Impact of variants on type-2 diabetes risk genes identified through genomewide association studies in polycystic ovary syndrome: a case-control study.
PMID 30555071 · Journal of genetics · 2018 · View on PubMed ↗
Polycystic ovary syndrome (PCOS) is a common endocrine disorder in females, and is associated with altered metabolic processes in particular insulin resistance and diabetes mellitus. PCOS shares with type-2 diabetes (T2D) a number of features, including beta cell dysfunction, impaired glucose tolerance and dyslipidaemia. Recently, genomewide association studies (GWAS) have reported a number of genes with reproducible associations and susceptibilities to T2D. To address this, we examined the association between the T2D GWAS candidate genes (CDKAL1, CDKN2B, COL8A1, HHEX, IGF2BP2, KCNJ1, KCNQ1 and SLC30A8) and PCOS in Saudi women. A case-control study, includes 162 cases and 162 controls was enrolled. Genotyping was carried out by the allelicdiscrimination method. Our results showed that the variants including rs792837 of COL8A1, rs61873498 of KCNQ1 and rs13266634 of SLC30A8 genes to be significantly more frequent in PCOS patients than in controls. Our results suggest that COL8A1, KCNQ1 and SLC30A8, which are previously identified through GWAS as T2D-associated genes, are associated with PCOS.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CDKAL1 | “To address this, we examined the association between the T2D GWAS candidate genes (CDKAL1, CDKN2B, COL8A1, HHEX, IGF2BP2, KCNJ1, KCNQ1 and SLC30A8) and PCOS in Saudi women.” | 0.98 | hgnc_dict_v1 |
| gene | CDKN2B | “To address this, we examined the association between the T2D GWAS candidate genes (CDKAL1, CDKN2B, COL8A1, HHEX, IGF2BP2, KCNJ1, KCNQ1 and SLC30A8) and PCOS in Saudi women.” | 0.98 | hgnc_dict_v1 |
| gene | COL8A1 | “To address this, we examined the association between the T2D GWAS candidate genes (CDKAL1, CDKN2B, COL8A1, HHEX, IGF2BP2, KCNJ1, KCNQ1 and SLC30A8) and PCOS in Saudi women.” | 0.98 | hgnc_dict_v1 |
| gene | HHEX | “To address this, we examined the association between the T2D GWAS candidate genes (CDKAL1, CDKN2B, COL8A1, HHEX, IGF2BP2, KCNJ1, KCNQ1 and SLC30A8) and PCOS in Saudi women.” | 0.98 | hgnc_dict_v1 |
| gene | IGF2BP2 | “To address this, we examined the association between the T2D GWAS candidate genes (CDKAL1, CDKN2B, COL8A1, HHEX, IGF2BP2, KCNJ1, KCNQ1 and SLC30A8) and PCOS in Saudi women.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ1 | “To address this, we examined the association between the T2D GWAS candidate genes (CDKAL1, CDKN2B, COL8A1, HHEX, IGF2BP2, KCNJ1, KCNQ1 and SLC30A8) and PCOS in Saudi women.” | 0.98 | hgnc_dict_v1 |
| gene | KCNQ1 | “To address this, we examined the association between the T2D GWAS candidate genes (CDKAL1, CDKN2B, COL8A1, HHEX, IGF2BP2, KCNJ1, KCNQ1 and SLC30A8) and PCOS in Saudi women.” | 0.98 | hgnc_dict_v1 |
| gene | SLC30A8 | “To address this, we examined the association between the T2D GWAS candidate genes (CDKAL1, CDKN2B, COL8A1, HHEX, IGF2BP2, KCNJ1, KCNQ1 and SLC30A8) and PCOS in Saudi women.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Impact of variants on type-2 diabetes risk genes identified through genomewide association studies in polycystic ovary syndrome: a case-control study.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | dyslipidemia | “PCOS shares with type-2 diabetes (T2D) a number of features, including beta cell dysfunction, impaired glucose tolerance and dyslipidaemia.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “To address this, we examined the association between the T2D GWAS candidate genes (CDKAL1, CDKN2B, COL8A1, HHEX, IGF2BP2, KCNJ1, KCNQ1 and SLC30A8) and PCOS in Saudi women. A case-control study, includes 162 cases and 162 controls was enrolled.” | 0.95 | saudi_context_rules_v1 |
| variant | rs792837 | “Our results showed that the variants including rs792837 of COL8A1, rs61873498 of KCNQ1 and rs13266634 of SLC30A8 genes to be significantly more frequent in PCOS patients than in controls.” | 0.90 | hgvs_regex_v1 |
| variant | rs61873498 | “Our results showed that the variants including rs792837 of COL8A1, rs61873498 of KCNQ1 and rs13266634 of SLC30A8 genes to be significantly more frequent in PCOS patients than in controls.” | 0.90 | hgvs_regex_v1 |
| variant | rs13266634 | “Our results showed that the variants including rs792837 of COL8A1, rs61873498 of KCNQ1 and rs13266634 of SLC30A8 genes to be significantly more frequent in PCOS patients than in controls.” | 0.90 | hgvs_regex_v1 |