Development of multiplex single base primer extension assay for the detection of potential association between MTNR1B gene polymorphisms and NASH

2018 ◽  
Vol 280 ◽  
pp. S76
Author(s):  
Demet Yilmaz ◽  
Fatih Eren ◽  
Tuba Göcmen ◽  
Yusuf Yilmaz
1997 ◽  
Vol 244 (2) ◽  
pp. 367-373 ◽  
Author(s):  
Pål Nyrén ◽  
Samer Karamohamed ◽  
Mostafa Ronaghi

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Ayako Nishizawa ◽  
Kazuki Kumada ◽  
Keiko Tateno ◽  
Maiko Wagata ◽  
Sakae Saito ◽  
...  

AbstractPreeclampsia is a pregnancy-induced disorder that is characterized by hypertension and is a leading cause of perinatal and maternal–fetal morbidity and mortality. HLA-G is thought to play important roles in maternal–fetal immune tolerance, and the associations between HLA-G gene polymorphisms and the onset of pregnancy-related diseases have been explored extensively. Because contiguous genomic sequencing is difficult, the association between the HLA-G genotype and preeclampsia onset is controversial. In this study, genomic sequences of the HLA-G region (5.2 kb) from 31 pairs of mother–offspring genomic DNA samples (18 pairs from normal pregnancies/births and 13 from preeclampsia births) were obtained by single-molecule real-time sequencing using the PacBio RS II platform. The HLA-G alleles identified in our cohort matched seven known HLA-G alleles, but we also identified two new HLA-G alleles at the fourth-field resolution and compared them with nucleotide sequences from a public database that consisted of coding sequences that cover the 3.1-kb HLA-G gene span. Intriguingly, a potential association between preeclampsia onset and the poly T stretch within the downstream region of the HLA-G*01:01:01:01 allele was found. Our study suggests that long-read sequencing of HLA-G will provide clues for characterizing HLA-G variants that are involved in the pathophysiology of preeclampsia.


2007 ◽  
Vol 129 (3) ◽  
pp. 575-580 ◽  
Author(s):  
Maria Teresa Bottero ◽  
Alessandra Dalmasso ◽  
Marco Cappelletti ◽  
Camillo Secchi ◽  
Tiziana Civera

2020 ◽  
Author(s):  
Zhili Zou ◽  
Yulan Huang ◽  
Jinyu Wang ◽  
Wenjiao Min ◽  
Bo Zhou

Abstract Background: A number of studies have shown that genetic factor plays an importantrole in etiology of panic disorder (PD). The aim of the present study was to examine the association of serotonin-related gene polymorphisms with PD risk. Then, we analyzed the correlation between these gene polymorphisms and response to sertraline drug.Methods: 233 patients with PD and 231 healthy controls were enrolled in the study. Panic Disorder Severity Scale (PDSS) were administered to all subjects, and all patients in the study were also assessed after 4 weeks of treatment. The SLC6A4(rs140701, rs3813034, 5-HTTLPR and STin2), 5-HTR1A rs6295, 5-HTR2A rs6313 and COMT rs4680 gene polymorphisms were genotyped and assessed for the potential association.Results: The allelic model showed that the SLC6A4 rs140701 polymorphism variant was significantly associated with increased risk of PD (OR = 0.624, 95 % CI 0.450-0.864, p<0.05), and a significant result was found in the dominant model (OR = 0.546; 95% CI, 0.371-0.804, p<0.05). There was a significant difference in allele and genotype frequency between responders and nonresponders in the 5-HTTLPR polymorphism (OR = 0.205, 95 % CI 0.128-0.328; OR = 0.249, 95 % CI 0.155-0.401, both p <0.001), indicating the PD patients with S-allele had a poorer response to sertraline than L-allele carriers.Conclusions: The present study suggests that the SLC6A4 rs140701 polymorphism variant may be associated with susceptibility to PD, and 5-HTTLPR polymorphism may be a predictor of response to sertraline in the treatment of PD.


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