New susceptibility locus for high myopia is linked to the uromodulin-like 1 (UMODL1) gene region on chromosome 21q22.3.
OBJECTIVE
To ascertain and define the position of a potential disease susceptibility gene around D21S0083i prioritized during our previous whole genome case-control association analysis with 27,158 microsatellite markers, in Japanese high-myopia patients.


METHODS
520 high myopic patients and 520 healthy controls were genotyped using 39 SNPs distributed around D21S0083i on chromosome 21q22.3.


RESULTS
Only 1 SNP (rs2839471) of 39 SNPs was significant after correction for multiple testing (allele T: P=0.00027, Pc=0.01, OR=1.684). The SNP (rs2839471) did not reside in haplotype blocks constructed by the pair-wise linkage disequilibrium between the SNPs.


CONCLUSIONS
The SNP (rs2839471) is suggested to be located in the frequent recombinant region within UMODL1. Together this region might play a critical role for susceptibility to high myopia, and warrants further confirming studies and investigations as to the mechanisms by which UMODL1 may contribute to myopia.
Department of Ophthalmology, Yokohama City University School of Medicine, Kanagawa, Japan.
R
R
Nishizaki
M
M
Ota
H
H
Inoko
A
A
Meguro
T
T
Shiota
E
E
Okada
J
J
Mok
A
A
Oka
S
S
Ohno
N
N
Mizuki
D000293:Adolescent; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D009088:Mucoproteins / Q000235:genetics*; D009216:Myopia / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D058949:Uromodulin; D055815:Young Adult
D009088:Mucoproteins; C548612:UMOD protein, human; D058949:Uromodulin