Evidence map›Paper›PMID 8644712›Full record

ArticleAmerican journal of human genetics1996

Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246.

E N Levy, Y Shen, A Kupelian, L Kruglyak, I Aksentijevich, E Pras, J E Balow, B Linzer, X Chen, D A Shelton and 7 more

Open access · greenAbstract readMulticenter Study
In one paragraph

Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
2.3field-weighted citation impact, top 11% 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

6 citing papers in PubMed, 29 citations in OpenAlex.

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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

17 authors at 7 institutions in 3 countries.

E N LevyArthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892-1820, USA.
Y Shen
A Kupelian
L Kruglyak
I Aksentijevich
E Pras
J E Balow
B Linzer
X Chen
D A Shelton
D Gumucio
M Pras
M Shohat
J I Rotter
N Fischel-Ghodsian
R I Richards
D L Kastner
National Institutes of Health · USCedars-Sinai Medical Center · USWomen's and Children's Hospital · AURabin Medical Center · ILSheba Medical Center · ILUniversity of Michigan–Ann Arbor · USWhitehead Institute for Biomedical Research · US

Funding

NHGRI NIH HHS HG00017
6 · The paper itself

Abstract

This report presents refined genetic mapping data for the gene causing familial Mediterranean fever (FMF), a recessively inherited disorder of inflammation. We sampled 65 Jewish, Armenian, and Arab families and typed them for eight markers from chromosome 16p. Using a new algorithm that permits multipoint calculations for a dense map of markers in consanguineous families, we obtained a maximal LOD score of 49.2 at a location 1.6 cM centromeric to D16S246. A specific haplotype at D16S283-D16S94-D16S246 was found in 76% of Moroccan and 32% of non-Moroccan Jewish carrier chromosomes, but this haplotype was not overrepresented in Armenian or Arab FMF carriers. Moreover, the 2.5-kb allele at D16S246 was significantly associated with FMF in Moroccan and non-Moroccan Jews but not in Armenians or Arabs. Since the Moroccan Jewish community represents a relatively recently established and genetically isolated founder population, we analyzed the Moroccan linkage-disequilibrium data by using Luria-Delbrück formulas and simulations based on a Poisson branching process. These methods place the FMF susceptibility gene within 0.305 cM of D16S246 (2-LOD-unit range 0.02-0.64 cM).

Indexed as

Chromosome MappingChromosomes, Human, Pair 16Linkage DisequilibriumAlgorithmsAllelesArabsArmeniaComputer SimulationFamilial Mediterranean FeverHaplotypesHeterozygoteHumansJewsMorocco

Identifiers

PMID8644712
PMCPMC1914560
OpenAlexW1528194826

What OpenQuestion holds

Textmetadata
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.