Publications by authors named "Arnaiz-Villena A"

Background: Major Human Histocompatibility complex (MHC or HLA in humans) has been associated to autoimmune diseases. However, only statistical phenomenological and no pathogenetic description has been reached after decades. This shows that MHC single locus association studies are probably useless for HLA/diseases association.

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Gastric cancer ranks fifth in both world prevalence and lethality, with a 5-year survival of less than 30%. HLA-G, a non-classical class I HLA gene, has emerged as a potential marker for cancer susceptibility and prognosis due to its immunomodulatory properties. Its level of expression is regulated by polymorphisms in the 3' untranslated region (3'UTR) polymorphisms, which form various combined haplotypes (UTR-1 to -9).

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The Human Leukocyte Antigen (HLA) system contains a set of genes involved at many levels in the innate and adaptive immune response. Among the non-classical HLA class I genes, HLA-G stands out for the numerous studies about its pivotal role in regulating/modulating immune responses. Also, its involvement in extravillous cytotrophoblast function, viral infections, autoimmunity, and cancer has been extensively documented.

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The relationship between microbiota and the immune system is complex and characterized by the ways in which microbiota directs immune function interactions, both innate and acquired and also keeps activating the immune system throughout an individual's life. In this respect, the human Major Histocompatibility Complex (MHC, referred to as HLA in humans) plays a crucial role and is also established in self-defense against microbes by presenting microbial-derived peptides to the immune cells. However, this assumption has some unclear aspects that should be investigated.

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HLA studies in Crete show that this population is related to North Africans and also Iberians. This may be a reflection of a common prehistoric first Europeans relationships with North Africans and drying Saharan emigration after 10,000 years BC; it may be specifically represented by a primitive and early cult to the bull in both Cretan (Minoan) and Iberian populations. In the present study, unrelated Cretans representing different Island parts have been studied for class II HLA-DRB1 and -DQB1 alleles.

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HLA and disease studies by using single allele statistics have been fruitless during the last 40 years for explaining association pathogenesis of the associated diseases.Other approaches are necessary to untangle this puzzle. We aim to revisit complement alleleism in humans and primates for both studying MHC and disease association to complotypes and extended MHC haplotypes in order to also explain the positive directional selection of maintaining immune response genes (complement, MHC adaptive and MHC non-specific genes) that keeps these three type of genes together in a short chromosome stretch (MHC) for million years.

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The contribution of migrated people from once green Sahara (about 10,000-6000 years BC) towards Mediterranean area had probably a double effect: both genetic and cultural connections have been described between Western Europe and North Africa. Sudanese populations from different ethnicities have been studied for HLA-A, -B, -DRB1 and -DQB1 antigens by a standard microlymphotoxicity method. Results found show that Nubians are genetically related with African Sub-Saharan populations and distant from other Sudanese tribes, who are closer to Mediterranean populations than to Sub-Saharan ones.

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Yazd City (1,200,000 inhabitants) is placed in the middle of its Iran desert province and it was constructed on a oasis in ancient times.However,it was a central point on the Silk Road and merchants from both Asia and Mediterranean/European areas crossed through Yazd City.We have studied HLA-A,-B,-DRB1 and DQB1 alleles in Yazd population.

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Nahua population (also named Aztec or Mexica) was studied for HLA class II genes in a Mexican rural city (Santo Domingo Ocotitlan, Morelos State) belonging to the nowadays Náhuatl speaking areas in Mexico. The most frequent HLA class II alleles were typical Amerindian (HLA-DRB1*04:07, DQB1*03:01 DRB1*04:03 or DRB1*04:04) and also were some calculated extended haplotypes (HLA-DRB1*04:07-DQB1*03:02,DRB1*08:02-DQB1*04:02, or DRB1*10:01-DQB1*05:01 among others). When using HLA-DRB1 Neís genetic distances, our isolated Nahua population was found to be close to other Central America Amerindians like the ancient-established Mayans or Mixe.

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HLA-DMB allele frequencies and HLA-DBM-DRB1-DQB1 extended haplotypes were studied for the first time in Amerindians (Cuenca city area, Ecuador). It was found that most common extended haplotypes gathered the most frequent HLA-DRB1 Amerindian alleles. HLA-DMB polymorphism studies may be important to uncover HLA and diseases pathogenesis and also in an extended HLA haplotype frameshift.

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Georgia (or Sakartvelo in its own language) is a South Caucasus Mts. country with its easternmost part is enigmatically named Iberia, like the Iberian Peninsula, which may refer to rivers "Kura" and "Ebro" or their valleys respectively. Most of their inhabitants speak Georgian which is included within Dene-Caucasian group and Usko-Mediterranean subgroup of languages.

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Kurds are living at Middle East region comprising several countries (38 million people) and also have emigrated to Asia, Europe and America. Kurds from Iran have been HLA typed in the present work from Saqqez and Baneh towns, Kordestan province, Iran. Origin of Kurds is considered autochthonous from Anatolia and surrounding mountains :they have been referred as "the mountain people" by classic Persian, Greek and Roman authors.

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Classical HLA (Human Leukocyte Antigen) is the Major Histocompatibility Complex (MHC) in man. HLA genes and disease association has been studied at least since 1967 and no firm pathogenic mechanisms have been established yet. HLA-G immune modulation gene (and also -E and -F) are starting the same arduous way: statistics and allele association are the trending subjects with the same few results obtained by HLA classical genes, i.

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Azeri people are at present day mainly living in an area which comprises North (Azerbaijan) and South (Azeri Iran provinces) parts, living the biggest population in Azeri Iran provinces with about 17-20 million people. They were studied HLA-A, -B, -DRB1 and -DQB1 allele and extended haplotype frequencies in unrelated Iranian Tabriz Azeris from a rural area close to Tabriz City. The HLA extended haplotypes with highest frequencies are: 1) HLA- A*24:02-B*35:01-DRB1*11:01-DQB1*03:01, shared with Mediterraneans and southern Russians (Chuvash, which also show Mediterranean characters); and 2) HLA-A*01:02-B*08:01-DRB1*03:01-DQB1*02:01, found also in Chuvash and other Azeri samples from Tabriz.

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Article Synopsis
  • Spain was invaded in 711 CE by predominantly Berber North Africans, marking the beginning of a long conflict between Christian kingdoms and Muslim rulers that continued until the latter's expulsion around 1492 CE.
  • Many Muslims expelled from Spain had Iberian ancestry and had converted to Islam, while some Christian converts to Islam returned after being expelled by 1609 CE.
  • A study of present-day Alpujarrans indicates a strong presence of HLA haplotypes linked to Northern Spain and the European Atlantic region, suggesting successful repopulation and continuity of the Iberian population.
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HLA-G is a non-classical HLA class I molecule with immunomodulatory properties. It was initially described at the maternal-fetal interface, and it was later found that this molecule was constitutively expressed on certain immuneprivileged tissues, such as cornea, endothelial and erythroid precursors, and thymus. The immunosuppressive effect of HLA-G is exerted through the interaction with its cognate receptors, expressed on immunocompetent cells, like ILT2, expressed on NK, B, T cells and APCs; ILT4, on APCs; KIR, found on the surface of NK cells; and finally, the co-receptor CD8.

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HLA-G is a non-classical class I HLA molecule that induces tolerance by acting on receptors of both innate and adaptive immune cells. When overexpressed in tumors, limits surveillance by the immune system. The gene shows several polymorphisms involved in mRNA and protein levels.

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Fcγ receptors (FcγR), cell-surface glycoproteins that bind antigen-IgG complexes, control both humoral and cellular immune responses. The locus on chromosome 1q23.3 comprises five homologous genes encoding low-affinity FcγRII and FcγRIII, and displays functionally relevant polymorphism that impacts on human health.

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Article Synopsis
  • A study of HLA-G allele frequencies in Maya Amerindians in Yucatán found that the most common alleles were HLA-G*01:01:02, HLA-G*01:01:01, and HLA-G*01:04:01, while the HLA-G*01:05N allele was absent, reflecting trends seen in other Amerindian populations.
  • The research suggests that significant HLA genetic differences between Mexican and Guatemalan Mayas may support the idea that Maya languages influenced neighboring Amerindian groups.
  • The findings indicate potential evolutionary factors affecting HLA allele distribution, with HLA-G*01:05N being more prevalent in Middle Eastern populations,
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HLA-G immune modulatory genes and molecules are presently being studied by a widespread number of research groups. In the present study, we do not aim to be exhaustive since the number of manuscripts published every year is overwhelming. Instead, our aim is pointing out facts about HLA-G function, polymorphism and pathology that have been confirmed by several different researchers, together with exposing aspects that may have been overlooked or not sufficiently remarked in this productive field of study.

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Mexican Mixtec population from coastal Jamiltepec (Oaxaca) Amerindians was studied for its HLA profile. They show genetic characteristics close to Pacific Islanders and other Mexican Isthmus Amerindians (Mazatecans, Zapotecans and Mayas). Interestingly, this coastal Oaxaca Mixtec population is genetically closer to Mazatecans than to Oaxaca Mixtec from mountains according to HLA genes.

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Quechua Amerindians established Inca Empire and chose Cuzco as their capital. Their language is closely related to that of Aymara ethnic group and both of them were originated from Titikaka Lake Altiplano area. In the present study we have analyzed Bolivian Quechua HLA profile and found that it has common characters with other Andean and Pacific Amerindians (Uros, Aymaras, Lamas, Mapuches, Athabascan), and Pacific Islanders, including Easter Islanders: relatively high frequency of HLA-A*24 (:02), class II haplotypes DRB1*08:02-DQB1*04:02, and DRB1*04:03-DQB1* 03:02.

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Aymara people has been a relatively homogeneous group since Spanish Conquest by 1,532 CE, even if previously represented a group of various cultural defined populations who gave rise to them. They were and are established in Andean Altiplano around Titikaka Lake (Bolivia, Peru), Argentina and Chile neighborhood, speak Aymara language and have been maintained after Europeans arrival at a lower social status than Quechua (Inca) speaking people. However, both Aymara and Quechua populations acknowledge Titikaka Lake as center of their origins; both languages are also related.

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Huastecos or Teenek Amerindians are presently living at North East Mexico (San Luis Potosi State). They have probably one of the most ancient culture of Mexico and Central America together with Mayas and Olmec groups with which also show close relationships. Proximity to Atlantic Ocean/Mexican Gulf originated that Spaniards had very early contact with them at about 1519 CE or before.

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Article Synopsis
  • The Mexican Mayo Amerindians, located in southern Sonora and northern Sinaloa, may have ancestral ties to the First American Inhabitants from further north and participated in an HLA study to enhance understanding of their genetics and health profiles for future medical programs.
  • The study revealed specific HLA alleles, particularly HLA-B*48, that align with characteristics found in Pacific Amerindians and peoples from southern Asia, along with high frequencies of HLA-A*24 allele, seen in various indigenous groups from the Pacific region.
  • The findings suggest a potential direct genetic connection between Pacific Islanders/southern Asians and Amerindians, indicating that the settlement of the Americas occurred through multiple routes, including by sea, earlier
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