Profile of GAS6 gene single nucleotide polymorphisms [GAS6 c.834+7G>A (rs8191974), and GAS6 c.1332C>T (rs1803628)] among a cohort of Egyptian women with preeclampsia: Relation to disease risk and severity

Abstract

This study represents the investigation of the potential link between single nucleotide polymorphisms (SNPs) in the growth arrest-specific 6 (GAS6) gene and preeclampsia (PE) in Egyptian women. Few existing research have explored this association in other populations, prompting this investigation into the relationship between variants of GAS6 SNPs and both the probability and severity of PE. 200 pregnant Egyptian women participated in the study; 100 were normotensive, 50 had mild PE, and 50 had severe PE. RFLP-PCR was used to genotype GAS6 SNPs [NM_000820.4:c.834+7G>A (rs8191974) and NM_000820.4:c.1332C>T (rs1803628)] in patients and controls (mean ages 30.33 ± 7.17 and 27.43 ± 5.14 years, respectively). Key findings included a significantly higher frequency of AA genotype (29 % vs. 7 %; P < 0.001) and A allele (56 % vs. 30 %; P < 0.001, OR = 0.337, 95 % CI = 0.223–0.508) of NM_000820.4:c.834+7G>A in PE patients compared to controls. In contrast, the CC genotype (27 % vs. 4 %; P < 0.001) and wild C allele (59.5 % vs. 49.5 %; P = 0.045, OR = 1.499, 95 % CI = 1.009–2.226) of NM_000820.4:c.1332C>T were also significantly more frequent in PE patients. Within PE cases, severe cases showed a higher frequency of the CC genotype of NM_000820.3:c.1332C > T (38 % vs. 16 % in mild cases; P = 0.009) and C allele (68 % vs. 51 %; P = 0.014, OR = 2.042, 95 % CI = 1.149–3.627). These results indicate an association between PE risk and the A allele and AA genotype of NM_000820.4:c.834+7G>A variants. Within this cohort of Egyptian women, PE development and severity were significantly linked to the presence of the CC genotype and C allele of the NM_000820.4:c.1332C>T variants.