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Title: High prevalence of an anti-hypertriglyceridemic variant of the MLXIPL gene in Central Asia
Authors: Kazuhiro Nakayama
Yoshiko Yanagisawa
Ayumi Ogawa
Yuumi Ishizuka
Lkhagvasuren Munkhtulga
Phitaya Charupoonphol
Somjit Supannnatas
Stevenson Kuartei
Ulziiburen Chimedregzen
Yoshiro Koda
Takafumi Ishida
Yasuo Kagawa
Sadahiko Iwamoto
Jichi Medical University
Health Science University of Mongolia
Mahidol University
Mahasarakham University
Ministry of Health and Welfare
Mongolian Medical Women's Association
Kurume University School of Medicine
University of Tokyo
Kagawa Nutrition University
Keywords: Biochemistry, Genetics and Molecular Biology;Medicine
Issue Date: 21-Dec-2011
Citation: Journal of Human Genetics. Vol.56, No.12 (2011), 828-833
Abstract: MLXIPL is a transcription factor integral to the regulation of glycolysis and lipogenesis in the liver. Common variants of the MLXIPL gene (MLXIPL) are known to influence plasma triglyceride levels in people of European descent. As MLXIPL has a key role in energy storage, genetic variations of the MLXIPL may be relevant to physiological adaptations to nutritional stresses that have occurred during the evolution of modern humans. In the present study, we assessed the phenotypic consequences of the Q241H variant of MLXIPL in populations of Asian and Oceanian origin and also surveyed the prevalence of Q241H variant in populations worldwide. Multiple linear regression models based on 2373 individuals of Asian origin showed that the H allele was significantly associated with decreased concentrations of plasma triglycerides (P=0.0003). Direct genotyping of 1455 individuals from Africa, Asia and Oceania showed that the triglyceride-lowering H allele was found at quite low frequencies (0.00-0.16) in most of the populations examined. The exceptions were some Central Asian populations, including Mongolians, Tibetans and Uyghurs, which exhibited much higher frequencies of the H allele (0.21-0.26). The high prevalence of the H allele in Central Asia implies that the Q241H variant of MLXIPL might have been significant for utilization of carbohydrates and fats in the common ancestors of these populations, who successfully adapted to the environment of Central Asia by relying on nomadic livestock herding. © 2011 The Japan Society of Human Genetics All rights reserved.
ISSN: 1435232X
Appears in Collections:Scopus 2011-2015

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