The SH2D2A gene and susceptibility to multiple sclerosis.
We previously reported an association between the SH2D2A gene encoding TSAd and multiple sclerosis (MS). Here a total of 2128 Nordic MS patients and 2004 controls were genotyped for the SH2D2A promoter GA repeat polymorphism and rs926103 encoding a serine to asparagine substitution at amino acid position 52 in TSAd. The GA(16)-rs926103()A haplotype was associated with MS in Norwegians (OR 1.4, P=0.04). A similar trend was observed among Danes. In the independent Norwegian, Danish and Swedish sample sets the GA(16) allele showed a combined OR of 1.13, P=0.05. Thus, the present study shows that the SH2D2A gene may contribute to susceptibility to MS.
Lorentzen
Aslaug R
AR
Department of Neurology, University of Oslo, Oslo, Norway; Institute of Immunology, Rikshospitalet University Hospital, Oslo, Norway. a.r.lorentzen@medisin.uio.no
Smestad
Cathrine
C
Lie
Benedicte A
BA
Oturai
Annette B
AB
Akesson
Eva
E
Saarela
Janna
J
Myhr
Kjell-Morten
KM
Vartdal
Frode
F
Celius
Elisabeth G
EG
Sørensen
Per S
PS
Hillert
Jan
J
Spurkland
Anne
A
Harbo
Hanne F
HF
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D016001:Confidence Intervals; D018900:Dinucleotide Repeats / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000453:epidemiology / Q000235:genetics*; D016017:Odds Ratio; D011110:Polymorphism, Genetic / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012537:Scandinavian and Nordic Countries / Q000453:epidemiology
D048868:Adaptor Proteins, Signal Transducing; C405691:SH2D2A protein, human