Evidence map›Paper›PMID 29304743›Full record

ArticleBMC bioinformatics2018

A powerful parent-of-origin effects test for qualitative traits on X chromosome in general pedigrees.

Qi-Lei Zou, Xiao-Ping You, Jian-Long Li, Wing Kam Fung, Ji-Yuan Zhou

Open access · goldAbstract read
In one paragraph

Article in BMC bioinformatics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 28% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
  2. Article
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

5 authors at 2 institutions in 2 countries.

Qi-Lei ZouState Key Laboratory of Organ Failure Research, Ministry of Education, and Guangdong Provincial Key Laboratory of Tropical Disease Research, Department of Biostatistics, School of Public Health, Southern Medical University, No. 1023, South Shatai Road, Baiyun District, Guangzhou, 510515, China.
Xiao-Ping YouState Key Laboratory of Organ Failure Research, Ministry of Education, and Guangdong Provincial Key Laboratory of Tropical Disease Research, Department of Biostatistics, School of Public Health, Southern Medical University, No. 1023, South Shatai Road, Baiyun District, Guangzhou, 510515, China.
Jian-Long LiState Key Laboratory of Organ Failure Research, Ministry of Education, and Guangdong Provincial Key Laboratory of Tropical Disease Research, Department of Biostatistics, School of Public Health, Southern Medical University, No. 1023, South Shatai Road, Baiyun District, Guangzhou, 510515, China.
Wing Kam FungDepartment of Statistics and Actuarial Science, University of Hong Kong, Pokfulam Road, Hong Kong, China. wingfung@hku.hk.
Ji-Yuan ZhouState Key Laboratory of Organ Failure Research, Ministry of Education, and Guangdong Provincial Key Laboratory of Tropical Disease Research, Department of Biostatistics, School of Public Health, Southern Medical University, No. 1023, South Shatai Road, Baiyun District, Guangzhou, 510515, China. zhoujiyuan5460@hotmail.com.ORCID 0000-0003-0866-4402
Southern Medical University · CNUniversity of Hong Kong · HK

Funding

GENETIC ANALYSIS OF COMMON DISEASES: AN EVALUATIONR01GM031575 · NIGMS · UNIVERSITY OF TEXAS RIO GRANDE VALLEY · PI ALMASY, LAURA A. · 1985 to 2016
$7.8M
NARAC The Genetics of Rheumatoid ArthritisR01AR044422 · NIAMS · NORTH SHORE UNIVERSITY HOSPITAL · PI GREGERSEN, PETER K. · 1997 to 2011
$6.0M
National Natural Science Foundation of China 81373098National Natural Science Foundation of China 81573207National Natural Science Foundation of China 81773544NIAMS NIH HHS R01 AR044422NIGMS NIH HHS R01 GM031575NIH HHS N01-AR-2-2263NIH HHS R01-AR-44422NIH HHS R01 GM031575Science and Technology Planning Project of Guangdong Province, China 2013B021800038The Hong Kong Research Grants Council GRF Grant 17301715
6 · The paper itself

Abstract

backgroundGenomic imprinting is one of the well-known epigenetic factors causing the association between traits and genes, and has generally been examined by detecting parent-of-origin effects of alleles. A lot of methods have been proposed to test for parent-of-origin effects on autosomes based on nuclear families and general pedigrees. Although these parent-of-origin effects tests on autosomes have been available for more than 15 years, there has been no statistical test developed to test for parent-of-origin effects on X chromosome, until the parental-asymmetry test on X chromosome (XPAT) and its extensions were recently proposed. However, these methods on X chromosome are only applicable to nuclear families and thus are not suitable for general pedigrees.

resultsIn this article, we propose the pedigree parental-asymmetry test on X chromosome (XPPAT) statistic to test for parent-of-origin effects in the presence of association, which can accommodate general pedigrees. When there are missing genotypes in some pedigrees, we further develop the Monte Carlo pedigree parental-asymmetry test on X chromosome (XMCPPAT) to test for parent-of-origin effects, by inferring the missing genotypes given the observed genotypes based on a Monte Carlo estimation. An extensive simulation study has been carried out to investigate the type I error rates and the powers of the proposed tests. Our simulation results show that the proposed methods control the size well under the null hypothesis of no parent-of-origin effects. Moreover, XMCPPAT substantially outperforms the existing tests and has a much higher power than XPPAT which only uses complete nuclear families (with both parents) from pedigrees. We also apply the proposed methods to analyze rheumatoid arthritis data for their practical use.

conclusionsThe proposed XPPAT and XMCPPAT test statistics are valid and powerful in detecting parent-of-origin effects on X chromosome for qualitative traits based on general pedigrees and thus are recommended.

Indexed as

Chromosomes, Human, XGenomic ImprintingArthritis, RheumatoidGenotypeHumansMonte Carlo MethodPedigreePolymorphism, Single NucleotideImprinting effectsParental-asymmetry testParent-of-origin effectsPedigreeQualitative traitX chromosome

Identifiers

PMID29304743
PMCPMC5756386
OpenAlexW2781928445

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.