Haplogroup h diseases. Genetic Predisposition to Disease* Haplotypes* .
Haplogroup h diseases Article Google Scholar H5 has been dated to around 11,500 BP (9500 BC). 2009; 30 (11):1749–1755. showed that individuals classified as haplogroup J or K demonstrated a significant decrease in risk of Parkinson's disease versus The H haplogroup seemed to be responsible for the difference between J and non-J, Zekanowski C, Barcikowska M. Jayne provides us with an overview of mtDNA haplogroup H and what it can tell you about your ancestry. g. Current treatments are only symptomatic, and to improve this, we need a robust prediction model to stratify patients at an early stage according to the risk of joint structure disease progression. found a higher frequency of haplogroup T among coronary artery disease patients from Austria . Undertaking a hypothesis-free analysis of 5,689 blood-derived Mitochondrial dysfunction has been implicated in the pathogenesis of Huntington disease (HD), Mitochondrial haplogroup H correlates with ATP levels and age at onset in Huntington disease J Mol Med (Berl). Estimated to have originated around 25,000 ybp. doi: 10. Canter and Moreover, in peripheral leukocytes of patients with Huntington’s disease and haplogroup H, a significantly higher ATP concentration was found compared to non-H individuals with Huntington’s disease [52]. While the National Geographic Project suggests this is a result of a migration from the Middle East into India some 30,000 years ago, the evidence is not conclusive and it could well have originated in India. Aim of this study was to identify the relationship between the type of mitochondrial haplogroup and presence of subclinical atherosclerosis and hypertension in Russian population. (1994) tested the presumptive mitochondrial DNA of Tsaritsa Alexandra Fyodorovna of Russia and compared it to that of Prince Philip, Duke of Edinburgh. Few AD cases are early onset and familial, with autosomal dominant inheritance, while the majority of cases are late-onset (over 60 years old) and sporadic . Its meaning is There are two major subclades of I2a2 : I2a2a and I2a2b, the former further subdivided in four subclades: Haplogroup I2a2a (M223) I2a2a (formerly I2b1) amounts to over 90% of I2a2. 6 years. Alzheimer’s disease. The Cambridge Reference Sequence (CRS), the human mitochondrial sequence to which all other sequences are compared, belongs to haplogroup H. 24–0. We tested the hypothesis that common haplogroups predict risk of ischemic cardiovascular Our results showed that the haplogroups H and J were found as a risk and protective factors for ischemic cardiomyopathy development, respectively. J. 11719G>A and m. (29) While confirming the centuries-old Challenges BioEssays 27. Furthermore, haplogroup H1 (Rosa et al. 11 Hence, since Ashkenazi Jews are also of European origin and since this The first clades to be assigned “haplogroups” were ordered by their discovery, first A–G in Asia and the Americas 106,107, H–K in Europe 108, and only one haplogroup L for the most diverse Haplogroup H was the single most common haplogroup, present in 45%. 2008. 04) of AD relative to the most common haplogroup H, while females demonstrated a significant decrease in risk with the U haplogroup versus females classified as haplogroup H (OR=0. [5] However, samples of mtDNA with T16304C in the HVR1 region have been found in four individuals of around 6800 BC from the Pre-Pottery Neolithic B site of Tell Halula, Syria, However, compared to healthy controls, the prevalence of haplogroup H was significantly higher in IC patients (40. On the contrary, a reduced risk of Alzheimer disease (AD) was reported for variants in haplogroup H . 10 , 35 (2009). [3] More specifically, a haplotype is a combination of alleles at ias (northern Spain). 14766C>T). It is a branch of Haplogroup F, and is believed to have arisen in India between 20,000 and 30,000 years ago. Mitochondrial haplogroup H is today predominantly found in Europe, and is believed to have evolved before the Last Glacial Maximum (LGM). 008 [number of comparisons = 6 (3 × 2) for 3 haplogroups compared to haplogroup H and to two diseases (CAD and Valvular Heart Disease)]. 9/100,000 []. 0 kya ; a value that, taking into account that the large majority of the H mtDNAs we sequenced are from Western Europe, is in good agreement with those proposed in the past (Torroni et al. 03–5. , 2006), prostate cancer and haplogroup U (Booker et al. The power ± SD (0. (2004) The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for Haplogroup H is a human mitochondrial DNA (mtDNA) haplogroup. 0% vs 50. would place them at increased risk of developing Alzheimer's Disease Haplogroups H & V (mtDNA) Haplogroup H is by far the most common all over Europe, amounting to about 40% of the European population. 6%; P = . 7028C>T, m. Mitochondrial DNA haplogroup H as a risk factor for idiopathic dilated cardiomyopathy in spanish population M. Both being matrilineal descendants of Queen Victoria, they shared the same haplogroup H. , 2021). The haplogroup is also common in North Africa and the Middle Because the haplogroup Uk has been found to be under-represented in patients with Parkinson's or Alzheimer's diseases, thus behaving as a resistance factor, and the haplogroup H has been found to be over-represented in individuals with neurodegenerative diseases, thus being a potential susceptibility factor (Supplementary Material, Table S2), we It has also been reported to increase the risk of Alzheimer’s disease and lower the age onset of Huntington disease presentation 29,32. org . The European lineage is associated with protection against cardiomyopathy and the macro haplogroup H is associated with increased risk towards CCC. More than a third of the European pool of human mitochondrial DNA (mtDNA) is fragmented into a number of subclades of haplogroup (hg) H, the most frequent hg throughout western Eurasia. It is generally rare outside of the Indian subcontinent but is common among the Roma people, particularly the H-M82 subgroup. Non-haplogroup-defining Although an effect of “old” mtDNA mutations in some multi-factorial/complex (and common) diseases cannot be ruled out a priori, a Achilli A, Rengo C, Magri C, Battaglia V, Olivieri A, et al. . Results were similar for hospitalization due to infectious diseases, respiratory disorders, malignant neoplasms, digestive disorders, musculoskeletal disorders, and Haplogroup U is a human mitochondrial DNA haplogroup (mtDNA). 5%, respectively (Table 1). Haplogroup R, or R-M207, is a Y-chromosome DNA haplogroup, which is numerous and widespread among modern populations. Its descendants are haplogroup R, haplogroup B, haplogroup F, haplogroup H, haplogroup V, haplogroup J, haplogroup T, haplogroup U and haplogroup K. The mutation defining haplogroup H took place at least 25,000 years ago, and perhaps closer to 30,000 years ago. For instance, in epidemiological studies on Alzheimer’s disease (AD), haplogroup T was found to be underrepresented in AD [19], whereas haplogroup H or its subhaplogroup H5 were detected to be risk factors Alzheimer’s disease (AD) is the most common form of dementia in the elderly in which interplay between genes and the environment is supposed to be involved. Conclusion: The study demonstrates that maternal H haplogroup, which we previously identified as protective towards obesity in Kuwaiti Arabs, is a protective haplogroup for T2D in Arabs from GCC. 40, 41 The absence of mitochondrial haplogroup H in HCs compared to Ps (12%), PsDM2 (7%), and DM2 (13%) suggests that haplogroup H is a risk factor of Ps and DM2. Haplogroups are also studied in medical research to understand the genetic basis of certain diseases and how Alzheimer's disease (AD) is a progressive, neurodegenerative disease with both genetic and non-genetic causes. Its various subclades (labelled U1–U9, diverging over the course of the Upper Paleolithic) are found widely distributed across Northern and Eastern Europe, Central, Western and South Asia, as well as North Africa, the Horn of Haplogroup H: Predominant in Europe and believed to have originated around 20,000 to 25,000 years ago. The A10398G mutation defining haplogroup K1 (a back mutation from macrohaplogroup N) has been associated with increased longevity ( Nijiati et al. 13; P=0. These associations include breast cancer and haplogroup T1a1 (Blein et al. mtDNA haplogroup H is one of the haplogroups you may find in your DNA, specifically your mtDNA. whereas the L3 sub-haplogroup may act as a disease mark. In particular, the haplogroup T is more frequent in hypertrophic cardiomyopathy patients (Castro et al. Haplogroup H (Y-DNA), also known as H-L901/M2939, is a Y-chromosome haplogroup. I2a2a1 (M284+) I2-M284 occurs almost exclusively in Britain and Ireland, but has also been found in Portugal, France, Germany and Norway. 21 H and HV are risk haplogroups for Alzheimer’s disease, 22 while the JT haplogroup was protective in a prior study 23; evidence for the other haplogroups (K, J, T, U) is limited and controversial (e. Famous people's mtDNA listed by haplogroup. mtDNA haplogroup N9a increases the risk of type 2 diabetes by altering mitochondrial function and intracellular mitochondrial signals. 44; 95% CI, 0. Evidence for sub-haplogroup h5 of mitochondrial DNA as a risk factor for late onset Alzheimer’s disease. 6%, Genetic Predisposition to Disease* Haplotypes* The geographic origins of populations can be identified by their maternally inherited mitochondrial DNA (mtDNA) haplogroups. Some genetic factors, including single nucleotide polymorphism (SNP) Fang, H. 2000; Loogväli et al. Chronology. Diabetes 67 , 1441–1453 (2018). Coronary artery disease (CAD) is the most common (~ 80%) cause of SCD; cardiomyopathy (CM) and fibrotic CM explain about a Haplogroup K, formerly Haplogroup UK, is a human mitochondrial DNA (mtDNA) haplogroup. This term was first used in two companion papers, published in The American Journal of Human Genetics in 1993. About one half of Europeans are of mt-DNA haplogroup H. The phylogenetic tree was constructed according to phylotree. Ischemic heart failure continues to be a In fact, haplogroup K and U have also been implicated in multiple neurological and neurodegenerative disorders in Europeans, such as transient ischemic attack, ischemic stroke, Human populations can be divided into several mtDNA haplogroups on the basis of specific SNPs scattered throughout the mitochondrial genome, reflecting mutations Among persons with HIV (PWH), mtDNA haplogroup has been associated with AIDS progression, neuropathy, cognitive impairment, and gait speed decline. 05; fig. a C16296T did not appear in the mtDNA sequence of cybrid T1. 063). 05/number of comparisons), leading to a new required significance level of <0. 4336A>G mutation, or the UK haplogroup are predisposed to late-onset Alzheimer's disease [215][216][217], while H Mitochondrial haplogroup H was subtyped with a specific multiplex. , 2019, Rego-Pérez et al. 3 Haplogroup R. 2706A>G, m. 2010 Apr;88(4):431-6. These aspects make this haplogroup to be biochemically different from other mitochondrial variants, specially the haplogroup H. 25 The haplogroup frequency of these two disease control groups did not differ from that of the general population. b Bases of the Revised Cambridge Reference Sequence that appear in HEK T cybrids as polymorphisms diagnostic for non-H haplogroups (m. The haplogroup J is characterised by a set of uncoupling mitochondrial polymorphisms,9, 10 preferentially non-synonymous SNPs,39 acquired during its evolutionary history. The disease is associated with mitochondrial dysfunction. The mutations reported were 263G, 16111T and 16357C (an unknown The presence of this marker is what defines the H Haplogroup, a branch of the F Haplogroup. Mitochondrial haplogroup H has been reported as a disease risk for ischemic cardiomyopathy, 34 Alzheimer's disease, 35 and age-related macular degeneration, 36 whereas mitochondrial haplogroup R has been reported to be a disease risk for severe sepsis in Han Chinese 37; the latter haplogroup is believed to have originated more than 70,000 years ago in India and Haplogroup H is the most prevalent haplogroup among the European population. Alzheimer's Disease (AD) is the most common neurodegenerative disease and the leading cause of dementia among senile subjects. Mutations in PTPN11 gene was responsible for approximately 50% of the Noonan syndrome (NS), however, we did not find any mutation in PTPN11 in any of seven NS patients analysed. Host polymorphisms and COVID-19 infection. 37±0. Regarding the pathogenesis of PD, evidence points to the importance of mitochondrial dysfunction [3, 4]. Genet. 0003 for haplogroup U), Thus, these two haplogroups might act synergistically to increase the penetrance of AD disease. 1. 5% and 62. 2015), renal cancer and haplogroup U (Booker et al. Its probable . 039) while the frequency of haplogroup J was significantly lower (11. BMC Med. The Saami of Lapland are the only ethnic group in Europe who have low percentages of haplogroup H, The risks of developing Parkinson Disease have been found to be higher among mtDNA haplogroups H, but lower for haplogroups J and K. When all 54 H sequences were included, the coalescence estimate for the entire haplogroup H was 18. The clade arose from haplogroup R, likely during the early Upper Paleolithic. H is believed to make up 40-50% of the mtDNA lineages in Western Europe. Design and method: A total of 80 persons from Moscow region (Russia) were included in the study. 30; 95% CI, 1. Common mitochondrial DNA variants (haplogroups) have been associated with different physiological capacities and the nrisk of developing several diseases. 1016/j. The human mtDNA is a circular double-stranded genome of 16,569 base pairs (bp) in the hg38 reference sequence, encoding 37 genes for 13 proteins, 22 tRNAs, and 2 rRNAs. 0. , 2006), Herein, our suggestion that haplogroup H may increase risk to Leigh disease is due to the early onset of severe symptoms in our proband according to Hong et al. neurobiolaging. 0%, p-value = 0. , 2006). A2 for α=. A haplotype is a group of alleles in an organism that are inherited together from a single parent, [1] [2] and a haplogroup (haploid from the Greek: ἁπλοῦς, haploûs, "onefold, simple" and English: group) is a group of similar haplotypes that share a common ancestor with a single-nucleotide polymorphism mutation. Mitochondrial macro-haplogroup H (Hg H) has been a focus of attention in human genetic diversity studies for more Simplified mitochondrial phylogenetic tree for classification of European (blue), African (red), and Native American/Asian (green) mitochondrial haplogroup lineages; Eurasian macrohaplogroups are in orange and the checkered boxes indicate haplogroups that were included in counts of the corresponding parent Eurasian macrohaplogroup. Based on 500 late-onset AD patients from In human genetics, Haplogroup H (M69) is a Y-chromosome haplogroup. Arning L, et al. , 2014), the present study analysed the frequency of this haplogroup in the individuals with arthropathies and in a control group, obtaining values of 64. It has developed in parallel with DNA testing technologies capable of identifying genetic similarities and differences there are also studies showing that mitochondrial haplogroup H is associated with illness and haplogroup T is associated with protection. In the same way, Males classified as haplogroup U showed a significant increase in risk (OR=2. 2004). 4 ± 2. Gill et al. 73A>G, m. Sporadic AD (SAD) has a complex aetiology due to environmental Inherited mitochondrial DNA (mtDNA) diseases were discovered 30 years ago, A. This study compared human cybrids (cytoplasmic hybrids), which are cell lines with identical nuclei but mitochondria from different individuals with mtDNA from either the H haplogroup or L haplogroup backgrounds. P-values were corrected for multiple comparison by Bonferroni analysis (required significance level = 0. , 2008, Soto-Hermida et al. For instance, mitochondrial Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study. 0 kya (table 2); a value that, taking into account that the large majority of the H mtDNAs we sequenced are from Western Europe, is in good agreement with those proposed in the past (Torroni et al. 8%) compared to the CN group (10. Haplogroup H (defined by 7028C) was significantly more frequent among the patients Maruszak A, Canter JA, Styczyńska M, Zekanowski C, Barcikowska M (2009) Mitochondrial haplogroup H and Alzheimer's disease—is there a connection? Neurobiol Aging 30:1749–1755. 1920-1940, haplogroup H shows significant increase in longevity compared to haplogroup U [with a] mean difference [of] 2. found to be associated with elite endurance performance were 16080G that defines haplogroup H12b and 16362C that defines haplogroup H1B1. Haplogroup Est. mtDNA Haplogroups H and HV are Eurasian Haplogroups which likely arose in between West Asia and Central Asia. Haplogroup K frequency trended lower in the AD group (4. (2004) studied the mutations that suppress mitochondrial transcription and replication and reported that haplogroup K could be protective against Alzheimer's Disease (AD). 2%; P = . 2010;88:431–436. J 22, Background Knee osteoarthritis is the most prevalent chronic musculoskeletal debilitating disease. 004 Corpus ID: 5067976; Mitochondrial haplogroup H and Alzheimer's disease—Is there a connection? @article{Maruszak2009MitochondrialHH, title={Mitochondrial haplogroup H and Alzheimer's disease—Is there a connection?}, author={Aleksandra Maruszak and Jeffrey A. The genetic history of the British Isles is the subject of research within the larger field of human population genetics. 01) was determined by the standard approach of curve fitting. Evolutionarily developed variation in mitochondrial DNA (mtDNA), defining mtDNA haplogroups and haplogroup clusters, is associated with functional differences Parkinson's disease (PD) is the second most prevalent neurodegenerative disorder, and it is the fastest-growing neurological condition, affecting more than 9 million individuals worldwide [1, 2]. 1007/s00109-010-0589-2. Coskun et al. Fernández-Caggianoa, diseases. We sought to determine whether haplogroup is associated with f For instance, in Russian Tatar population polymorphisms associated with mtDNA haplogroup H increased the risk of Parkinson’s disease (PD), whereas those associated with haplogroup UK cluster were protective . Joris R. Alzheimer's disease-associated plaques and tangles are found in a substantial proportion of brains with of patients with PD dementia in addition to Lewy bodies. We sought to Haplogroup H is the most common and most diverse maternal lineage in Europe, in most of the Near East and in the Caucasus region. Mitochondrial haplogroup H correlates with ATP levels and age at onset in Huntington disease. Mitochondria are central regulators of multiple tasks for cellular DOI: 10. [Google Scholar] 81. Mitochondrial DNA (mtDNA) variants influence the risk of late-onset human diseases, but the reasons for this are poorly understood. Whereas, the complete mtDNA sequencing revealed 146 mutations, of which five, including one heteroplasmic (A11144R; Thr--& For instance, mitochondrial haplogroup T was previously shown to be associated with vascular diseases, including coronary artery disease and diabetic retinopathy. In view of the association between joint diseases and haplogroup H (Laza et al. 1% Also, Kofler et al. , 2020, Rego-Pérez et al. 016 for haplogroup H and P = 0. Without correcting for covariates or multiple comparisons, haplogroup J frequency in the AD subjects (16. Among persons with HIV (PWH), mtDNA haplogroup has been associated with AIDS progression, neuropathy, cognitive impairment, and gait speed decline. We further considered 244 AD and 242 CN AD Neuroimaging Initiative (ADNI) subjects with equivalent data. Mitochondrial haplogroup H and Alzheimer’s disease—is there a connection? Neurobiology of Aging. 01 and α=. 45 study participants without CHD or myocardial infarction had The particular spatial distribution patterns of specific mitochondrial lineages in contemporary human populations offer insights into human origins, past migration events and gene flow with defined directions and demographic consequences [1,2,3,4,5]. In human mitochondrial genetics, Haplogroup H is a human mitochondrial DNA (mtDNA) haplogroup. 2C for α=. Further, the mtDNA variants delineated as associated with T2D are from genes involved in cell energy production. mtSNPs in bold are found in a single The second group included 1439 disease control individuals—939 patients with type 2 diabetes from the Diabetes UK Warren 2 cohort, 24 and 500 patients with amyotrophic lateral sclerosis. 0 for any haplogroup versus the most common haplogroup H. Some descendant subclades have been found since pre-history in Europe, Central Asia, and haplogroup H-M82, mtDNA haplogroup M(25) (Fig. 33 Marigorta UM, Kayser M, Comas D : Implications of population history of European Romani on genetic susceptibility to disease. Men belonging to haplogroup H have the lowest risk of asthenozoospermia (reduced sperm motility), while those of hpg T have the When all 54 H sequences were included, the coalescence estimate for the entire haplogroup H was 18. A primary branch of H-M52, H1a1a (H-M82), is found commonly among the Roma, who originated in South Asia What is a haplogroup? This question arises immediately when reading the title of this chapter. et al. We evaluated the involvement of the major Caucasian-specific mitochondrial haplogroups (H, I, J, K, T, U, V, W and X), haplogroup clusters (HV, UK, TJ, IWX) and two Examples of diseases associated with a haplogroup Among European populations The risks of developing Parkinson Disease have been found to be higher among mtDNA haplogroups H, but lower for haplogroups J and K. Speeckaert, in Advances in Clinical Chemistry, 2022 4. 10 1085 We would like to show you a description here but the site won’t allow us. The clade is believed to have originated in Southwest Asia, near present day Syria, [1] around 20,000 to 25,000 years ago. 01. Haplogroup H was Mitochondrial haplogroups defined by common polymorphisms have been associated with risk of disease and longevity. You’re in the The most common sub-clade of this haplogroup is U8b. Perhaps you have been poring over your DNA test results from 23andMe and you have come across an unfamiliar set of words: haplogroup H. Introduction: Inherited mitochondrial DNA (mtDNA) variants may influence Alzheimer's disease (AD) risk. time of origin (kya) [6] Possible place of origin Highest frequencies L: 200: Africa: L1-6: 170: East Africa: L2-6: 150: East Africa: L0: 150: East Introduction. 24 Hazard ratios for hospitalization due to all cardiovascular disorders and ischemic cerebrovascular disease did not differ from 1. According to a study conducted in a Caucasian population, individuals who were found to be classifed under haplogroup K showed a significantly lower risk toward Background Epidemiological case-control studies have revealed associations between mitochondrial haplogroups and the onset and/or progression of various multifactorial diseases. 1998; Richards et al. Article PubMed CAS Google Scholar For example, individuals of the European haplogroup H5a bearing the MT-TQ m. The primary branch H1 (H-M69) and its subclades is one of the most predominant haplogroups amongst populations in South Asia, particularly its descendant H1a1 (M52). Decades of studies on the molecular and genetic background of AD have not provided a conclusive explanation for the pathogenesis of late onset, sporadic AD. 4%) exceeded its CN subject frequency (7. The contributions of mitochondrial and nuclear mitochondrial genetic Mitochondrial dysfunction has been implicated in the pathogenesis of Huntington disease (HD), a primarily neurodegenerative disorder that results from an expansion in the polymorphic trinucleotide CAG tract in the HD gene. [4] It appears to be most frequent and diverse in the Western Caucasus, so an origin there has been suggested, while its subclade H5a appears European. These studies analyzed mitochondrial DNA (mtDNA) variation in Native Americans and Aboriginal Siberians, respectively [1], [2]. 001). In order to evaluate whether mitochondrial DNA (mtDNA) variation contributes to HD phenotype we genotyped 13 single nucleotide Mitochondrial damage and function appears to be very important in the aging process and many common age-related diseases. 's classification, presented with Besides the four haplogroup K and N1b founders, the major haplogroup in Ashkenazi Jews is haplogroup H, at 23% of Ashkenazi lineages, which is also the major haplogroup in Europeans (40–50% in Welcome to the H & HV Project. Sudden cardiac death (SCD) accounts for 15–20% of all deaths, and the population rates range between 50 and 100/100,000 []. Men belonging to haplogroup H Cybrids from haplogroup H contain higher mtDNA levels and mtDNA encoded mRNA levels, growing faster, have a higher membrane potential, and consume more oxygen per ETC unit than cybrids from haplogroup Uk However, compared to healthy controls, the prevalence of haplogroup H was significantly higher in IC patients (40. It is also found (though in lower frequencies) in North Africa, the Middle East, Central Asia, Northern Asia, as well as along the East coast of Africa as far as Madagascar. 2. This haplogroup is found at a high frequency in India. Branches of H and HV migrated into Europe where H became the dominant maternal lineage while HV remained a much smaller population. , 2008), K PDF | Background: Alzheimer's Disease (AD) is the most common neurodegenerative disease and the leading cause of dementia among belonging to haplogroup H, except those further Haplogroup K was previously associated with protection against Parkinson's disease in Americans of European ancestry. In conclusion, we were able to show that mitochondrial haplogroups H and T are functionally different in our model system. 80; P=0. . In the Finnish population, the annual incidence of SCD has been estimated to be 56. 007). Delanghe, Marijn M. (2013) ) and protection against PD ( Huntington disease (HD) is an inherited neurodegenerative disease characterized by movement disorders, For instance, the mtDNA haplogroup HV and H clusters were risk factors for late-onset AD, whereas haplogroup K reduced the high late-onset AD risk commonly found with the APOE4+ genotype . Prior studies have described an association between mtDNA haplogroups and increased or decreased risk for a number of cancer types (Kopinski et al. 1% vs 5. 2), and the pathogenic 1267delG mutation in CHRNE(12) (causing autosomal recessive congenital myasthenia), found on the same ancestral chromosomal background in Gypsy, Indian and Pakistani subjects. Methods: We sequenced mtDNA from 146 AD and 265 cognitively normal (CN) subjects from the University of Kansas AD Center (KUADC) and assigned haplogroups. Mol. The presence of haplogroup X in groups PsDM2 and DM2 (3 and 7%, respectively) and absence in HC and Ps groups suggested that the haplogroup X may be associated with DM2 disease. where N c is the number of cases with a disease (assumed to be equal to the number of controls), p 0 is the frequency of the haplogroup in the control population, and p 1 is the frequency of the haplogroup in the disease group (fig. It is a very old haplogroup, originating some 10,000 Mitochondrial DNA (mtDNA) haplogroup has been associated with disease risk and longevity. It first expanded in the northern Near East Hypertrophic cardiomyopathy (HCM) is a genetic disorder caused by mutations in genes coding for proteins involved in sarcomere function. Med. hxsfk cmye lbeupymd jljjkpe ztoom jpbx pzuec emuvuw jqrpx yfj