[Detection of novel genetic markers of susceptibility to preeclampsia based on an analysis of the regulatory genes in the placental tissue].
Regulatory single nucleotide polymorphisms (rSNPs) are the least-studied group of SNP; however, they play an essential role in the development of human pathology by altering the level of candidate genes expression. In this work, we analyzed 29 rSNPs in 17 new candidate genes associated with preeclampsia (PE) according to the analysis of the transcriptome in placental tissue. Three ethnic groups have been studied (yakut, russian, and buryat). We have detected significant associations of PE with eight rSNPs in six differentially expressed genes, i.e., rs10423795 in the LHB gene; rs3771787 in the HK2 gene; rs72959687 in the INHA gene; rs12678229, rs2227262, and rs3802252 in the NDRG1 gene; rs34845949 in the SASH1 gene; and rs66707428 in the PPP1R12C gene. We used a new approach to detecting genetic markers of multifactorial diseases in the case of PE based on a combination of genomic, transcriptomic, and bioinformatic approaches. This approach proved its efficiency and may be applied to detecting new potential genetic markers in genes involved in disease pathogenesis, which reduces missing heritability in multifactorial diseases.
Research Institute of Medical Genetics, Tomsk, 634050 Russia.|vika.serebrova@medgenetics.ru.
V N
VN
Serebrova
Research Institute of Medical Genetics, Tomsk, 634050 Russia.|National Research Tomsk State University, Tomsk, 634050 Russia.
E A
EA
Trifonova
The Institute for Obstetrics and Gynecology, Tomsk, 634063 Russia.
T V
TV
Gabidulina
The Institute for Obstetrics and Gynecology, Tomsk, 634063 Russia.
I Yu
IY
Bukharina
The Institute for Obstetrics and Gynecology, Tomsk, 634063 Russia.
T A
TA
Agarkova
Regional Perinatal Center, Tomsk, 634063Russia.
I D
ID
Evtushenko
Laboratory of Genome Medicine, Clinics of Medical Institute, North East Federal University, Yakutsk, 677019 Russia.
N R
NR
Maksimova
Research Institute of Medical Genetics, Tomsk, 634050 Russia.|National Research Tomsk State University, Tomsk, 634050 Russia.
V A
VA
Stepanov
D000328:Adult; D005260:Female; D005786:Gene Expression Regulation; D005819:Genetic Markers; D006801:Humans; D010920:Placenta / Q000378:metabolism*; D020641:Polymorphism, Single Nucleotide; D011225:Pre-Eclampsia / Q000235:genetics / Q000378:metabolism; D011247:Pregnancy; D011257:Pregnancy Proteins / Q000096:biosynthesis / Q000235:genetics
D005819:Genetic Markers; D011257:Pregnancy Proteins
Russian population; association study; genetic markers; placenta; preeclampsia; regulatory single-nucleotide polymorphisms (rSNPs); transcriptome