Mutation Analysis Facility (MAF)

Regional Facility of National Interest 2013–2016.

Started: 2013

Ended: 2016

69 publications

Year 2016

Characterization of genetic variation in TLR8 in relation to allergic rhinitis.
Henmyr V, Lind-Halldén C, Carlberg D, ..., Säll T, Cardell LO
Allergy 71 (3) 333-341 [2016-03-00; online 2015-11-12]
Mutation Analysis Facility (MAF)

Year 2015

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.
Paternoster L, Standl M, Waage J, ..., Weidinger S, EArly Genetics and Lifecourse Epidemiology (EAGLE) Eczema Consortium
Nat. Genet. 47 (12) 1449-1456 [2015-12-00; online 2015-10-21]
Mutation Analysis Facility (MAF)
Meta-analysis identifies seven susceptibility loci involved in the atopic march.
Marenholz I, Esparza-Gordillo J, Rüschendorf F, ..., Henderson AJ, Lee YA
pii: ncomms9804 pmc: PMC4667629
Nat Commun 6 (-) 8804 [2015-11-06; online 2015-11-06]
Mutation Analysis Facility (MAF)
Predisposition to Childhood Otitis Media and Genetic Polymorphisms within the Toll-Like Receptor 4 (TLR4) Locus.
Hafrén L, Einarsdottir E, Kentala E, ..., Kere J, Mattila PS
pii: PONE-D-15-06828 pmc: PMC4503307
PLoS ONE 10 (7) e0132551 [2015-07-15; online 2015-07-15]
Mutation Analysis Facility (MAF)
HHEX_23 AA Genotype Exacerbates Effect of Diabetes on Dementia and Alzheimer Disease: A Population-Based Longitudinal Study.
Xu WL, Pedersen NL, Keller L, ..., Bäckman L, Fratiglioni L
pii: PMEDICINE-D-14-02434 pmc: PMC4501827
PLoS Med. 12 (7) e1001853 [2015-07-00; online 2015-07-14]
Mutation Analysis Facility (MAF)
The role of genetic factors for hearing deterioration across 20 years: a twin study.
Bogo R, Farah A, Johnson AC, ..., Svartengren M, Skjönsberg Å
pii: glu245
J. Gerontol. A Biol. Sci. Med. Sci. 70 (5) 647-653 [2015-05-00; online 2015-02-11]
Mutation Analysis Facility (MAF)
The GH receptor exon 3 deleted/full-length polymorphism is associated with central adiposity in the general population.
Glad CA, Carlsson LM, Melander O, ..., Svensson PA, Johannsson G
pii: EJE-14-0723
Eur. J. Endocrinol. 172 (2) 123-128 [2015-02-00; online 2014-11-14]
Mutation Analysis Facility (MAF)
Associations between the 17q21 region and allergic rhinitis in 5 birth cohorts.
Fuertes E, Söderhäll C, Acevedo N, ..., Carlsten C, Melén E
pii: S0091-6749(14)01188-9
J. Allergy Clin. Immunol. 135 (2) 573-576 [2015-02-00; online 2014-09-30]
Mutation Analysis Facility (MAF)

Year 2014

NPSR1 polymorphisms influence recurrent abdominal pain in children: a population-based study.
Henström M, Zucchelli M, Söderhäll C, ..., Olén O, D'Amato M
Neurogastroenterol. Motil. 26 (10) 1417-1425 [2014-10-00; online 2014-08-06]
Mutation Analysis Facility (MAF)
Interactive effects of KIBRA and CLSTN2 polymorphisms on episodic memory in old-age unipolar depression.
Pantzar A, Laukka EJ, Atti AR, ..., Fratiglioni L, Bäckman L
pii: S0028-3932(14)00240-1
Neuropsychologia 62 (-) 137-142 [2014-09-00; online 2014-08-01]
Mutation Analysis Facility (MAF)
Genetic variants in CDC42 and NXPH1 as susceptibility factors for constipation and diarrhoea predominant irritable bowel syndrome.
Wouters MM, Lambrechts D, Knapp M, ..., D'Amato M, Boeckxstaens G
pii: gutjnl-2013-304570
Gut 63 (7) 1103-1111 [2014-07-00; online 2013-09-18]
Mutation Analysis Facility (MAF)
Responsibility and cooperativeness are constrained, not determined.
Garcia D, Stråge A, Lundström S, ..., Kerekes N, Anckarsäter H
Front Psychol 5 (-) 308 [2014-05-07; online 2014-05-07]
Mutation Analysis Facility (MAF)
Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.
Peyrard-Janvid M, Leslie EJ, Kousa YA, ..., Kere J, Schutte BC
pii: S0002-9297(13)00524-7 pmc: PMC3882735
Am. J. Hum. Genet. 94 (1) 23-32 [2014-01-02; online 2013-12-24]
Mutation Analysis Facility (MAF)
A population-based assessment of germline HOXB13 G84E mutation and prostate cancer risk.
Karlsson R, Aly M, Clements M, ..., Grönberg H, Wiklund F
pii: S0302-2838(12)00832-9
Eur. Urol. 65 (1) 169-176 [2014-01-00; online 2012-07-31]
Mutation Analysis Facility (MAF)
SNPs within the GH-signaling pathway are associated with the early IGF1 response to GH replacement therapy in GHD adults.
Glad CA, Barbosa EJ, Filipsson Nyström H, ..., Svensson PA, Johannsson G
pii: EJE-13-0685
Eur. J. Endocrinol. 170 (1) 101-107 [2014-01-00; online 2013-10-12]
Mutation Analysis Facility (MAF)

Year 2013

The association between plasma homocysteine and coronary heart disease is modified by the MTHFR 677C>T polymorphism.
Mehlig K, Leander K, de Faire U, ..., Lissner L, Thelle D
pii: heartjnl-2013-304460
Heart 99 (23) 1761-1765 [2013-12-00; online 2013-09-10]
Mutation Analysis Facility (MAF)
Rule-based models of the interplay between genetic and environmental factors in childhood allergy.
Bornelöv S, Sääf A, Melén E, ..., Pershagen G, Komorowski J
pii: PONE-D-13-20229 pmc: PMC3833974
PLoS ONE 8 (11) e80080 [2013-11-19; online 2013-11-19]
Mutation Analysis Facility (MAF)
Genetic effects on old-age cognitive functioning: a population-based study.
Laukka EJ, Lövdén M, Herlitz A, ..., Fratiglioni L, Bäckman L
pii: 2012-34905-001
Psychol Aging 28 (1) 262-274 [2013-03-00; online 2013-01-02]
Mutation Analysis Facility (MAF)

Year 2012

Aversive and reinforcing opioid effects: a pharmacogenomic twin study.
Angst MS, Lazzeroni LC, Phillips NG, ..., Swan GE, Clark JD
pii: 00000542-201207000-00012 pmc: PMC3428265 mid: NIHMS386120
Anesthesiology 117 (1) 22-37 [2012-07-00; online 2012-06-21]
Mutation Analysis Facility (MAF)
Pain sensitivity and opioid analgesia: a pharmacogenomic twin study.
Angst MS, Phillips NG, Drover DR, ..., Lazzeroni LC, Clark JD
pii: S0304-3959(12)00098-X pmc: PMC3377769 mid: NIHMS365869
Pain 153 (7) 1397-1409 [2012-07-00; online 2012-03-27]
Mutation Analysis Facility (MAF)
Integrative approach to pain genetics identifies pain sensitivity loci across diseases.
Ruau D, Dudley JT, Chen R, ..., Butte AJ, Angst MS
pii: PCOMPBIOL-D-12-00028 pmc: PMC3369906
PLoS Comput. Biol. 8 (6) e1002538 [2012-06-07; online 2012-06-07]
Mutation Analysis Facility (MAF)
Variation in the oxytocin receptor gene is associated with pair-bonding and social behavior.
Walum H, Lichtenstein P, Neiderhiser JM, ..., Larsson H, Westberg L
pii: S0006-3223(11)00860-2 pmc: PMC3266986 mid: NIHMS325804
Biol. Psychiatry 71 (5) 419-426 [2012-03-01; online 2011-10-22]
Mutation Analysis Facility (MAF)

Year 2011

Influence of the COMT genotype on working memory and brain activity changes during development.
Dumontheil I, Roggeman C, Ziermans T, ..., Kere J, Klingberg T
pii: S0006-3223(11)00202-2
Biol. Psychiatry 70 (3) 222-229 [2011-08-01; online 2011-04-26]
Mutation Analysis Facility (MAF)
Concomitant autoimmunity in myasthenia gravis--lack of association with IgA deficiency.
Ramanujam R, Piehl F, Pirskanen R, Gregersen PK, Hammarström L
pii: S0165-5728(11)00138-X pmc: PMC3230785 mid: NIHMS305414
J. Neuroimmunol. 236 (1-2) 118-122 [2011-07-00; online 2011-06-15]
Mutation Analysis Facility (MAF)
Utilizing twins concordance rates to infer the predisposition to myasthenia gravis.
Ramanujam R, Pirskanen R, Ramanujam S, Hammarström L
pii: 10.1375/twin.14.2.129
Twin Res Hum Genet 14 (2) 129-136 [2011-04-00; online 2011-03-24]
Mutation Analysis Facility (MAF)
Vitamin D receptor genotypes, ultraviolet radiation exposure, and risk of non-Hodgkin lymphoma.
Smedby KE, Eloranta S, Duvefelt K, ..., Hjalgrim H, Chang ET
pii: kwq340
Am. J. Epidemiol. 173 (1) 48-54 [2011-01-01; online 2010-11-16]
Mutation Analysis Facility (MAF)

Year 2010

Linkage to 20p13 including the ANGPT4 gene in families with mixed Alzheimer's disease and vascular dementia.
Sillén A, Brohede J, Lilius L, ..., Winblad B, Graff C
pii: jhg201079
J. Hum. Genet. 55 (10) 649-655 [2010-10-00; online 2010-07-03]
Mutation Analysis Facility (MAF)
Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
Ferreira RC, Pan-Hammarström Q, Graham RR, ..., Behrens TW, Hammarström L
pii: ng.644
Nat. Genet. 42 (9) 777-780 [2010-09-00; online 2010-08-10]
Mutation Analysis Facility (MAF)
Genetic and biochemical studies of SNPs of the mitochondrial A beta-degrading protease, hPreP.
Pinho CM, Björk BF, Alikhani N, ..., Glaser E, Graff C
pii: S0304-3940(09)01566-3
Neurosci. Lett. 469 (2) 204-208 [2010-01-22; online 2009-12-08]
Mutation Analysis Facility (MAF)