Evidence map›Paper›PMID 29079751›Full record

ArticleScientific reports2017

A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR.

Satu Wedenoja, Ahlam Khamaysi, Liana Shimshilashvili, Shireen Anbtawe-Jomaa, Outi Elomaa, Jorma Toppari, Pia Höglund, Kristiina Aittomäki, Christer Holmberg, Outi Hovatta and 3 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 1 pooled it
1.6field-weighted citation impact, top 15% 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

21 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 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

13 authors at 4 institutions in 4 countries.

Satu WedenojaObstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, FI-00014, Helsinki, Finland. satu.wedenoja@helsinki.fi.
Ahlam KhamaysiDepartment of Clinical Biochemistry and Pharmacology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Liana ShimshilashviliDepartment of Clinical Biochemistry and Pharmacology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Shireen Anbtawe-JomaaDepartment of Clinical Biochemistry and Pharmacology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Outi ElomaaFolkhälsan Institute of Genetics, and Molecular Neurology Research Program, University of Helsinki, FI-00014, Helsinki, Finland.
Jorma ToppariDepartment of Physiology, Institute of Biomedicine, University of Turku, and Department of Pediatrics, Turku University Hospital, FI-20014, Turku, Finland.ORCID 0000-0003-2228-334X
Pia HöglundCity of Kauniainen, Health Care Services, FI-02700, Kauniainen, Finland.
Kristiina AittomäkiHUSLAB, Laboratory of Genetics, Helsinki University Hospital, and Genome-Scale Biology research program, University of Helsinki, FI-00029, Helsinki, Finland.
Christer HolmbergHospital for Children and Adolescents, University of Helsinki and Helsinki University Hospital, FI-00014, Helsinki, Finland.
Outi HovattaDepartment of Clinical Science, Karolinska Institutet, SE-17177, Stockholm, Sweden.ORCID 0000-0001-5395-3807
Juha S TapanainenObstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, FI-00014, Helsinki, Finland.
Ehud OhanaDepartment of Clinical Biochemistry and Pharmacology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel. ohanaeh@bgu.ac.il.
Juha KereFolkhälsan Institute of Genetics, and Molecular Neurology Research Program, University of Helsinki, FI-00014, Helsinki, Finland.ORCID 0000-0003-1974-0271
University of Helsinki · FIBen-Gurion University of the Negev · ILKarolinska Institutet · SEUniversity of Turku · FI

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Chloride absorption and bicarbonate excretion through exchange by the solute carrier family 26 member 3 (SLC26A3) and cystic fibrosis transmembrane conductance regulator (CFTR) are crucial for many tissues including sperm and epithelia of the male reproductive tract. Homozygous SLC26A3 mutations cause congenital chloride diarrhea with male subfertility, while homozygous CFTR mutations cause cystic fibrosis with male infertility. Some homozygous or heterozygous CFTR mutations only manifest as male infertility. Accordingly, we studied the influence of SLC26A3 on idiopathic infertility by sequencing exons of SLC26A3 in 283 infertile and 211 control men. A heterozygous mutation c.2062 G > C (p.Asp688His) appeared in nine (3.2%) infertile men, and additionally, in two (0.9%) control men, whose samples revealed a sperm motility defect. The p.Asp688His mutation is localized in the CFTR-interacting STAS domain of SLC26A3 and enriched in Finland, showing a significant association with male infertility in comparison with 6,572 Finnish (P < 0.05) and over 120,000 global alleles (P < 0.0001) (ExAC database). Functional studies showed that while SLC26A3 is a strong activator of CFTR-dependent anion transport, SLC26A3-p.Asp688His mutant retains normal Cl

Indexed as

Mutation, MissenseAmino Acid SequenceChloride-Bicarbonate AntiportersCystic Fibrosis Transmembrane Conductance RegulatorHeterozygoteHumansInfertility, MaleMaleModels, MolecularProtein ConformationSulfate TransportersCFTR protein, humanChloride-Bicarbonate AntiportersCystic Fibrosis Transmembrane Conductance RegulatorSLC26A3 protein, humanSulfate Transporters

Identifiers

PMID29079751
PMCPMC5660164
OpenAlexW2765800059

What OpenQuestion holds

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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.