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.
Nishizaki
R
R
Department of Ophthalmology, Yokohama City University School of Medicine, Kanagawa, Japan.
Ota
M
M
Inoko
H
H
Meguro
A
A
Shiota
T
T
Okada
E
E
Mok
J
J
Oka
A
A
Ohno
S
S
Mizuki
N
N
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