Showing 10/1,228 articles
Silent variant affecting LDL particle number and lipid metabolism; A allele carriers have higher ApoB, LDL-C, and total cholesterol levels
Regulatory variant 1 kb downstream of the SHBG gene that reduces sex hormone-binding globulin levels; the T allele lowers SHBG by ~10–20%, increasing free testosterone and free estradiol bioavailability and elevating risk for PCOS and androgen-driven metabolic dysfunction.
Tag SNP identifying HLA-DQ8 haplotype, second strongest genetic risk factor for celiac disease and major type 1 diabetes risk marker
Regulatory variant upstream of ferroportin (the sole cellular iron exporter) linked to restless legs syndrome
Intronic IL1RL1 variant in the 10th intron of the ST2 receptor gene; C allele is protective against late-onset wheeze and eosinophilic airway inflammation, reducing risk by approximately 26% per C allele copy in European birth cohorts
Synonymous variant in the tyrosine kinase domain of the insulin receptor; the A risk allele (plus-strand) is associated with PCOS susceptibility and insulin resistance in lean women, possibly through altered mRNA processing near the ATP-binding site of the receptor kinase domain
Intestinal fat absorption - affects how efficiently you absorb dietary fat
Slow acetylator variant affecting Phase II detoxification capacity
Decreased-function variant causing reduced thiopurine methylation; pairs with TPMT*3C on the same chromosome to form the TPMT*3A haplotype, the most common cause of TPMT deficiency in Europeans
Intronic HNF4A P2 promoter haplotype tag variant; carriers have modestly impaired glucose-stimulated insulin secretion and elevated type 2 diabetes susceptibility