2 ответов в этой теме

[eugene-march]

В данной теме обобщены публикации, посвященные заболеваниям, ассоциированных с гаплогруппами мтДНК.


mtDNA haplogroup T and coronary artery disease/diabetic retinopathy:
Haplogroup T was significantly more prevalent among patients with CAD than among control subjects (14.8% vs 8.3%; p=0.002). In patients with type 2 diabetes, the presence of diabetic retinopathy was also significantly associated with a higher prevalence of haplogroup T (12.1% vs 5.1%; p=0.046).
http://dienekes.blog...ary-artery.html


Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication:
Coskun et al. says that haplogroups J and UK are protective against Alzheimer's disease (AD), whereas haplogroup H is thought to increase the penetrance of AD. One of the mutations found in AD patient but not in controls was T414G.
http://www.pnas.org/...71-4de1dbf14937


mtDNA haplogroups and AIDS progression :
Mitochondrial DNA haplogroups J and U5a were elevated among HIV-1 infected people who display accelerated progression to AIDS and death. Haplogroups Uk, H3, and IWX appeared to be highly protective against AIDS progression.
http://www.ncbi.nlm....66/?tool=pubmed


Founder mutations among the Dutch:
Mitochondrial DNA is a cause of acute intermittent porphyria. The disease has been linked with mtDNA 14484 mutation found in Dutch members of haplogroups J and K.
http://www.nature.co...l/5201151a.html


Mitochondrial DNA Haplogroups and Lipoatrophy After Antiretroviral Therapy:
Haplogroup H is strongly associated with increased lipoatrophy following a antiretroviral therapy, while haplogroup T is somewhat protective.
http://dienekes.blog...groups-and.html


mtDNA mutations increase tumorigenicity in prostate cancer:
According to Petros et al. mtdna mutation T8993T is associated with a 7-fold increased risk for prostate cancer. This mutation does not define any haplogroup or common subclade.
http://www.pnas.org/.../3/719.abstract


Control region mtDNA variants: Longevity, climatic adaptation, and a forensic conundrum:
Coskun et al. found the C150T mutation to be associated with centenarians and resistance to stress. C150T is found in various haplogroups. The study found cases in the European haplogroups N1b, HV, H, J, T and U.
http://www.pnas.org/...pe2=tf_ipsecsha


mtDNA haplogroup H and maximal oxygen uptake:
A Spanish study found that haplogroup H was associated with a higher oxygen uptake compared to average. Haplogroup J, on the other hand, had the opposite association.
http://dienekes.blog...mal-oxygen.html


European mitochondrial DNA haplogroups and liver fibrosis in HIV and hepatitis C virus coinfected patients:
The mtDNA haplogroups HV and H were associated with slower fibrosis progression, and the haplogroup U was associated with faster fibrosis progression in HIV/HCV coinfected patients. These data suggest that mtDNA haplogroup may play a significant role in liver fibrogenesis during HCV infection.
http://www.google.ru...w...DHg&cad=rjt

[eugene-march]

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.

Men belonging to haplogroup H have the lowest risk of asthenozoospermia (reduced sperm motility), while those of hpg T have the highest.

There is a correlation between haplogroup H and protection from sepsis.

Haplogroups I, J1c, J2, K1a, U4, U5a1 and T have lower incidences of Parkison's Disease. I, J and T also have increased longevity. However, haplogroups J and T have been associated with increased risk for expression of a maternally inherited blindness disorder (Leber hereditary optic neuropathy). This is especially true for the J2 subclade.

Haplogroup T is associated with coronary heart disease, but also a decreased risk of diabetes.

Haplogroup N is considered a risk factor for breast cancer. This also applies to all its sub-haplogroups (H, T, U, V, W, X) except for hpg K.

Mitochondrial haplogroup U is associated with an approximately 2-fold increased risk of prostate cancer and renal cancer.

Coskun et al. says that haplogroups J and UK are protective against Alzheimer's disease (AD), whereas haplogroup H is thought to increase the penetrance of AD. One of the mutations found in AD patient but not in controls was T414G.

Haplogroup U and its subclade K are associated with higher risks of strokes and Chronic Progressive External Ophthalmoplegia.

Haplogroup X has a defining mutation related to type-2 diabetes, cardiomyopathy and endometrial cancer risk.

Studies have suggested haplogroup IWX to be highly protective against AIDS progression.



Among East Asian populations.

Longevity is associated with haplogroup D4a.

Haplogroups D4a and D5a are associated with higher risk of esophageal cancer.

Haplogroups F and A are genetic risk factors for diabetes, whereas haplogroup N9a was found to be a protective factor against Metabolic syndrome (cause of cardiovascular disease and diabetes), especially for women.

Haplogroup M7b2 was found to be a genetic risk factor for leukemia.

People belonging to haplogroups B4c, G1 and H4 are more predisposed to obesity.

Members of haplogroup G (found in North-East Siberia) have increased risks of Non-Insulin Dependent Diabetes Mellitus.

Such studies are still in their infancy. The years, and indeed decades to come will shed more light on the relation between diseases and genes. What is more, the results of these studies are not easily accessible to the general public, or are often too technical to be easily understood for lay people. But if you find some interesting data, feel free to post it here as a summary of the information jungle in which we live.

http://www.google.ru...w...28Q&cad=rjt

[eugene-march]

Investigating the Role of Mitochondrial Haplogroups in Genetic Predisposition to Meningococcal Disease:
http://www.google.ru...w...aHA&cad=rjt


Comprehensive analysis of common mitochondrial DNA variants and colorectal cancer risk, E. Webb, P. Broderick, I. Chandler, S. Lubbe:
All nine common European haplogroups (H, I, J, K, T, U, V, W and X) were observed in both cases and controls. Haplogroup J was slightly over-represented in cases, whereas haplogroup K was slightly under-represented, although these observations were statistically non-significant (Table 3)

https://www.balto-sl...?showtopic=4740