The FTO, PNPLA3 and TM6SF2 Gene Polymorphisms and Genetic Predisposition to NAFLD in Yakut Population

被引：0
|
作者：
Diakonova, Aleksandra T. [1 ]
Kurtanov, Khariton A. [1 ]
Pavlova, Nadezhda I. [1 ]
Aleksandrova, Tuyara N. [1 ]
机构：
[1] Yakut Sci Ctr Complex Med Problems, Yakutsk, Russia
来源：
INTERNATIONAL JOURNAL OF BIOMEDICINE | 2021年 / 11卷 / 01期
关键词：
nonalcoholic fatty liver disease; single nucleotide polymorphism; genome-wide association study; Yakuts;
D O I：
10.21103/Article11(1)_OA16
中图分类号：
R-3 [医学研究方法]; R3 [基础医学];
学科分类号：
1001 ;
摘要：
The aim of our research was to study the distribution of alleles and genotypes of the FTO rs9939609 SNP, the PNPLA3 rs738409 SNP, and the TM6SF2 rs58542926 SNP in the Yakut population. Methods and Results: A total of 85 DNA samples from the population were tested. An analysis of the frequency distribution of alleles and genotypes of the FTO rs9939609 SNP in the study group did not reveal significant differences. An analysis of the frequency distribution of alleles and genotypes of the PNPLA3 rs738409 SNP revealed that in men and women the G allele and the homozygous GG genotype prevailed. The results of the analysis of the frequency distribution of alleles and genotypes of the TM6SF2 rs58542926 SNP showed the predominance of individuals with the C allele (89% in men and 90% in women) with statistical significance in women. Conclusion: The further studies with a larger sample size are required to detect the features of the distribution of alleles and genotypes of the FTO rs9939609 SNP and the TM6SF2 rs58542926 SNP in that population.
引用
收藏
页码：92 / 95
页数：4
相关论文
共 50 条
  • [41] TM6SF2/PNPLA3/MBOAT7 loss-of-function genetic variants impact on NAFLD development and progression both in patients and in in vitro models
    Longo, Miriam
    Meroni, Marica
    Erconi, Veronica
    Carli, Fabrizia
    Macchi, Chiara
    Fortunato, Francesco
    Ronchi, Dario
    Sabatini, Silvia
    Paolini, Erika
    De Caro, Emilia Rita
    Alisi, Anna
    Miele, Luca
    Soardo, Giorgio
    Comi, Giacomo
    Valenti, Luca
    Ruscica, Massimiliano
    Fracanzani, Anna Ludovica
    Gastaldelli, Amalia
    Dongiovanni, Paola
    JOURNAL OF HEPATOLOGY, 2021, 75 : S600 - S601
  • [42] TM6SF2/PNPLA3/MBOAT7 Loss-of-Function Genetic Variants Impact on NAFLD Development and Progression Both in Patients and in In Vitro Models
    Longo, Miriam
    Meroni, Marica
    Paolini, Erika
    Erconi, Veronica
    Carli, Fabrizia
    Fortunato, Francesco
    Ronchi, Dario
    Piciotti, Roberto
    Sabatini, Silvia
    Macchi, Chiara
    Alisi, Anna
    Miele, Luca
    Soardo, Giorgio
    Comi, Giacomo Pietro
    Valenti, Luca
    Ruscica, Massimiliano
    Fracanzani, Anna L.
    Gastaldelli, Amalia
    Dongiovanni, Paola
    CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY, 2022, 13 (03): : 759 - 788
  • [43] TM6SF2/PNPLA3/MBOAT7 loss-of function genetic variants impact on NAFLD development and progression both in patients and in in vitro models
    Longo, Miriam
    Meroni, Marica
    Erconi, Veronica
    Alisi, Anna
    Miele, Luca
    Rametta, Raffaela
    Fracanzani, Anna Ludovica
    Valenti, Luca
    Dongiovanni, Paola
    JOURNAL OF HEPATOLOGY, 2020, 73 : S669 - S670
  • [44] PNPLA3 and TM6SF2 genetic variants and hepatic fibrosis and cirrhosis in Pakistani chronic hepatitis C patients: a genetic association study
    Bisma Rauff
    Badr Alzahrani
    Shafiq A. Chudhary
    Bilal Nasir
    Saqib Mahmood
    Munir Ahmad Bhinder
    Muhammad Faheem
    Ali Amar
    BMC Gastroenterology, 22
  • [45] PNPLA3 and TM6SF2 genetic variants and hepatic fibrosis and cirrhosis in Pakistani chronic hepatitis C patients: a genetic association study
    Rauff, Bisma
    Alzahrani, Badr
    Chudhary, Shafiq A.
    Nasir, Bilal
    Mahmood, Saqib
    Bhinder, Munir Ahmad
    Faheem, Muhammad
    Amar, Ali
    BMC GASTROENTEROLOGY, 2022, 22 (01)
  • [46] POLYMORPHISMS RS738409 AND RS2294918 OF THE PNPLA3 GENE IN THE YAKUT POPULATION
    Pavlova, N., I
    Bochurov, A. A.
    Alekseev, V. A.
    Kurtanov, Kh A.
    YAKUT MEDICAL JOURNAL, 2022, (02): : 8 - 12
  • [47] PNPLA3 and TM6SF2 are neither associated with decreased cardiovascular nor increased liver-related mortality in the general population
    Balcar, Lorenz
    Semmler, Georg
    Wernly, Sarah
    Bachmayer, Sebastian
    Egger, Matthias
    Semmler, Marie
    Aigner, Elmar
    Niederseer, David
    Datz, Christian
    JOURNAL OF HEPATOLOGY, 2021, 75 : S573 - S573
  • [48] Relevance of PNPLA3, TM6SF2, HSD17B13, and GCKR Variants to MASLD Severity in an Egyptian Population
    Elmansoury, Nehal
    Megahed, Ahmed A.
    Kamal, Ahmed
    El-Nikhely, Nefertiti
    Labane, Marina
    Abdelmageed, Manal
    Daly, Ann K.
    Wahid, Ahmed
    GENES, 2024, 15 (04)
  • [49] Independent and additive effects of PNPLA3 and TM6SF2 polymorphisms on the development of non-B, non-C hepatocellular carcinoma
    Raksayot, Maneerat
    Chuaypen, Natthaya
    Khlaiphuengsin, Apichaya
    Pinjaroen, Nutcha
    Treeprasertsuk, Sombat
    Poovorawan, Yong
    Tanaka, Yasuhito
    Tangkijvanich, Pisit
    JOURNAL OF GASTROENTEROLOGY, 2019, 54 (05) : 427 - 436
  • [50] NOTCH3 rs1043996 Polymorphism Is Associated with the Occurrence of Alcoholic Liver Cirrhosis Independently of PNPLA3 and TM6SF2 Polymorphisms
    Bainrauch, Ana
    Sisl, Dino
    Markotic, Antonio
    Ostojic, Ana
    Gasparov, Slavko
    Lang, Valerija Bralic
    Kovacic, Natasa
    Grcevic, Danka
    Mrzljak, Anna
    Kelava, Tomislav
    JOURNAL OF CLINICAL MEDICINE, 2021, 10 (19)
12345