| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common/normal (in most populations)
|
| (C;T)
|
2
|
Less response to allopurinol in Caucasians with gout
|
| (T;T)
|
2
|
Less response to allopurinol in Caucasians with gout
|
rs10011796 represents a variant in the ABCG2 gene on chromosome 4. In most (but not all) populations, the minor allele is (T). It is genetically independent of rs2231142, a different ABCG2 gene variant that has been linked to gout in several populations.
A 2015 GWAS study of allopurinol response reported that in non-Hispanic whites, rs10011796(T) showed the strongest statistical association. When other ethnicities were included in a meta-analysis, the association remained significant but weakened somewhat (from p = 2x10e−8 to 7x10e−4).[PMID 25676789
]
In 2017, rs10011796 was reported to be associated with tophi development in gout patients of Western Polynesian (but not Eastern Polynesian) origin. The authors suggest that the ancestry-specific effects of ABCG2 variants may be due to haplotype backgrounds.[PMID 28270222]
]
