Associations of a non-synonymous variant in SLC2A9 with gouty arthritis and uric acid levels in Han Chinese subjects and Solomon Islanders.
OBJECTIVE
To study the associations of gout, tophi and uric acid levels with the gout-related SLC2A9 (solute carrier family 2, member 9) single nucleotide polymorphisms (SNPs) between two different racial groups.


METHODS
Eight SLC2A9 SNPs were genotyped in 109 subjects with gout and 191 control subjects from Han Chinese men in Taiwan and 69 subjects with gout and 168 control subjects from the Solomon Islands.


RESULTS
Non-synonymous SLC2A9 rs3733591 Arg265His was associated with risk for gout and tophaceous gout in Han Chinese subjects (p=0.0012 and p=0.0044). The genetic effect of this SNP on tophaceous gout was replicated in Solomon Islanders (p=0.0184). Patients with SLC2A9 Arg265His risk C-allele consistently had a higher risk for tophi (OR 2.05-2.15) than non-tophi (OR 0.91-1.62). SNP rs3733591 described 3.68% and 5.98% of the total variability in uric acid levels for Chinese and Solomon Island subjects, respectively.


CONCLUSIONS
Non-synonymous SNP rs3733591 variant within the SLC2A9 gene from two geographically diverse populations served as an important genetic checkpoint for tophaceous gout and increased uric acid levels.
Tu
Hung-Pin
HP
Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
Chen
Chung-Jen
CJ
Tovosia
Silent
S
Ko
Albert Min-Shan
AM
Lee
Chien-Hung
CH
Ou
Tsan-Teng
TT
Lin
Gau-Tyan
GT
Chang
Shun-Jen
SJ
Chiang
Shang-Lun
SL
Chiang
Hung-Che
HC
Chen
Ping-Ho
PH
Wang
Shu-Jung
SJ
Lai
Han-Ming
HM
Ko
Ying-Chin
YC
D000328:Adult; D000368:Aged; D015210:Arthritis, Gouty / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D044383:Black People / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005838:Genotype; D051246:Glucose Transport Proteins, Facilitative / Q000235:genetics*; D006801:Humans; D008297:Male; D008542:Melanesia / Q000453:epidemiology; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D013624:Taiwan / Q000453:epidemiology; D014527:Uric Acid / Q000097:blood*
D051246:Glucose Transport Proteins, Facilitative; C411811:SLC2A9 protein, human; D014527:Uric Acid