Naslov
SNP’s in LEP and LEPR are associated with RSA

Autori
Wagner, Jasenka ; Muller, Andrijana ; Škrlec, Ivana ; Heffer, Marija ; Maver, Aleš ; Zibar, Lada ; Peterlin, Borut

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Biopolymers and Cell / - , 2012, 76-76

Skup
Bridges in Life Sciences, 7th Annual Conference, Science and Art for the Advancement in Medicine

Mjesto i datum
Budimpešta, Mađarska, 30.03.2012. - 01.04.2012

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
recurrent spontaneous abortion ; LEP ; LEPR ; SNP

Sažetak
Aim: Single nucleotide polymorphisms (SNP) in leptin (LEP) and leptin receptor (LEPR) genes were compared between a group of female patients with more than three recurrent spontaneous abortion (RSA) and women with two or more successful pregnancies (SP). Methods: In a cohort study 145 women with SP and 178 women with RSA were tested. Genotype of four SNP’s in LEP (rs7799039, rs2122627, rs11761556, rs10244329) and four SNP’s in LEPR (rs1137101, rs7516341, rs1186403, rs12062820) were determined using KASP SNP Genotyping system and ABI Prism 7000 SDS instrument. Statistical comparison was done using Chi−square statistic. The haplotype frequencies and haplotype−disease associations were estimated using haplo.stats package. Results: The genotype frequencies did not deviate from HWE, except in the case of one LEP and two LEPR SNPs. In the case of rs7799039 p value for RSA and all examinees was 0.03. The recessive model (AG + GG/AA) revealed significant association between 2548A genotype and RSA (OR= 1.58). Also, two SNPs from intron region of LEPR (rs7516341 and rs1186403) deviated from normal distribution. In dominant model (CC+TC/TT) of the first SNP allele C decreases risk of RSA (p=0.034, OR=0.61). The second SNP was significantly different for SP group (p=0.0078) where T allele is of limited protective effect in the recessive model of inheritance (Chi-square p=0.082, OR=0.51). Conclusions: It is known that mother’s BMI during pregnancy influence maternal and newborn health. LEP and LEPR are candidate genes for RSA and therefore their influence on mother’s BMI during pregnancy and final outcome of pregnancy deserves further investigation.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA