Homozygote

Publication Title: 
Mechanisms of Ageing and Development

Subjects with exceptional longevity have a lower incidence and/or significant delay in the onset of age-related disease, and their family members may inherit biological factors that modulate aging processes and disease susceptibility. In a case control study, we aim to determine phenotype and genotype of exceptional longevity in a genetically homogenous population (Ashkenazi Jews), and their offspring, while an age-matched control group of Ashkenazi Jews was used as control groups.

Author(s): 
Atzmon, Gil
Rincon, Marielisa
Rabizadeh, Pegah
Barzilai, Nir
Publication Title: 
PloS One

Several studies have shown that genetic factors account for 25% of the variation in human life span. On the basis of published molecular, genetic and epidemiological data, we hypothesized that genetic polymorphisms of taste receptors, which modulate food preferences but are also expressed in a number of organs and regulate food absorption processing and metabolism, could modulate the aging process.

Author(s): 
Campa, Daniele
de Rango, Francesco
Carrai, Maura
Crocco, Paolina
Montesanto, Alberto
Canzian, Federico
Rose, Giuseppina
Rizzato, Cosmeri
Passarino, Giuseppe
Barale, Roberto
Publication Title: 
Prion

The PRNP gene encodes the cellular isoform of prion protein (PrP (c) ). The M129V polymorphism influences the risk of prion diseases and may modulate the rate of neurodegeneration with age. We present the first study of the polymorphism among Polish centenarians. In the control group (n = 165, ages 18 to 56 years) the observed M129V genotype frequencies agreed with those expected according to the Hardy-Weinberg equilibrium (MM, MV, VV): 43%, 44%, 13% (HWE p > 0.05).

Author(s): 
Golanska, Ewa
Sieruta, Monika
Corder, Elizabeth
Gresner, Sylwia M.
Pfeffer, Anna
Chodakowska-Zebrowska, Malgorzata
Sobow, Tomasz M.
Klich, Izabela
Mossakowska, Malgorzata
Szybinska, Aleksandra
Barcikowska, Maria
Liberski, Pawel P.
Publication Title: 
Annals of Internal Medicine

The complications of iron overload in hemochromatosis can be avoided by early diagnosis and appropriate management. Therapeutic phlebotomy is used to remove excess iron and maintain low normal body iron stores, and it should be initiated in men with serum ferritin levels of 300 microg/L or more and in women with serum ferritin levels of 200 microg/L or more, regardless of the presence or absence of symptoms.

Author(s): 
Barton, J. C.
McDonnell, S. M.
Adams, P. C.
Brissot, P.
Powell, L. W.
Edwards, C. Q.
Cook, J. D.
Kowdley, K. V.
Publication Title: 
Psychiatry Research

Fluctuating asymmetry of bilateral morphological traits is the result of prenatal developmental instability and has been shown to be greater in organisms having more homozygous genotypes (aabb vs. AaBb, for example). This expected increase in fluctuating asymmetry has been found among individuals having a high degree of liability for schizophrenia, as this disorder appears to have a polygenic basis.

Author(s): 
Markow, T. A.
Gottesman, I. I.
Publication Title: 
PloS One

In Plasmodium falciparum-infected red blood cells (RBCs), the flavoenzyme glutathione reductase (GR) regenerates reduced glutathione, which is essential for antioxidant defense. GR utilizes NADPH produced in the pentose phosphate shunt by glucose-6-phosphate dehydrogenase (G6PD). Thus, conditions affecting host G6PD or GR induce increased sensitivity to oxidants. Hereditary G6PD deficiency is frequent in malaria endemic areas and provides protection against severe malaria.

Author(s): 
Gallo, Valentina
Schwarzer, Evelin
Rahlfs, Stefan
Schirmer, R. Heiner
van Zwieten, Rob
Roos, Dirk
Arese, Paolo
Becker, Katja
Publication Title: 
Nature Genetics

We describe an analysis of genome variation in 825 P. falciparum samples from Asia and Africa that identifies an unusual pattern of parasite population structure at the epicenter of artemisinin resistance in western Cambodia. Within this relatively small geographic area, we have discovered several distinct but apparently sympatric parasite subpopulations with extremely high levels of genetic differentiation.

Author(s): 
Miotto, Olivo
Almagro-Garcia, Jacob
Manske, Magnus
MacInnis, Bronwyn
Campino, Susana
Rockett, Kirk A.
Amaratunga, Chanaki
Lim, Pharath
Suon, Seila
Sreng, Sokunthea
Anderson, Jennifer M.
Duong, Socheat
Nguon, Chea
Chuor, Char Meng
Saunders, David
Se, Youry
Lon, Chantap
Fukuda, Mark M.
Amenga-Etego, Lucas
Hodgson, Abraham V. O.
Asoala, Victor
Imwong, Mallika
Takala-Harrison, Shannon
Nosten, François
Su, Xin-Zhuan
Ringwald, Pascal
Ariey, Frédéric
Dolecek, Christiane
Hien, Tran Tinh
Boni, Maciej F.
Thai, Cao Quang
Amambua-Ngwa, Alfred
Conway, David J.
Djimde, Abdoulaye A.
Doumbo, Ogobara K.
Zongo, Issaka
Ouédraogo, Jean-Bosco
Alcock, Daniel
Drury, Eleanor
Auburn, Sarah
Koch, Oliver
Sanders, Mandy
Hubbart, Christina
Maslen, Gareth
Ruano-Rubio, Valentin
Jyothi, Dushyanth
Miles, Alistair
O'Brien, John
Gamble, Chris
Oyola, Samuel O.
Rayner, Julian C.
Newbold, Chris I.
Berriman, Matthew
Spencer, Chris C. A.
McVean, Gilean
Day, Nicholas P.
White, Nicholas J.
Bethell, Delia
Dondorp, Arjen M.
Plowe, Christopher V.
Fairhurst, Rick M.
Kwiatkowski, Dominic P.
Publication Title: 
Mayo Clinic Proceedings

OBJECTIVE: To identify single nucleotide polymorphisms (SNPs) associated with risk of developing chronic kidney disease (CKD), a prevalent comorbidity, after liver transplant (LT). PATIENTS AND METHODS: This study consists of a cohort of adult (> or =18 years) primary-LT recipients who had normal renal function before LT and who survived 1 year or more after LT at a high-volume US LT program between January 1, 1990, and December 31, 2000.

Author(s): 
Bambha, Kiran
Kim, W. Ray
Rosen, Charles B.
Pedersen, Rachel A.
Rys, Cynthia
Kolbert, Christopher P.
Cunningham, Julie M.
Therneau, Terry M.
Publication Title: 
Endocrinology

Although the effectiveness of nuclear hormone-receptor complexes is known to depend on coregulator partner proteins, relatively little is known about the roles of coregulators in uterine development and early stages of pregnancy and implantation.

Author(s): 
Park, Sunghee
Yoon, Sangyeon
Zhao, Yuechao
Park, Seong-Eun
Liao, Lan
Xu, Jianming
Lydon, John P.
DeMayo, Francesco J.
O'Malley, Bert W.
Bagchi, Milan K.
Katzenellenbogen, Benita S.
Publication Title: 
Proceedings of the National Academy of Sciences of the United States of America

Transporters at the hepatic canalicular membrane are essential for the formation of bile and the prevention of cholestatic liver disease. One such example is ATP8B1, a P4-type ATPase disrupted in three inherited forms of intrahepatic cholestasis. Mutation of the X-linked mouse gene Atp11c, which encodes a paralogous P4-type ATPase, precludes B-cell development in the adult bone marrow, but also causes hyperbilirubinemia. Here we explore this hyperbilirubinemia in two independent Atp11c mutant mouse lines, and find that it originates from an effect on nonhematopoietic cells.

Author(s): 
Siggs, Owen M.
Schnabl, Bernd
Webb, Bill
Beutler, Bruce

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