Evidence map›Paper›PMID 31713353›Full record

ArticleMolecular genetics & genomic medicine2020

Association of single nucleotide polymorphisms at 20q12 with nonsyndromic cleft lip with or without cleft palate in a Southern Chinese Han cohort.

Yunpu He, Liheng Huang, Yuqian Zheng, Jian-Huan Chen, Shijie Tang

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 29% of its field
1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 3 citations in OpenAlex.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors at 4 institutions in 2 countries.

Yunpu HeDepartment of Plastic Surgery and Burn Center, The Second Affiliated Hospital, Shantou University Medical College, Shantou, Guangdong, China.ORCID 0000-0002-9849-2925
Liheng HuangDepartment of Anesthesiology, Shantou Central Hospital, Shantou, Guangdong, China.
Yuqian ZhengJoint Shantou International Eye Center of Shantou University, Chinese University of Hong Kong, Shantou, Guangdong, China.
Jian-Huan ChenJoint Shantou International Eye Center of Shantou University, Chinese University of Hong Kong, Shantou, Guangdong, China.ORCID 0000-0001-8714-2543
Shijie TangDepartment of Plastic Surgery and Burn Center, The Second Affiliated Hospital, Shantou University Medical College, Shantou, Guangdong, China.
Shantou University · CNChinese University of Hong Kong · HKJiangnan University · CNShantou Central Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundNonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common congenital malformation in the world. Both environment and genetics are involved with the etiology of the disease. Genome-wide association studies have identified two single nucleotide polymorphisms (SNPs) at chromosome 20q12 to be associated with NSCL/P. The current study aimed to explore the association of the two SNPs at 20q12 with NSCL/P and different subtypes in a Southern Chinese Han cohort.

methodsA total of 430 NSCL/P patients and 451 controls were recruited in the current study. Two SNPs including rs17820943 and rs6072081 at 20q12 were genotyped in the study cohort using Taqman SNP genotyping analysis. Chi-Square test was used to compare allele and genotype frequencies of NSCL/P patients and control group.

resultsCase-control analysis showed that the allele and genotype of rs17820943 and rs6072081 were significantly associated with NSCL/P (p < .01). Comparison between subtypes of NSCL/P and controls showed that frequencies of the G allele and GG genotype of rs6072081 (p = 4.52 × 10

conclusionThese results showed that rs17820943 and rs6072081 at 20q12 were associated with NSCL/P, especially with the CLP subtype in a Southern Chinese Han cohort.

Indexed as

Polymorphism, Single NucleotideChildChild, PreschoolChinaChromosomes, Human, Pair 20Cleft LipCleft PalateFemaleHumansMale20q12.nonsyndromic cleft lip with or without cleft palate (NSCL/P)single nucleotide polymorphism (SNP)

Identifiers

PMID31713353
PMCPMC6978266
OpenAlexW2987978969

What OpenQuestion holds

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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.