Beijing 100081, China.

T WuDepartment of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China.

H WangDepartment of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China.

B ShiDepartment of Oral and Maxillofacial Surgery, State Key Laboratory of Oral Disease, West China College of Stomatology, Sichuan University, Chengdu 610041, China.

Peking University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveNon-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect, affecting 1.4 per 1 000 live births, and multiple genetic and environmental risk factors influencing its risk. All the known genetic risk factors accounted for a small proportion of the heritability. Several authors have suggested parent-of-origin effects (PoO) may play an important role in the etiology of this complex and heterogeneous malformation. To clarify the genetic association between

methodsWe tested for transmission disequilibrium tests (TDT) and PoO effects using 83 common single nucleotide polymorphic (SNP) markers of HH pathway genes from 806 NSCL/P case-parent trios. These trios were drawn from an international consortium established for a genome-wide association studies (GWAS) of non-syndromic oral clefts of multiple ethnicities. DNA samples were collected from each trio. Single marker and haplotype based analysis were performed both in TDT tests and PoO effects. SNPs were excluded if they (ⅰ) had a call rate of < 95%, (ⅱ) had a minor allele frequency (MAF) of < 0.05, (ⅲ) had Mendelian errors over all trios of >5%, (ⅳ) had a genotype distribution in the parents that deviated from the Hardy-Weinberg equilibrium (HWE) (

resultsA total of 18 SNPs were dropped due to low MAF, thus leaving 65 SNPs available for the analysis. Thus the Bonferroni threshold was 7.7×10

conclusionNeither significant association between SNPs within HH pathway and the risk of NSCL/P nor PoO effects was seen in this study.

Indexed as

Cleft LipCleft PalateAsian PeopleGenome-Wide Association StudyHedgehog ProteinsHumansPatched-2 ReceptorSmoothened ReceptorHedgehog ProteinsPatched-2 ReceptorPTCH2 protein, humanSHH protein, humanSmoothened ReceptorSMO protein, humanHedgehog pathwayNon-syndromic cleft lip with or without cleft palateParent-of-origin effects

Identifiers

PMID33047712

PMCPMC7653437

OpenAlexW3092442547

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.