rs1044498 is a SNP in the ENPP1 gene. It is shown to be associated with insulin resistance and type 2 diabetes (T2D) in various ethnic populations. It is also significantly associated with T2D/obesity-related metabolic traits, such as waist circumference (P = 0.002) and fasting glucose (P < 0.001) [R].

 The ''AC+CC'' genotype was a risk factor for the development of nephropathy in diabetic patients. Further, the ''AC+CC'' genotype was a genetic risk factor in obese (defined by waist circumference) diabetic patients, but not in nonobese diabetic patients [R].

The ''C'' allele increase the risk of type 2 diabetes in the Chinese Han population (OR=1.41;P = 0.003) [R]. 

Compared to the carrier of the ''AA'' genotype the likelihood of type 2 diabetes (T2D) was 2.442 for the carrier of combined ''AC+CC'' genotypes after adjustment of sex and body mass index [R].

Carriers of the ''C'' allele had a decreased risk of colorectal cancers (CRC) (OR 0.79; p≤0.05). And the strongest association was detected in the male subpopulation (OR 0.61; p=0.0015) [R].



Parent Gene: ENPP1

Importance: 2
Less common allele: C = 34%
More common allele: A = 66%
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