Table 1.
Association of missense variants in RBPJL with type 2 diabetes in American Indians
| Type 2 diabetes association | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Variant information | Full-Pima (n = 3719) | Non-Full-Pima (n = 3940) | Combined (N = 7659) | ||||||
| Variant ID | Allelesa | Risk allele, freqb | Variantc | OR (95%CI)d | P-valued,e | OR (95%CI)d | P-valued,e | OR (95%CI)d | P-valued,e |
| rs200998587f | C/T | T, 0.03 | c.839C>T (p.(Thr280Met)) | 1.49 (1.02–2.17) | 0.04 | 1.78 (1.22–2.60) | 0.003 | 1.60 (1.21–2.13) | 0.001 |
| chr20:43945378g | G/A | A, 0.015 | c.1333G>A (p.(Asp445Asn)) | 1.08 (0.69–1.69) | 0.73 | 2.74 (1.46–5.13) | 0.002 | 1.43 (0.97–2.12) | 0.07 |
a Alleles shown are reference allele/variant allele
b Risk Allele and frequency of the risk allele in combined samples
c Based on RBPJL refseq: NM_014276.3
d OR and P-values were adjusted for age, sex, birth-year and first five principal components from a Pima Indian specific GWAS. OR are given per copy of the risk allele
e P-value shown are after controlling for inflation by genomic control method
f 7227 subjects (94.3%) were successfully genotyped for the Thr280Met variant. Among these, 439 subjects were carriers of the risk allele. The prevalence of T2D among carriers of the Met allele was 41% (180/439) while among non-carriers was 32.8% (2232/6788)
g Position is based on human genome build 37 (hg19)